Adgrv1 adhesion G protein-coupled receptor V1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Adgrv1provided by MGI
Official Full Name: adhesion G protein-coupled receptor V1provided by MGI
Primary source: MGI:MGI:1274784
See related: Ensembl:ENSMUSG00000069170 AllianceGenome:MGI:1274784
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mgr1; Gpr98; Mass1; VLGR1; Frings
Summary: Enables several functions, including G-protein alpha-subunit binding activity; adenylate cyclase inhibitor activity; and myosin binding activity. Involved in several processes, including negative regulation of adenylate cyclase activity; positive regulation of bone mineralization; and self proteolysis. Acts upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of sound; inner ear receptor cell stereocilium organization; and positive regulation of cAMP/PKA signal transduction. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilia ankle link. Part of USH2 complex and stereocilia ankle link complex. Is active in stereocilium. Is expressed in several structures, including brain; eye; neural ectoderm; reproductive system; and spinal cord. Used to study Usher syndrome type 2C. Human ortholog(s) of this gene implicated in Usher syndrome type 2C and familial febrile seizures 4. Orthologous to human ADGRV1 (adhesion G protein-coupled receptor V1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E11.5 (RPKM 2.4), whole brain E14.5 (RPKM 1.5) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C2- C3; 13 42.18 cM

Exon count:: 95

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (81243187..81781504, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (81095068..81633391, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy.
Title: The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy.
Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.
Title: Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.
The retinal degeneration was cause by a mutation in Pde6b, while the hearing loss was caused by a mutation in Adgrv1.
Title: A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains.
MASS1 regulates MAG in response to calcium in myelinated regions of critical sites for the initiation and propagation of audiogenic epilepsy.
Title: Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Gαs/Gαq-mediated protein kinases A/C.
Coimmunoprecipitation experiments between SNAP25 & VLGR1 traffoc basally to the developing hair cell synapse. These 2 proteins physically interact in organ of Corti and brain.
Title: Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells.
A novel synaptic Usher complex comprised of clarin-1 and specific isoforms of CDH23, PCDH15 and VLGR1, was identified.
Title: Role for a novel Usher protein complex in hair cell synaptic maturation.
Data suggest that Gpr98 signaling pathway is critical in regulation of bone mineral density (BMD) and mechanical fragility of bone; femoral BMD is significantly lower in Gpr98-knockout mice than in wild-type mice.
Title: GPR98/Gpr98 gene is involved in the regulation of human and mouse bone mineral density.
Vlgr1 knockout mice showed hearing loss and high susceptibility to audiogenic seizures regardless of their genetic backgrounds.
Title: Deficiency of Vlgr1 resulted in deafness and susceptibility to audiogenic seizures while the degree of hearing impairment was not correlated with seizure severity in C57BL/6- and 129-backcrossed lines of Vlgr1 knockout mice.
Whrn connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
Title: The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.
Vlgr1d and Vlgr1e, novel alternatively-spliced variants of Vlgr1b/MGR1 expressed predominantly in the neuroepithelium, upon sequence analysis are identified in transcripts from a locus previously characterized as mass1.
Title: Vlgr1 knockout mice show audiogenic seizure susceptibility.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (3)
Spontaneous (2) 1 citation
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237061

AU017896 (e-PCR)
- UniSTS:208960

px-38e3 (e-PCR)
- UniSTS:257695

D13Mit9 (e-PCR), detects polymorphism
- UniSTS:127188

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables G protein-coupled receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables G-protein alpha-subunit binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein alpha-subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables adenylate cyclase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenylate cyclase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	NAS Non-traceable Author Statement more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables myosin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to calcium ion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear receptor cell differentiation	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in maintenance of animal organ identity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of adenylate cyclase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system process	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of cAMP/PKA signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in self proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in sensory perception of light stimulus	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of USH2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of USH2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in periciliary membrane compartment	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of receptor complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in stereocilia ankle link	IDA Inferred from Direct Assay more info	PubMed
part_of stereocilia ankle link complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium	EXP Inferred from Experiment more info	PubMed
is_active_in stereocilium	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium	ISO Inferred from Sequence Orthology more info
located_in stereocilium membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: adhesion G-protein coupled receptor V1

Names: G-protein coupled receptor 98; monogenic audiogenic seizure susceptibility protein 1; monogenic, audiogenic seizure susceptibility 1; neurepin; protein rueda; very large G protein-coupled receptor 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_054053.4 → NP_473394.3 adhesion G-protein coupled receptor V1 precursor

Status: VALIDATED

Source sequence(s)

AC154583, AC154771, AC154824, CT010447

Consensus CDS

CCDS36737.1

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

UniProtKB/TrEMBL

B8JJE0

Related

ENSMUSP00000093245.5, ENSMUST00000095585.11

Conserved Domains (6) summary

smart00237
Location:4263 → 4351

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

pfam03736
Location:3392 → 3434

EPTP; EPTP domain

pfam13385
Location:1342 → 1491

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:1724 → 1804

Calx-beta; Calx-beta domain

cl02559
Location:5845 → 5891

GPS; GPCR proteolysis site, GPS, motif

cl21561
Location:5908 → 6141

7tm_4; Olfactory receptor

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

81243187..81781504 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315363.1 → XP_017170852.1 adhesion G-protein coupled receptor V1 isoform X1

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

Conserved Domains (8) summary

smart00237
Location:4291 → 4379

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:4275 → 4511

caca; sodium/calcium exchanger 1

cd14964
Location:5959 → 5983

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3419 → 3460

EPTP; EPTP domain

pfam13385
Location:1369 → 1518

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:5025 → 5117

Calx-beta; Calx-beta domain

cl02559
Location:5873 → 5919

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5940 → 6180

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017315364.2 → XP_017170853.1 adhesion G-protein coupled receptor V1 isoform X2

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

Conserved Domains (8) summary

smart00237
Location:4290 → 4378

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:4274 → 4510

caca; sodium/calcium exchanger 1

cd14964
Location:5958 → 5982

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3419 → 3460

EPTP; EPTP domain

pfam13385
Location:1369 → 1518

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:5024 → 5116

Calx-beta; Calx-beta domain

cl02559
Location:5872 → 5918

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5939 → 6179

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017315365.2 → XP_017170854.1 adhesion G-protein coupled receptor V1 isoform X3

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

Conserved Domains (8) summary

smart00237
Location:4264 → 4352

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:4248 → 4484

caca; sodium/calcium exchanger 1

cd14964
Location:5932 → 5956

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:3392 → 3433

EPTP; EPTP domain

pfam13385
Location:1342 → 1491

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4998 → 5090

Calx-beta; Calx-beta domain

cl02559
Location:5846 → 5892

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5913 → 6153

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017315367.3 → XP_017170856.1 adhesion G-protein coupled receptor V1 isoform X5

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

Conserved Domains (8) summary

smart00237
Location:3544 → 3632

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:3528 → 3764

caca; sodium/calcium exchanger 1

cd14964
Location:5212 → 5236

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:2672 → 2713

EPTP; EPTP domain

pfam13385
Location:622 → 771

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4278 → 4370

Calx-beta; Calx-beta domain

cl02559
Location:5126 → 5172

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:5193 → 5433

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017315368.2 → XP_017170857.1 adhesion G-protein coupled receptor V1 isoform X6

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

Conserved Domains (8) summary

smart00237
Location:3270 → 3358

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:3254 → 3490

caca; sodium/calcium exchanger 1

cd14964
Location:4938 → 4962

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:2398 → 2439

EPTP; EPTP domain

pfam13385
Location:348 → 497

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:4004 → 4096

Calx-beta; Calx-beta domain

cl02559
Location:4852 → 4898

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:4919 → 5159

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017315372.2 → XP_017170861.1 adhesion G-protein coupled receptor V1 isoform X9

Conserved Domains (7) summary

smart00237
Location:1974 → 2062

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:1958 → 2189

caca; sodium/calcium exchanger 1

cd14964
Location:3642 → 3666

7tm_GPCRs; TM helix 2 [structural motif]

pfam03736
Location:1102 → 1143

EPTP; EPTP domain

cl02522
Location:2708 → 2800

Calx-beta; Calx-beta domain

cl02559
Location:3556 → 3602

GPS; GPCR proteolysis site, GPS, motif

cl28897
Location:3623 → 3863

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
XM_017315366.3 → XP_017170855.1 adhesion G-protein coupled receptor V1 isoform X4

UniProtKB/Swiss-Prot

Q6ZQ69, Q810D2, Q810D3, Q8VHN7, Q91ZS0, Q91ZS1

Conserved Domains (5) summary

smart00237
Location:4291 → 4379

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:4275 → 4511

caca; sodium/calcium exchanger 1

pfam03736
Location:3419 → 3460

EPTP; EPTP domain

pfam13385
Location:1369 → 1518

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:5025 → 5117

Calx-beta; Calx-beta domain
XM_017315370.3 → XP_017170859.1 adhesion G-protein coupled receptor V1 isoform X7

Conserved Domains (5) summary

smart00237
Location:4291 → 4379

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:4275 → 4506

caca; sodium/calcium exchanger 1

pfam03736
Location:3419 → 3460

EPTP; EPTP domain

pfam13385
Location:1369 → 1518

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:1596 → 1688

Calx-beta; Calx-beta domain
XM_017315371.3 → XP_017170860.1 adhesion G-protein coupled receptor V1 isoform X8

Conserved Domains (5) summary

smart00237
Location:4291 → 4379

Calx_beta; Domains in Na-Ca exchangers and integrin-beta4

TIGR00845
Location:4275 → 4511

caca; sodium/calcium exchanger 1

pfam03736
Location:3419 → 3460

EPTP; EPTP domain

pfam13385
Location:1369 → 1518

Laminin_G_3; Concanavalin A-like lectin/glucanases superfamily

cl02522
Location:1596 → 1688

Calx-beta; Calx-beta domain