ADGRV1

adhesion G protein-coupled receptor V1

Ensembl:
ENSG00000164199
UniProt:
Q8WXG9
OMIM:
602851
Synonyms:
DKFZP761P0710, FEB4, GPR98, KIAA0686, MASS1

Cilia effects upon perturbation of ADGRV1

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
decreased prepulse inhibition, abnormal startle reflex, hyperactivity, decreased startle reflex
Mouse ciliopathy phenotype:
abnormal testis morphology, abnormal auditory brainstem response, small testis, short tibia

Ciliopathy associations

  • Usher Syndrome

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

GPR98. USH2C (OMIM :602851). Mutation causes Usher syndrome type IIC.

Model organism evidence

Mus musculus (1 reference)

We describe the structure of these links and review evidence showing CDH23 and PCDH15 are components of the tip, kinocilial, and transient-lateral links, that stereocilin (STRC) and protein tyrosine phosphatase (PTPRQ) are associated with top and shaft connectors, respectively, and that USH2A an

PMIDs: 30617060