|Institutional Source||Beutler Lab|
|Gene Name||adhesion G protein-coupled receptor V1|
|Synonyms||Mass1, Mgr1, VLGR1, Gpr98|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5510 (G1)|
|Chromosomal Location||81095068-81633154 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 81445244 bp|
|Amino Acid Change||Aspartic acid to Valine at position 4208 (D4208V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093245 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095585]|
|Predicted Effect||probably damaging
AA Change: D4208V
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: D4208V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.2138|
|Coding Region Coverage||
|Validation Efficiency||99% (91/92)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous and a targeted mutation exhibit high sensitivity to audiogenic seizures. Targeted mutant mice lack the ankle links that connect growing stereocilia in the developing cochlear hair cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adgrv1||
(F):5'- TTTTGTCCTATCCATAGAAACAGCC -3'
(R):5'- GATGGGTAAGGCTATTTAAAGTCG -3'
(F):5'- GCCATAGATACTGTAAACTCCCTC -3'
(R):5'- AATAAGTGAAAATTGGCTTAAAGGC -3'