|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 #||R5352 (G1)|
|Chromosomal Location||81095068-81633154 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 81494657 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 3218 (Y3218C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093245 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095585]|
|Predicted Effect||probably damaging
AA Change: Y3218C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y3218C
|Meta Mutation Damage Score||0.3439|
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
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'- GAGCTGAGTTCCAAGTCTAGTGC -3'
(R):5'- ACTAGAGTCTAGTCTTCCACTGC -3'
(F):5'- GAGTTCCAAGTCTAGTGCATGAATG -3'
(R):5'- GTCTTCCACTGCATAAAATTTGTGGG -3'