|Institutional Source||Beutler Lab|
|Synonyms||S-modulin, cancer associated retinopathy protein, guanylate cyclase activator|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4214 (G1)|
|Chromosomal Location||67695326-67703333 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 67695688 bp|
|Amino Acid Change||Histidine to Leucine at position 91 (H91L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021290 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000021290]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: H91L
PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: H91L
|Meta Mutation Damage Score||0.6151|
|Coding Region Coverage||
|Validation Efficiency||98% (64/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit faster flash response recovery in dark-adapted rods, decreased sensitivity of rods to steps of light and altered kinetics of sodium/calcium-potassium exchange in rods. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rcvrn||
(F):5'- TGGTACCAGTCCTTCCTGAAG -3'
(R):5'- AGATGACACTCTAGGGAGGTGC -3'
(F):5'- AAGTTTTTCCCGGACTCC -3'
(R):5'- ACTCCACTGGGCTACAAGG -3'