|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 #||R3877 (G1)|
|Chromosomal Location||67695326-67703333 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 67699976 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 129 (I129F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021290 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000021290]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: I129F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I129F
|Meta Mutation Damage Score||0.32|
|Coding Region Coverage||
|Validation Efficiency||100% (49/49)|
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'- ATGTCATGAGGCTTAGCTCC -3'
(R):5'- AGAGCATGTTCCCCAGTTCTG -3'
(F):5'- AGGCTTAGCTCCCTGTAAGAATG -3'
(R):5'- CCTTCTGGGGTCTCTAGGAAATAGC -3'