|Institutional Source||Beutler Lab|
|Gene Name||methionine sulfoxide reductase A|
|Synonyms||2310045J23Rik, MSR-A, 6530413P12Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.134)|
|Stock #||R6119 (G1)|
|Chromosomal Location||64122625-64455903 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 64440734 bp|
|Amino Acid Change||Arginine to Cysteine at position 38 (R38C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065754 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000067927]|
|Predicted Effect||probably damaging
AA Change: R38C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R38C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0364|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for disruptions in this allele display an increased sensitivity to oxidative stress, reductions in related enzyme levels, and reduced life spans. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Msra||
(F):5'- AAGTCTTTCAGAGCGAGACTC -3'
(R):5'- TTTGTCCCTCAGAGACAGCC -3'
(F):5'- AGGAGACTGCCCAGCTGAG -3'
(R):5'- TCAGAGACAGCCAGGCCTG -3'