Incidental Mutation 'IGL02500:Msra'
ID 296023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Msra
Ensembl Gene ENSMUSG00000054733
Gene Name methionine sulfoxide reductase A
Synonyms 2310045J23Rik, 6530413P12Rik, MSR-A
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02500
Quality Score
Status
Chromosome 14
Chromosomal Location 64360074-64693352 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 64522637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067927] [ENSMUST00000210363] [ENSMUST00000210428]
AlphaFold Q9D6Y7
Predicted Effect probably benign
Transcript: ENSMUST00000067927
SMART Domains Protein: ENSMUSP00000065754
Gene: ENSMUSG00000054733

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:PMSR 65 219 2.4e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209392
Predicted Effect probably benign
Transcript: ENSMUST00000210363
Predicted Effect probably benign
Transcript: ENSMUST00000210428
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,856,338 (GRCm39) I409N possibly damaging Het
Aoc3 T A 11: 101,228,215 (GRCm39) L674* probably null Het
Arhgef10 G A 8: 15,011,238 (GRCm39) E265K probably damaging Het
Ccn1 T C 3: 145,354,455 (GRCm39) K152R probably damaging Het
Cd53 A G 3: 106,676,142 (GRCm39) I75T probably damaging Het
Col26a1 A T 5: 136,783,193 (GRCm39) L235* probably null Het
Crem G T 18: 3,273,477 (GRCm39) Q60K probably damaging Het
Cyp2j8 T C 4: 96,358,887 (GRCm39) D344G probably damaging Het
Dchs1 T C 7: 105,405,013 (GRCm39) T2510A probably benign Het
Dnajc4 T C 19: 6,965,456 (GRCm39) Q215R possibly damaging Het
Espl1 A G 15: 102,224,235 (GRCm39) H1262R probably benign Het
Exoc2 G T 13: 31,095,179 (GRCm39) T239K probably damaging Het
Fzd6 A T 15: 38,894,781 (GRCm39) S316C probably damaging Het
Htra1 A G 7: 130,586,704 (GRCm39) K429R probably benign Het
Il1rapl2 C T X: 137,747,252 (GRCm39) T647I possibly damaging Het
Kcnn3 T A 3: 89,568,419 (GRCm39) probably benign Het
Kiz G A 2: 146,705,733 (GRCm39) V98I probably benign Het
Klk1b24 A T 7: 43,837,748 (GRCm39) probably benign Het
Lrrc30 T A 17: 67,938,857 (GRCm39) N241I probably damaging Het
Map2k4 A G 11: 65,587,136 (GRCm39) V288A probably damaging Het
Mefv T C 16: 3,531,441 (GRCm39) H459R probably damaging Het
Mettl21a G T 1: 64,647,213 (GRCm39) Q115K probably benign Het
Myh8 G A 11: 67,196,536 (GRCm39) R1752H probably benign Het
Nrp1 T C 8: 129,152,280 (GRCm39) F163S possibly damaging Het
Ntng1 T A 3: 110,042,646 (GRCm39) Y60F probably damaging Het
Pax6 G T 2: 105,523,115 (GRCm39) R317L probably benign Het
Pcdh17 A G 14: 84,770,909 (GRCm39) E1129G probably benign Het
Phlpp2 C T 8: 110,640,250 (GRCm39) H472Y probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Prkce A G 17: 86,476,342 (GRCm39) N108D probably benign Het
Prkdc T G 16: 15,532,146 (GRCm39) probably null Het
Ptprm T C 17: 67,227,043 (GRCm39) Y702C probably damaging Het
Rbbp8nl T C 2: 179,921,122 (GRCm39) T421A possibly damaging Het
Retnlg A T 16: 48,693,323 (GRCm39) L33F probably benign Het
Slc16a7 T A 10: 125,066,802 (GRCm39) Y279F probably damaging Het
Slc8a1 T C 17: 81,696,142 (GRCm39) Y964C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Sspo C A 6: 48,455,313 (GRCm39) C3047* probably null Het
Tmprss11b C T 5: 86,815,182 (GRCm39) probably null Het
Txnrd1 T G 10: 82,715,051 (GRCm39) W98G probably damaging Het
Ulk1 A T 5: 110,957,000 (GRCm39) I66N probably damaging Het
Ush2a A G 1: 188,554,893 (GRCm39) Y3557C probably damaging Het
Vmn2r57 T A 7: 41,077,650 (GRCm39) H172L probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp592 T A 7: 80,691,474 (GRCm39) C1218S probably benign Het
Other mutations in Msra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Msra APN 14 64,360,774 (GRCm39) missense probably damaging 0.99
IGL01301:Msra APN 14 64,447,884 (GRCm39) missense probably damaging 1.00
IGL03227:Msra APN 14 64,551,192 (GRCm39) missense probably benign 0.06
ANU18:Msra UTSW 14 64,447,884 (GRCm39) missense probably damaging 1.00
R0485:Msra UTSW 14 64,678,210 (GRCm39) missense possibly damaging 0.64
R0632:Msra UTSW 14 64,447,981 (GRCm39) missense probably benign 0.04
R1557:Msra UTSW 14 64,360,775 (GRCm39) missense possibly damaging 0.75
R1940:Msra UTSW 14 64,522,505 (GRCm39) splice site probably benign
R2133:Msra UTSW 14 64,471,377 (GRCm39) missense probably damaging 1.00
R2135:Msra UTSW 14 64,360,657 (GRCm39) missense probably damaging 1.00
R6119:Msra UTSW 14 64,678,183 (GRCm39) missense probably damaging 1.00
R6602:Msra UTSW 14 64,360,788 (GRCm39) missense probably benign 0.01
R7233:Msra UTSW 14 64,360,714 (GRCm39) missense probably damaging 1.00
R7249:Msra UTSW 14 64,678,212 (GRCm39) missense probably benign 0.17
R8047:Msra UTSW 14 64,522,612 (GRCm39) missense probably damaging 1.00
R9271:Msra UTSW 14 64,471,269 (GRCm39) splice site probably null
R9411:Msra UTSW 14 64,471,331 (GRCm39) missense probably benign 0.25
Posted On 2015-04-16