Incidental Mutation 'IGL02941:Gsr'
ID364511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsr
Ensembl Gene ENSMUSG00000031584
Gene Nameglutathione reductase
SynonymsD8Ertd238e, Gr-1, Gr1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL02941
Quality Score
Status
Chromosome8
Chromosomal Location33652523-33698163 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33689425 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 354 (V354I)
Ref Sequence ENSEMBL: ENSMUSP00000033992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033992]
Predicted Effect probably damaging
Transcript: ENSMUST00000033992
AA Change: V354I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: V354I

DomainStartEndE-ValueType
low complexity region 17 22 N/A INTRINSIC
Pfam:Pyr_redox_2 43 368 1.2e-73 PFAM
Pfam:Pyr_redox 211 292 1.7e-21 PFAM
Pfam:Pyr_redox_dim 389 500 1.6e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158231
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 member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
PHENOTYPE: A homozygous mutation disrupting this gene between exon 1-2 results in a decreased retinal artery-to-vein ratio. Another small deletion of exons 2-5 has no phenotypic effect. Electrophoretic alleles designated a (C57BL/6, CE) vs. allele b (SJL, SWR) are known. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,599,536 R106Q probably damaging Het
Amhr2 T C 15: 102,447,289 V223A probably damaging Het
Aqr T A 2: 114,113,354 H1101L probably damaging Het
Arnt T A 3: 95,460,370 probably benign Het
Cacnb2 G A 2: 14,958,829 V85I probably benign Het
Cast A T 13: 74,700,687 D727E probably damaging Het
Ccdc134 C T 15: 82,140,950 R217W probably damaging Het
Col5a3 A G 9: 20,804,666 S360P unknown Het
Cyp4f16 T C 17: 32,537,087 I30T possibly damaging Het
Dopey2 T C 16: 93,755,473 F267L probably benign Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Gm4953 C T 1: 159,168,393 noncoding transcript Het
Gm9242 T C 16: 97,491,079 probably benign Het
Hecw1 T A 13: 14,377,726 D96V probably damaging Het
Hist2h2be A G 3: 96,221,416 Y84C possibly damaging Het
Il18r1 A G 1: 40,498,551 Y492C probably damaging Het
Itgb5 T G 16: 33,944,095 probably benign Het
Lars2 T G 9: 123,459,585 L832R probably damaging Het
Ms4a6c A G 19: 11,471,102 probably benign Het
Nrxn1 T C 17: 90,208,383 S1227G probably damaging Het
Olfr15 T C 16: 3,839,816 V281A possibly damaging Het
Olfr339 T C 2: 36,422,120 C241R probably damaging Het
Olfr584 A G 7: 103,086,321 T263A probably benign Het
Pcdh17 A G 14: 84,448,307 Y738C probably damaging Het
Pcsk5 C A 19: 17,447,501 C1646F probably damaging Het
Pirb A G 7: 3,717,378 V332A probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polrmt A T 10: 79,737,258 probably benign Het
Saxo1 G T 4: 86,445,584 R221S probably damaging Het
Specc1l A G 10: 75,241,188 I93V probably benign Het
St8sia2 T A 7: 73,976,649 probably benign Het
Tep1 A T 14: 50,866,037 N265K probably damaging Het
Thbd A T 2: 148,407,034 Y305N probably damaging Het
Tmem120a T C 5: 135,735,751 T325A probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Vill G A 9: 119,066,887 probably benign Het
Wdr35 A G 12: 9,027,507 D1060G probably damaging Het
Xrn2 T A 2: 147,026,524 F166I probably damaging Het
Zc3h7a T G 16: 11,158,594 probably null Het
Zdhhc13 G A 7: 48,817,138 probably benign Het
Zfp808 T A 13: 62,173,130 N724K possibly damaging Het
Other mutations in Gsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Gsr APN 8 33682584 splice site probably benign
IGL02481:Gsr APN 8 33685541 splice site probably benign
IGL03242:Gsr APN 8 33685599 missense probably benign
IGL03293:Gsr APN 8 33694996 splice site probably benign
R0208:Gsr UTSW 8 33689355 missense possibly damaging 0.45
R0490:Gsr UTSW 8 33671512 splice site probably benign
R0492:Gsr UTSW 8 33681575 splice site probably benign
R0524:Gsr UTSW 8 33669180 critical splice donor site probably null
R1104:Gsr UTSW 8 33669921 missense probably damaging 1.00
R1976:Gsr UTSW 8 33680260 splice site probably null
R2507:Gsr UTSW 8 33680288 missense probably benign 0.45
R2508:Gsr UTSW 8 33680288 missense probably benign 0.45
R3726:Gsr UTSW 8 33671537 missense probably benign 0.11
R4573:Gsr UTSW 8 33693853 missense probably benign 0.00
R4623:Gsr UTSW 8 33680305 missense probably damaging 0.99
R4639:Gsr UTSW 8 33697256 missense probably damaging 1.00
R4713:Gsr UTSW 8 33680319 critical splice donor site probably null
R4717:Gsr UTSW 8 33693858 nonsense probably null
R4992:Gsr UTSW 8 33693913 missense probably damaging 1.00
R5099:Gsr UTSW 8 33671528 missense probably damaging 1.00
R6019:Gsr UTSW 8 33693807 missense probably damaging 0.97
R7046:Gsr UTSW 8 33695062 missense probably damaging 1.00
R7570:Gsr UTSW 8 33669165 missense probably damaging 1.00
Posted On2015-12-18