Incidental Mutation 'R9362:Gsr'
ID 708753
Institutional Source Beutler Lab
Gene Symbol Gsr
Ensembl Gene ENSMUSG00000031584
Gene Name glutathione reductase
Synonyms D8Ertd238e, Gr-1, Gr1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R9362 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 34143266-34188190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34179406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 338 (D338V)
Ref Sequence ENSEMBL: ENSMUSP00000033992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033992]
AlphaFold P47791
Predicted Effect probably damaging
Transcript: ENSMUST00000033992
AA Change: D338V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: D338V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,236,626 (GRCm39) N798I possibly damaging Het
Ahdc1 G A 4: 132,790,348 (GRCm39) V530I probably benign Het
Arhgef17 A C 7: 100,580,165 (GRCm39) L261R probably benign Het
Bcr C A 10: 74,993,023 (GRCm39) N839K probably benign Het
Bltp1 A G 3: 37,011,162 (GRCm39) T1786A probably benign Het
Bmpr1a A G 14: 34,156,360 (GRCm39) I169T probably benign Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Ccdc88a T A 11: 29,453,922 (GRCm39) L1695Q probably null Het
Cnr1 T C 4: 33,944,038 (GRCm39) I142T probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Elmod1 T A 9: 53,833,304 (GRCm39) D167V possibly damaging Het
Fam136a C T 6: 86,345,855 (GRCm39) T124I possibly damaging Het
Galnt13 A G 2: 54,623,064 (GRCm39) D70G probably benign Het
Ggcx T G 6: 72,405,015 (GRCm39) N474K probably damaging Het
Gm10295 C A 7: 71,000,755 (GRCm39) probably benign Het
Gm5145 A G 17: 20,791,342 (GRCm39) H240R probably damaging Het
Hcfc2 C T 10: 82,574,258 (GRCm39) P144L probably damaging Het
Igf2r A T 17: 12,941,062 (GRCm39) I473N probably benign Het
Ighv5-8 A T 12: 113,616,940 (GRCm39) D107E probably benign Het
Il23r T A 6: 67,400,384 (GRCm39) S649C probably damaging Het
Ltbp3 A G 19: 5,803,697 (GRCm39) D794G probably benign Het
Mapk3 A G 7: 126,363,444 (GRCm39) I273V Het
Mycbp2 C T 14: 103,497,642 (GRCm39) V977I probably damaging Het
Myh7 A G 14: 55,222,932 (GRCm39) F758L probably benign Het
Myom1 A T 17: 71,343,288 (GRCm39) I162F probably benign Het
Ncor2 C T 5: 125,095,265 (GRCm39) C1541Y Het
Nwd2 G T 5: 63,961,747 (GRCm39) D444Y probably benign Het
Obsl1 A G 1: 75,482,391 (GRCm39) Y160H probably benign Het
Or8u8 C A 2: 86,011,732 (GRCm39) C241F probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Sall2 T A 14: 52,550,601 (GRCm39) K865* probably null Het
Shank2 A T 7: 143,963,271 (GRCm39) D293V probably damaging Het
Sidt1 T C 16: 44,078,316 (GRCm39) Y649C possibly damaging Het
Slc11a2 T C 15: 100,304,236 (GRCm39) E154G probably damaging Het
Slc5a12 C T 2: 110,447,044 (GRCm39) T184I probably damaging Het
Slfn3 T C 11: 83,103,807 (GRCm39) I226T probably benign Het
Snapc4 T A 2: 26,254,865 (GRCm39) N1220Y probably damaging Het
Tars1 A G 15: 11,387,616 (GRCm39) C557R probably damaging Het
Tead2 A G 7: 44,881,740 (GRCm39) E402G probably damaging Het
Zfp37 G A 4: 62,110,299 (GRCm39) S296F probably benign Het
Other mutations in Gsr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Gsr APN 8 34,172,612 (GRCm39) splice site probably benign
IGL02481:Gsr APN 8 34,175,569 (GRCm39) splice site probably benign
IGL02941:Gsr APN 8 34,179,453 (GRCm39) missense probably damaging 0.98
IGL03242:Gsr APN 8 34,175,627 (GRCm39) missense probably benign
IGL03293:Gsr APN 8 34,185,024 (GRCm39) splice site probably benign
R0208:Gsr UTSW 8 34,179,383 (GRCm39) missense possibly damaging 0.45
R0490:Gsr UTSW 8 34,161,540 (GRCm39) splice site probably benign
R0492:Gsr UTSW 8 34,171,603 (GRCm39) splice site probably benign
R0524:Gsr UTSW 8 34,159,208 (GRCm39) critical splice donor site probably null
R1104:Gsr UTSW 8 34,159,949 (GRCm39) missense probably damaging 1.00
R1976:Gsr UTSW 8 34,170,288 (GRCm39) splice site probably null
R2507:Gsr UTSW 8 34,170,316 (GRCm39) missense probably benign 0.45
R2508:Gsr UTSW 8 34,170,316 (GRCm39) missense probably benign 0.45
R3726:Gsr UTSW 8 34,161,565 (GRCm39) missense probably benign 0.11
R4573:Gsr UTSW 8 34,183,881 (GRCm39) missense probably benign 0.00
R4623:Gsr UTSW 8 34,170,333 (GRCm39) missense probably damaging 0.99
R4639:Gsr UTSW 8 34,187,284 (GRCm39) missense probably damaging 1.00
R4713:Gsr UTSW 8 34,170,347 (GRCm39) critical splice donor site probably null
R4717:Gsr UTSW 8 34,183,886 (GRCm39) nonsense probably null
R4992:Gsr UTSW 8 34,183,941 (GRCm39) missense probably damaging 1.00
R5099:Gsr UTSW 8 34,161,556 (GRCm39) missense probably damaging 1.00
R6019:Gsr UTSW 8 34,183,835 (GRCm39) missense probably damaging 0.97
R7046:Gsr UTSW 8 34,185,090 (GRCm39) missense probably damaging 1.00
R7570:Gsr UTSW 8 34,159,193 (GRCm39) missense probably damaging 1.00
R8955:Gsr UTSW 8 34,183,936 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TTCTCTTAAGGAAGCTGTGGGAC -3'
(R):5'- AAGGAATGACCGCTTTTCACAG -3'

Sequencing Primer
(F):5'- AAGCTGTGGGACTTGTCAAC -3'
(R):5'- AGTCACAGTCAAGTTGCCG -3'
Posted On 2022-04-18