Incidental Mutation 'R3726:Gsr'
ID 270790
Institutional Source Beutler Lab
Gene Symbol Gsr
Ensembl Gene ENSMUSG00000031584
Gene Name glutathione reductase
Synonyms D8Ertd238e, Gr-1, Gr1
MMRRC Submission 040717-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R3726 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 34143266-34188190 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34161565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 124 (K124R)
Ref Sequence ENSEMBL: ENSMUSP00000033992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033992]
AlphaFold P47791
Predicted Effect probably benign
Transcript: ENSMUST00000033992
AA Change: K124R

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584
AA Change: K124R

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: ENSMUST00000154745
Meta Mutation Damage Score 0.1890 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (49/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402K13Rik AGAGGAG AGAG X: 8,971,342 (GRCm39) probably benign Het
Caap1 A T 4: 94,389,380 (GRCm39) V318D probably damaging Het
Camsap3 T C 8: 3,653,785 (GRCm39) L485P probably damaging Het
Ccsap T C 8: 124,586,100 (GRCm39) E17G possibly damaging Het
Cdk5rap2 C A 4: 70,153,674 (GRCm39) K1716N possibly damaging Het
Coq3 T C 4: 21,892,941 (GRCm39) probably benign Het
Daam2 T A 17: 49,776,766 (GRCm39) D773V probably damaging Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fam209 T C 2: 172,315,915 (GRCm39) S97P probably benign Het
Fam50b G A 13: 34,930,869 (GRCm39) R115H probably damaging Het
Fbxo31 A G 8: 122,305,248 (GRCm39) F83L probably damaging Het
Fsip2 G T 2: 82,819,311 (GRCm39) A5015S possibly damaging Het
Galnt13 A G 2: 54,988,669 (GRCm39) H497R probably damaging Het
Ggnbp2 A G 11: 84,744,920 (GRCm39) C201R possibly damaging Het
Gm8730 T C 8: 103,591,664 (GRCm39) noncoding transcript Het
Hdgf T C 3: 87,821,804 (GRCm39) S140P probably benign Het
Iqcg C T 16: 32,849,411 (GRCm39) E292K probably damaging Het
Lamb1 C T 12: 31,371,074 (GRCm39) A1375V probably null Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lonp1 A G 17: 56,925,310 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Or6c212 A T 10: 129,558,984 (GRCm39) V143D probably damaging Het
Pcdhb9 T C 18: 37,534,654 (GRCm39) L216P possibly damaging Het
Ppp3cb A G 14: 20,581,010 (GRCm39) probably null Het
Ptprm G A 17: 67,263,855 (GRCm39) P464L possibly damaging Het
Rars2 A G 4: 34,645,787 (GRCm39) T235A probably benign Het
Rimkla A T 4: 119,334,986 (GRCm39) probably null Het
Rnf216 A T 5: 143,013,701 (GRCm39) I708N probably damaging Het
Six5 T A 7: 18,830,855 (GRCm39) V494E possibly damaging Het
Slc43a2 A G 11: 75,433,980 (GRCm39) probably benign Het
Slmap C A 14: 26,148,397 (GRCm39) R671S probably damaging Het
Smarcal1 T C 1: 72,665,755 (GRCm39) F751S possibly damaging Het
Sptan1 G A 2: 29,908,431 (GRCm39) D1711N possibly damaging Het
Sptssa T C 12: 54,703,180 (GRCm39) E30G probably damaging Het
Taf1c A G 8: 120,329,809 (GRCm39) F111L probably damaging Het
Thbs1 A G 2: 117,945,191 (GRCm39) I255V probably benign Het
Tmem19 A G 10: 115,195,675 (GRCm39) probably benign Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tmod1 T C 4: 46,097,026 (GRCm39) V273A probably benign Het
Trpm8 A T 1: 88,255,918 (GRCm39) Y191F probably benign Het
Ube4a T C 9: 44,844,621 (GRCm39) I934V probably damaging Het
Vpreb3 G A 10: 75,779,125 (GRCm39) probably null Het
Vwf G T 6: 125,654,911 (GRCm39) probably benign Het
Wdr53 T C 16: 32,075,538 (GRCm39) C248R probably benign Het
Zfp217 A G 2: 169,961,130 (GRCm39) V399A probably damaging Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S 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
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
R9362:Gsr UTSW 8 34,179,406 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGCATGCTTCAGGATGGAAC -3'
(R):5'- AAAGAGACTGGCCTACTGGGTC -3'

Sequencing Primer
(F):5'- CAAGACCTCAGCACCTGGG -3'
(R):5'- TACTGGGTCAAAGGCCTACTGAATC -3'
Posted On 2015-03-18