Incidental Mutation 'R0490:Gsr'
ID 43445
Institutional Source Beutler Lab
Gene Symbol Gsr
Ensembl Gene ENSMUSG00000031584
Gene Name glutathione reductase
Synonyms D8Ertd238e, Gr-1, Gr1
MMRRC Submission 038688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R0490 (G1)
Quality Score 217
Status Validated
Chromosome 8
Chromosomal Location 34143266-34188190 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 34161540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033992]
AlphaFold P47791
Predicted Effect probably benign
Transcript: ENSMUST00000033992
SMART Domains Protein: ENSMUSP00000033992
Gene: ENSMUSG00000031584

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 100% (60/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,103,338 (GRCm39) Y640N probably damaging Het
Adamts9 T A 6: 92,849,847 (GRCm39) Q402L probably benign Het
Als2cl A G 9: 110,724,414 (GRCm39) T750A probably benign Het
Ank1 C A 8: 23,597,890 (GRCm39) probably benign Het
Ap4e1 T A 2: 126,888,106 (GRCm39) N404K probably damaging Het
Atf7ip G T 6: 136,586,190 (GRCm39) probably benign Het
Bean1 A T 8: 104,941,660 (GRCm39) T169S possibly damaging Het
Bod1l G T 5: 41,979,235 (GRCm39) T693N probably damaging Het
Ccdc81 A T 7: 89,536,970 (GRCm39) V226D probably benign Het
Cd48 A G 1: 171,532,445 (GRCm39) *241W probably null Het
Cdon C A 9: 35,363,978 (GRCm39) S32Y probably damaging Het
Cers3 A G 7: 66,423,438 (GRCm39) S128G possibly damaging Het
Cntn6 T C 6: 104,810,879 (GRCm39) V641A possibly damaging Het
Col6a4 G A 9: 105,890,969 (GRCm39) T1775I probably damaging Het
Dnah8 T C 17: 30,919,393 (GRCm39) V1122A probably benign Het
Dst G T 1: 34,346,449 (GRCm39) G5102* probably null Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Epha5 G T 5: 84,255,833 (GRCm39) probably benign Het
Fscb G A 12: 64,519,661 (GRCm39) P602S unknown Het
Fxn A G 19: 24,254,543 (GRCm39) probably null Het
Gipc2 A G 3: 151,808,291 (GRCm39) L254P possibly damaging Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Gng8 A G 7: 16,628,908 (GRCm39) T14A probably benign Het
Gsdmc3 C T 15: 63,732,099 (GRCm39) G309D possibly damaging Het
Gtdc1 A T 2: 44,525,052 (GRCm39) D152E probably benign Het
Herc1 A G 9: 66,392,281 (GRCm39) D4063G probably damaging Het
Hsdl2 C T 4: 59,612,814 (GRCm39) probably benign Het
Iqgap3 T C 3: 88,021,363 (GRCm39) probably benign Het
Kcnj10 A G 1: 172,197,019 (GRCm39) T178A probably damaging Het
Lama5 T A 2: 179,821,962 (GRCm39) I2958F possibly damaging Het
Lnx1 T A 5: 74,781,008 (GRCm39) probably null Het
Lpl A G 8: 69,349,343 (GRCm39) R290G probably damaging Het
Mamdc4 C T 2: 25,453,593 (GRCm39) R1196K probably benign Het
Mogat2 T C 7: 98,872,351 (GRCm39) S167G probably benign Het
Nek8 T A 11: 78,058,555 (GRCm39) I582F probably benign Het
Notch4 T A 17: 34,801,864 (GRCm39) D1237E probably damaging Het
Or2y8 A G 11: 52,035,493 (GRCm39) I288T probably damaging Het
Or5b104 A G 19: 13,072,176 (GRCm39) Y279H probably damaging Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Or9i14 A G 19: 13,792,219 (GRCm39) L245P probably damaging Het
Pcdhb8 T C 18: 37,489,833 (GRCm39) S504P probably damaging Het
Pigs T C 11: 78,226,451 (GRCm39) S223P probably damaging Het
Prkch A G 12: 73,806,450 (GRCm39) I566V probably damaging Het
Ptpn22 T C 3: 103,793,495 (GRCm39) S549P probably damaging Het
Rita1 A T 5: 120,749,630 (GRCm39) F28I probably damaging Het
Rpgrip1l A T 8: 92,026,473 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,874,931 (GRCm39) K170E probably benign Het
Spag17 C T 3: 99,889,727 (GRCm39) R199W probably damaging Het
Tas2r116 T C 6: 132,832,984 (GRCm39) V195A probably benign Het
Trav7d-3 C A 14: 52,982,007 (GRCm39) probably benign Het
Trim15 T C 17: 37,177,247 (GRCm39) K138E probably benign Het
Ttn T A 2: 76,539,174 (GRCm39) H34604L probably benign Het
Ttn C T 2: 76,577,876 (GRCm39) R16012K probably damaging Het
Zfp948 T C 17: 21,808,296 (GRCm39) V496A probably benign Het
Zfy2 A T Y: 2,106,620 (GRCm39) S671R possibly damaging Het
Zswim1 T A 2: 164,667,203 (GRCm39) Y152N possibly damaging 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
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
R9362:Gsr UTSW 8 34,179,406 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGATGGAACAAGACCTCAGCAC -3'
(R):5'- GGACCCGGCATACACTCTCTATTTG -3'

Sequencing Primer
(F):5'- ACCTCAGCACCTGGGAAG -3'
(R):5'- CTGAATCAGTAAGGTCAGCTTCC -3'
Posted On 2013-05-23