|Institutional Source||Beutler Lab|
|Gene Name||glutathione reductase|
|Synonyms||D8Ertd238e, Gr-1, Gr1|
|Is this an essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R4623 (G1)|
|Chromosomal Location||33652523-33698163 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 33680305 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 206 (E206G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033992 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033992]|
|Predicted Effect||probably damaging
AA Change: E206G
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: E206G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5953|
|Coding Region Coverage||
|Validation Efficiency||99% (88/89)|
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||
|Other mutations in Gsr||
(F):5'- ACAGTGCATTTTCTGAGAGTTG -3'
(R):5'- CCGAAACACTTAGGGTAGATCATGC -3'
(F):5'- GTTCTGGCTAAACATGACCGC -3'
(R):5'- CACTTAGGGTAGATCATGCTGAGAC -3'