Incidental Mutation 'IGL02823:Grxcr2'
ID 361095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grxcr2
Ensembl Gene ENSMUSG00000073574
Gene Name glutaredoxin, cysteine rich 2
Synonyms LOC332309
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02823
Quality Score
Status
Chromosome 18
Chromosomal Location 42118388-42132114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42125046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 121 (K121E)
Ref Sequence ENSEMBL: ENSMUSP00000095198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097591]
AlphaFold Q3TYR5
Predicted Effect probably damaging
Transcript: ENSMUST00000097591
AA Change: K121E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 protein containing a glutaredoxin domain, which functions in protein S-glutathionylation. A mutation in this gene was found in a family with autoosomal recessive nonsyndromic sensorineural deafness-101. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,410,074 (GRCm39) S194P probably damaging Het
Abca7 T A 10: 79,844,656 (GRCm39) D1488E probably damaging Het
Abhd18 A G 3: 40,887,953 (GRCm39) probably benign Het
Atp6ap1l A G 13: 91,047,644 (GRCm39) V56A probably benign Het
Atrip A G 9: 108,890,246 (GRCm39) Y631H probably damaging Het
C9orf72 A T 4: 35,213,031 (GRCm39) C215S probably damaging Het
Dst A T 1: 34,231,164 (GRCm39) H3097L possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eif2a G T 3: 58,456,092 (GRCm39) A364S probably benign Het
Eps8l2 A T 7: 140,921,988 (GRCm39) D22V probably damaging Het
Fndc7 A G 3: 108,776,487 (GRCm39) F432S probably damaging Het
Gemin5 T C 11: 58,058,531 (GRCm39) probably benign Het
Gucy1a2 T C 9: 3,894,656 (GRCm39) I713T possibly damaging Het
Hs3st1 A G 5: 39,772,100 (GRCm39) L181P probably damaging Het
Ksr1 C A 11: 78,912,229 (GRCm39) V627L probably benign Het
Lama2 T C 10: 26,877,141 (GRCm39) N2682D probably damaging Het
Lratd2 T C 15: 60,694,972 (GRCm39) D258G probably damaging Het
Map3k19 G T 1: 127,750,001 (GRCm39) H1117N probably benign Het
Mdc1 C T 17: 36,163,815 (GRCm39) A1121V probably damaging Het
Nlrp1a C T 11: 70,983,249 (GRCm39) S1239N probably damaging Het
Or2w3 T C 11: 58,556,793 (GRCm39) M136T possibly damaging Het
Prkra G T 2: 76,460,768 (GRCm39) A310E probably damaging Het
Prl2c1 T C 13: 28,040,416 (GRCm39) probably benign Het
Prl7a2 T C 13: 27,846,734 (GRCm39) Y93C possibly damaging Het
Prob1 A T 18: 35,785,800 (GRCm39) V818E possibly damaging Het
Rbbp8 A G 18: 11,865,270 (GRCm39) S720G possibly damaging Het
Rexo4 T C 2: 26,852,489 (GRCm39) T149A probably benign Het
Slc39a2 T A 14: 52,132,869 (GRCm39) Y271N probably damaging Het
Sprr2d T A 3: 92,247,734 (GRCm39) C58* probably null Het
Srebf2 G A 15: 82,083,975 (GRCm39) G965D possibly damaging Het
Tcof1 T C 18: 60,949,120 (GRCm39) E1265G probably benign Het
Terf2 T C 8: 107,799,257 (GRCm39) N389S possibly damaging Het
Vsig10l T C 7: 43,115,888 (GRCm39) S410P probably damaging Het
Vwa3b A T 1: 37,225,985 (GRCm39) probably benign Het
Other mutations in Grxcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Grxcr2 APN 18 42,132,047 (GRCm39) missense probably damaging 1.00
R3625:Grxcr2 UTSW 18 42,131,883 (GRCm39) missense probably damaging 0.97
R4452:Grxcr2 UTSW 18 42,119,609 (GRCm39) missense probably damaging 1.00
R5317:Grxcr2 UTSW 18 42,131,916 (GRCm39) missense probably damaging 0.99
R6054:Grxcr2 UTSW 18 42,119,743 (GRCm39) missense probably benign 0.01
R6483:Grxcr2 UTSW 18 42,124,955 (GRCm39) missense probably benign
R6493:Grxcr2 UTSW 18 42,131,766 (GRCm39) missense possibly damaging 0.52
R8702:Grxcr2 UTSW 18 42,131,754 (GRCm39) missense possibly damaging 0.92
R9666:Grxcr2 UTSW 18 42,131,956 (GRCm39) missense probably damaging 1.00
R9703:Grxcr2 UTSW 18 42,124,988 (GRCm39) missense possibly damaging 0.94
Posted On 2015-12-18