Incidental Mutation 'IGL02823:Grxcr2'
ID361095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grxcr2
Ensembl Gene ENSMUSG00000073574
Gene Nameglutaredoxin, cysteine rich 2
SynonymsLOC332309
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02823
Quality Score
Status
Chromosome18
Chromosomal Location41986201-41999049 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 41991981 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 121 (K121E)
Ref Sequence ENSEMBL: ENSMUSP00000095198 (fasta)
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: 77,261,955 S194P probably damaging Het
3110043O21Rik A T 4: 35,213,031 C215S probably damaging Het
Abca7 T A 10: 80,008,822 D1488E probably damaging Het
Abhd18 A G 3: 40,933,518 probably benign Het
Atp6ap1l A G 13: 90,899,525 V56A probably benign Het
Atrip A G 9: 109,061,178 Y631H probably damaging Het
Dst A T 1: 34,192,083 H3097L possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eif2a G T 3: 58,548,671 A364S probably benign Het
Eps8l2 A T 7: 141,342,075 D22V probably damaging Het
Fam84b T C 15: 60,823,123 D258G probably damaging Het
Fndc7 A G 3: 108,869,171 F432S probably damaging Het
Gemin5 T C 11: 58,167,705 probably benign Het
Gucy1a2 T C 9: 3,894,656 I713T possibly damaging Het
Hs3st1 A G 5: 39,614,757 L181P probably damaging Het
Ksr1 C A 11: 79,021,403 V627L probably benign Het
Lama2 T C 10: 27,001,145 N2682D probably damaging Het
Map3k19 G T 1: 127,822,264 H1117N probably benign Het
Mdc1 C T 17: 35,852,923 A1121V probably damaging Het
Nlrp1a C T 11: 71,092,423 S1239N probably damaging Het
Olfr322 T C 11: 58,665,967 M136T possibly damaging Het
Prkra G T 2: 76,630,424 A310E probably damaging Het
Prl2c1 T C 13: 27,856,433 probably benign Het
Prl7a2 T C 13: 27,662,751 Y93C possibly damaging Het
Prob1 A T 18: 35,652,747 V818E possibly damaging Het
Rbbp8 A G 18: 11,732,213 S720G possibly damaging Het
Rexo4 T C 2: 26,962,477 T149A probably benign Het
Slc39a2 T A 14: 51,895,412 Y271N probably damaging Het
Sprr2d T A 3: 92,340,427 C58* probably null Het
Srebf2 G A 15: 82,199,774 G965D possibly damaging Het
Tcof1 T C 18: 60,816,048 E1265G probably benign Het
Terf2 T C 8: 107,072,625 N389S possibly damaging Het
Vsig10l T C 7: 43,466,464 S410P probably damaging Het
Vwa3b A T 1: 37,186,904 probably benign Het
Other mutations in Grxcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Grxcr2 APN 18 41998982 missense probably damaging 1.00
R3625:Grxcr2 UTSW 18 41998818 missense probably damaging 0.97
R4452:Grxcr2 UTSW 18 41986544 missense probably damaging 1.00
R5317:Grxcr2 UTSW 18 41998851 missense probably damaging 0.99
R6054:Grxcr2 UTSW 18 41986678 missense probably benign 0.01
R6483:Grxcr2 UTSW 18 41991890 missense probably benign
R6493:Grxcr2 UTSW 18 41998701 missense possibly damaging 0.52
Posted On2015-12-18