Incidental Mutation 'R5317:Grxcr2'
ID 405894
Institutional Source Beutler Lab
Gene Symbol Grxcr2
Ensembl Gene ENSMUSG00000073574
Gene Name glutaredoxin, cysteine rich 2
Synonyms LOC332309
MMRRC Submission 042900-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5317 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 42118388-42132114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42131916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 51 (H51L)
Ref Sequence ENSEMBL: ENSMUSP00000095198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097591]
AlphaFold Q3TYR5
Predicted Effect probably damaging
Transcript: ENSMUST00000097591
AA Change: H51L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.6%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih1 A C 9: 59,300,619 (GRCm39) H542Q probably benign Het
Ccn4 T G 15: 66,789,131 (GRCm39) S206A probably benign Het
Cnot8 T C 11: 58,004,029 (GRCm39) S155P probably damaging Het
Dcc C T 18: 71,517,226 (GRCm39) E810K possibly damaging Het
Dmrt2 T C 19: 25,650,844 (GRCm39) V10A probably benign Het
Dnah17 G A 11: 118,018,109 (GRCm39) R129W possibly damaging Het
Eif4a3 G T 11: 119,185,490 (GRCm39) H117N probably damaging Het
Fhip2a T A 19: 57,370,141 (GRCm39) probably null Het
Gpr179 T A 11: 97,228,671 (GRCm39) Q1161H probably damaging Het
Grm1 T G 10: 10,622,443 (GRCm39) M427L possibly damaging Het
Il1rn C T 2: 24,239,554 (GRCm39) T150I probably benign Het
Kcnc4 C T 3: 107,366,055 (GRCm39) R51H probably damaging Het
Kcnh3 T C 15: 99,125,822 (GRCm39) S160P probably benign Het
Lrrc37 T C 11: 103,504,971 (GRCm39) I2332M possibly damaging Het
Mcm9 G A 10: 53,414,330 (GRCm39) P250L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr2 T C 9: 13,704,475 (GRCm39) F201L probably benign Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pan3 T C 5: 147,480,020 (GRCm39) probably null Het
Pcdhgb7 T A 18: 37,885,887 (GRCm39) D352E probably benign Het
Pdgfa A G 5: 138,974,102 (GRCm39) probably null Het
Pkhd1 T C 1: 20,520,528 (GRCm39) D1938G probably damaging Het
Plac8 C T 5: 100,704,345 (GRCm39) probably null Het
Rab11fip3 T C 17: 26,287,052 (GRCm39) E367G possibly damaging Het
Sgo2a C T 1: 58,054,683 (GRCm39) P289L probably benign Het
Slc22a18 T C 7: 143,052,896 (GRCm39) Y374H probably damaging Het
Slco2a1 T C 9: 102,956,778 (GRCm39) V530A probably benign Het
Spty2d1 A T 7: 46,648,049 (GRCm39) S293R possibly damaging Het
Stt3b G T 9: 115,081,578 (GRCm39) Y569* probably null Het
Tas2r140 A G 6: 133,032,543 (GRCm39) Y72H probably benign Het
Usp35 C T 7: 96,960,846 (GRCm39) R860H probably damaging Het
Vmn2r130 T A 17: 23,282,557 (GRCm39) M79K probably benign Het
Vsig10l T C 7: 43,114,247 (GRCm39) S190P probably damaging Het
Wwc2 C T 8: 48,300,590 (GRCm39) D958N unknown Het
Zfp318 AAGAAGG A 17: 46,723,463 (GRCm39) probably benign Het
Other mutations in Grxcr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01736:Grxcr2 APN 18 42,132,047 (GRCm39) missense probably damaging 1.00
IGL02823:Grxcr2 APN 18 42,125,046 (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
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
Predicted Primers PCR Primer
(F):5'- TCGCCTTGTAGTCATTGAACAG -3'
(R):5'- AAATGCCCTTTTCTCAGAGCC -3'

Sequencing Primer
(F):5'- CCTTGTAGTCATTGAACAGAGGCTG -3'
(R):5'- CTCAGAGCCTGGTTTCACTGG -3'
Posted On 2016-07-22