|Institutional Source||Beutler Lab|
|Gene Name||glutaredoxin, cysteine rich 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6493 (G1)|
|Chromosomal Location||41986201-41999049 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 41998701 bp|
|Amino Acid Change||Proline to Leucine at position 101 (P101L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000095198 (fasta)|
|Predicted Effect||possibly damaging
AA Change: P101L
PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|Coding Region Coverage||
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||
|Other mutations in Grxcr2||
(F):5'- TTCCAGCGAGTAGTCAACCC -3'
(R):5'- TGGGCAAGAATTAGAGTCGC -3'
(F):5'- AGCGAGTAGTCAACCCGTGTG -3'
(R):5'- TTAGAGTCGCCCAAAGAAGAATATC -3'