Incidental Mutation 'IGL02161:Glrx2'
ID 282493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glrx2
Ensembl Gene ENSMUSG00000018196
Gene Name glutaredoxin 2
Synonyms Grx2, thioltransferase, 1700010P22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL02161
Quality Score
Status
Chromosome 1
Chromosomal Location 143614787-143625416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143615421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 8 (S8L)
Ref Sequence ENSEMBL: ENSMUSP00000053443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050491] [ENSMUST00000111957] [ENSMUST00000129653] [ENSMUST00000145571] [ENSMUST00000145969] [ENSMUST00000185362]
AlphaFold Q923X4
Predicted Effect possibly damaging
Transcript: ENSMUST00000050491
AA Change: S8L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053443
Gene: ENSMUSG00000018196
AA Change: S8L

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
Pfam:Glutaredoxin 62 124 1.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111957
SMART Domains Protein: ENSMUSP00000107588
Gene: ENSMUSG00000018196

DomainStartEndE-ValueType
Pfam:Glutaredoxin 29 91 8.3e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126514
Predicted Effect probably benign
Transcript: ENSMUST00000129653
SMART Domains Protein: ENSMUSP00000121010
Gene: ENSMUSG00000018196

DomainStartEndE-ValueType
Pfam:Glutaredoxin 29 91 8.3e-22 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000145571
AA Change: S8L
SMART Domains Protein: ENSMUSP00000115893
Gene: ENSMUSG00000018196
AA Change: S8L

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
Pfam:Glutaredoxin 62 117 1.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145969
SMART Domains Protein: ENSMUSP00000121665
Gene: ENSMUSG00000018196

DomainStartEndE-ValueType
Pfam:Glutaredoxin 29 91 8.3e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148600
Predicted Effect probably benign
Transcript: ENSMUST00000185362
AA Change: S8L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141022
Gene: ENSMUSG00000018196
AA Change: S8L

DomainStartEndE-ValueType
low complexity region 15 40 N/A INTRINSIC
Pfam:Glutaredoxin 62 124 1.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185367
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in primary mouse lens epithelial cells, and an increased level of glutathionylated proteins in mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A T 12: 118,838,490 (GRCm39) V1024D probably benign Het
Alox5 T A 6: 116,400,154 (GRCm39) M262L probably benign Het
Arid5b T C 10: 67,932,498 (GRCm39) T1135A probably benign Het
Ascc3 T A 10: 50,726,623 (GRCm39) Y2177* probably null Het
Birc6 A C 17: 74,855,832 (GRCm39) H214P probably damaging Het
Catsperb T A 12: 101,375,674 (GRCm39) probably benign Het
Ccr1l1 G A 9: 123,778,000 (GRCm39) T149I possibly damaging Het
Cfap57 T G 4: 118,436,569 (GRCm39) R942S possibly damaging Het
Crocc G A 4: 140,761,302 (GRCm39) A941V probably benign Het
Csde1 A G 3: 102,957,654 (GRCm39) Q471R probably damaging Het
Csmd1 C T 8: 16,408,426 (GRCm39) V380I probably damaging Het
Dhx8 A T 11: 101,648,432 (GRCm39) Q857L probably damaging Het
Eftud2 A G 11: 102,745,702 (GRCm39) probably benign Het
Fat3 C A 9: 15,908,346 (GRCm39) R2552I probably benign Het
Fat3 T A 9: 15,908,347 (GRCm39) R2552* probably null Het
Fbln7 A T 2: 128,731,711 (GRCm39) K166I probably benign Het
Grin2d T G 7: 45,503,846 (GRCm39) I630L possibly damaging Het
Gsap T A 5: 21,458,377 (GRCm39) W423R probably damaging Het
Kifc2 A G 15: 76,550,245 (GRCm39) E468G probably damaging Het
Kpnb1 A G 11: 97,059,762 (GRCm39) S566P probably benign Het
Lemd2 A G 17: 27,409,625 (GRCm39) S509P probably damaging Het
Lepr T C 4: 101,602,875 (GRCm39) F221S probably damaging Het
Nynrin T C 14: 56,101,441 (GRCm39) F370S probably damaging Het
Or51a10 C A 7: 103,698,797 (GRCm39) V255L possibly damaging Het
Pcdhb15 T A 18: 37,608,555 (GRCm39) S596T possibly damaging Het
Prkcq G T 2: 11,281,887 (GRCm39) S472I probably benign Het
Rabgef1 T C 5: 130,235,940 (GRCm39) probably benign Het
Rnd3 C T 2: 51,024,088 (GRCm39) V164M probably benign Het
Rtn4rl1 G A 11: 75,156,666 (GRCm39) R366Q probably damaging Het
Sesn2 A T 4: 132,224,229 (GRCm39) I393N probably damaging Het
St8sia2 T C 7: 73,626,430 (GRCm39) N46S probably benign Het
Svopl A G 6: 38,013,750 (GRCm39) probably benign Het
Tbr1 C T 2: 61,635,583 (GRCm39) Q178* probably null Het
Vax2 T C 6: 83,714,885 (GRCm39) S267P probably damaging Het
Vmn1r47 T A 6: 89,999,298 (GRCm39) Y143* probably null Het
Vmn2r28 A G 7: 5,491,123 (GRCm39) S375P possibly damaging Het
Vmn2r44 A T 7: 8,380,814 (GRCm39) Y360N possibly damaging Het
Zc3h6 G A 2: 128,835,146 (GRCm39) S94N possibly damaging Het
Other mutations in Glrx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1728:Glrx2 UTSW 1 143,615,478 (GRCm39) missense possibly damaging 0.90
R1762:Glrx2 UTSW 1 143,615,478 (GRCm39) missense possibly damaging 0.90
R1783:Glrx2 UTSW 1 143,615,478 (GRCm39) missense possibly damaging 0.90
R1784:Glrx2 UTSW 1 143,615,478 (GRCm39) missense possibly damaging 0.90
R1785:Glrx2 UTSW 1 143,615,478 (GRCm39) missense possibly damaging 0.90
R2132:Glrx2 UTSW 1 143,620,842 (GRCm39) missense possibly damaging 0.92
R4362:Glrx2 UTSW 1 143,617,418 (GRCm39) missense possibly damaging 0.71
R5418:Glrx2 UTSW 1 143,615,446 (GRCm39) missense possibly damaging 0.83
R5496:Glrx2 UTSW 1 143,620,945 (GRCm39) missense probably damaging 0.98
R5952:Glrx2 UTSW 1 143,620,872 (GRCm39) missense probably benign 0.03
R6225:Glrx2 UTSW 1 143,621,121 (GRCm39) intron probably benign
R9506:Glrx2 UTSW 1 143,622,270 (GRCm39) nonsense probably null
R9683:Glrx2 UTSW 1 143,622,292 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16