Incidental Mutation 'IGL02161:Glrx2'
ID282493
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glrx2
Ensembl Gene ENSMUSG00000018196
Gene Nameglutaredoxin 2 (thioltransferase)
SynonymsGrx2, 1700010P22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL02161
Quality Score
Status
Chromosome1
Chromosomal Location143716338-143749676 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 143739683 bp
ZygosityHeterozygous
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]
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 noncoding transcript
Transcript: ENSMUST00000149103
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: ENSMUST00000185367
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190211
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: 118,874,755 V1024D probably benign Het
Alox5 T A 6: 116,423,193 M262L probably benign Het
Arid5b T C 10: 68,096,668 T1135A probably benign Het
Ascc3 T A 10: 50,850,527 Y2177* probably null Het
Birc6 A C 17: 74,548,837 H214P probably damaging Het
Catsperb T A 12: 101,409,415 probably benign Het
Ccr1l1 G A 9: 123,977,963 T149I possibly damaging Het
Cfap57 T G 4: 118,579,372 R942S possibly damaging Het
Crocc G A 4: 141,033,991 A941V probably benign Het
Csde1 A G 3: 103,050,338 Q471R probably damaging Het
Csmd1 C T 8: 16,358,412 V380I probably damaging Het
Dhx8 A T 11: 101,757,606 Q857L probably damaging Het
Eftud2 A G 11: 102,854,876 probably benign Het
Fat3 C A 9: 15,997,050 R2552I probably benign Het
Fat3 T A 9: 15,997,051 R2552* probably null Het
Fbln7 A T 2: 128,889,791 K166I probably benign Het
Grin2d T G 7: 45,854,422 I630L possibly damaging Het
Gsap T A 5: 21,253,379 W423R probably damaging Het
Kifc2 A G 15: 76,666,045 E468G probably damaging Het
Kpnb1 A G 11: 97,168,936 S566P probably benign Het
Lemd2 A G 17: 27,190,651 S509P probably damaging Het
Lepr T C 4: 101,745,678 F221S probably damaging Het
Nynrin T C 14: 55,863,984 F370S probably damaging Het
Olfr642 C A 7: 104,049,590 V255L possibly damaging Het
Pcdhb15 T A 18: 37,475,502 S596T possibly damaging Het
Prkcq G T 2: 11,277,076 S472I probably benign Het
Rabgef1 T C 5: 130,207,099 probably benign Het
Rnd3 C T 2: 51,134,076 V164M probably benign Het
Rtn4rl1 G A 11: 75,265,840 R366Q probably damaging Het
Sesn2 A T 4: 132,496,918 I393N probably damaging Het
St8sia2 T C 7: 73,976,682 N46S probably benign Het
Svopl A G 6: 38,036,815 probably benign Het
Tbr1 C T 2: 61,805,239 Q178* probably null Het
Vax2 T C 6: 83,737,903 S267P probably damaging Het
Vmn1r47 T A 6: 90,022,316 Y143* probably null Het
Vmn2r28 A G 7: 5,488,124 S375P possibly damaging Het
Vmn2r44 A T 7: 8,377,815 Y360N possibly damaging Het
Zc3h6 G A 2: 128,993,226 S94N possibly damaging Het
Other mutations in Glrx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1728:Glrx2 UTSW 1 143739740 missense possibly damaging 0.90
R1762:Glrx2 UTSW 1 143739740 missense possibly damaging 0.90
R1783:Glrx2 UTSW 1 143739740 missense possibly damaging 0.90
R1784:Glrx2 UTSW 1 143739740 missense possibly damaging 0.90
R1785:Glrx2 UTSW 1 143739740 missense possibly damaging 0.90
R2132:Glrx2 UTSW 1 143745104 missense possibly damaging 0.92
R4362:Glrx2 UTSW 1 143741680 missense possibly damaging 0.71
R5418:Glrx2 UTSW 1 143739708 missense possibly damaging 0.83
R5496:Glrx2 UTSW 1 143745207 missense probably damaging 0.98
R5952:Glrx2 UTSW 1 143745134 missense probably benign 0.03
R6225:Glrx2 UTSW 1 143745383 intron probably benign
Posted On2015-04-16