Incidental Mutation 'V7581:Glrx3'
ID 152558
Institutional Source Beutler Lab
Gene Symbol Glrx3
Ensembl Gene ENSMUSG00000031068
Gene Name glutaredoxin 3
Synonyms PICOT, Txnl2, PKC interacting cousin of thioredoxin
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # V7581 () of strain stinger
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 137039343-137070323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137060882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 172 (H172R)
Ref Sequence ENSEMBL: ENSMUSP00000147803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064404] [ENSMUST00000209696] [ENSMUST00000211496] [ENSMUST00000211769]
AlphaFold Q9CQM9
Predicted Effect probably benign
Transcript: ENSMUST00000064404
AA Change: H172R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066621
Gene: ENSMUSG00000031068
AA Change: H172R

DomainStartEndE-ValueType
Pfam:Phosducin 6 102 6.3e-10 PFAM
Pfam:DIM1 13 112 4.5e-9 PFAM
Pfam:Thioredoxin 15 117 1.2e-21 PFAM
Pfam:Glutaredoxin 148 212 2.9e-19 PFAM
Pfam:Glutaredoxin 250 314 1.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209696
Predicted Effect probably benign
Transcript: ENSMUST00000211496
AA Change: H172R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211769
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality during late organogenesis and early fetal development. Mice heterozygous for this gene trapped allele exhibit increased response to cardiac injury and decreased cardiac muscle contractility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik A T 4: 122,595,050 (GRCm39) H102L possibly damaging Het
Abcb10 GGCCATCG GG 8: 124,696,500 (GRCm39) probably benign Het
Atp6v1h A G 1: 5,194,666 (GRCm39) T282A possibly damaging Het
Clasp1 G A 1: 118,509,078 (GRCm39) R1027Q probably damaging Het
D630003M21Rik T C 2: 158,042,931 (GRCm39) T870A probably benign Het
Dnah12 T A 14: 26,495,050 (GRCm39) N1369K possibly damaging Het
Dnajc22 T A 15: 98,999,363 (GRCm39) Y183N probably damaging Het
Dpyd C T 3: 118,690,775 (GRCm39) Q295* probably null Het
Dync2i1 A C 12: 116,175,460 (GRCm39) S906A possibly damaging Het
Erv3 T C 2: 131,697,846 (GRCm39) H171R possibly damaging Het
Fam221b T C 4: 43,665,865 (GRCm39) T249A probably benign Het
Fcgr1 T C 3: 96,191,592 (GRCm39) *405W probably null Het
Gm10770 T A 2: 150,021,404 (GRCm39) K38* probably null Het
Gm4787 G A 12: 81,424,341 (GRCm39) Q606* probably null Het
Hira G A 16: 18,713,571 (GRCm39) A29T probably damaging Het
Hnrnpab A T 11: 51,493,451 (GRCm39) N252K probably benign Het
Izumo4 A T 10: 80,539,725 (GRCm39) T155S probably benign Het
Kcnb2 A G 1: 15,780,315 (GRCm39) I396V probably benign Het
Klc1 A T 12: 111,741,006 (GRCm39) I161F probably benign Het
Lpar5 C A 6: 125,058,690 (GRCm39) A137E possibly damaging Het
Lrp4 C T 2: 91,318,863 (GRCm39) S900L possibly damaging Het
Muc6 T G 7: 141,233,880 (GRCm39) E808A probably benign Het
Or10j7 G T 1: 173,011,531 (GRCm39) L157I probably benign Het
Or5p57 G T 7: 107,665,885 (GRCm39) T40K probably benign Het
Otop3 T A 11: 115,235,664 (GRCm39) L432Q probably damaging Het
Papln C T 12: 83,825,608 (GRCm39) R608C possibly damaging Het
Pelp1 T A 11: 70,288,976 (GRCm39) T257S probably damaging Het
Pik3cd A C 4: 149,741,776 (GRCm39) L390R probably damaging Het
Ppwd1 A G 13: 104,356,745 (GRCm39) Y257H probably damaging Het
Prkcb G T 7: 122,127,699 (GRCm39) W274C probably damaging Het
Rbbp8nl T A 2: 179,920,001 (GRCm39) T558S probably benign Het
Recql4 T C 15: 76,590,369 (GRCm39) D705G possibly damaging Het
Slc30a4 T A 2: 122,531,458 (GRCm39) M136L probably benign Het
Slc5a6 C T 5: 31,199,957 (GRCm39) probably null Het
Spaca1 T C 4: 34,039,311 (GRCm39) E192G probably damaging Het
Spata31 C A 13: 65,069,462 (GRCm39) P537T probably benign Het
Tmc3 T C 7: 83,271,713 (GRCm39) V955A probably benign Het
Tnrc6c G A 11: 117,614,152 (GRCm39) R770H probably damaging Het
Toe1 A T 4: 116,663,308 (GRCm39) N56K probably damaging Het
Tprkb A G 6: 85,905,764 (GRCm39) K150E probably damaging Het
Trps1 T C 15: 50,694,973 (GRCm39) K150E probably damaging Het
Tspyl3 A G 2: 153,066,980 (GRCm39) V86A probably benign Het
Vmn2r68 C T 7: 84,871,088 (GRCm39) V732I probably benign Het
Zfp292 C T 4: 34,806,783 (GRCm39) C2087Y possibly damaging Het
Zfp933 G A 4: 147,910,927 (GRCm39) A223V probably damaging Het
Zmynd8 G A 2: 165,654,314 (GRCm39) R724* probably null Het
Other mutations in Glrx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00678:Glrx3 APN 7 137,054,442 (GRCm39) missense probably damaging 1.00
IGL02435:Glrx3 APN 7 137,063,125 (GRCm39) missense possibly damaging 0.61
F5770:Glrx3 UTSW 7 137,060,882 (GRCm39) missense probably benign
R0347:Glrx3 UTSW 7 137,039,430 (GRCm39) missense unknown
R0359:Glrx3 UTSW 7 137,055,214 (GRCm39) missense possibly damaging 0.80
R1270:Glrx3 UTSW 7 137,055,143 (GRCm39) missense probably benign 0.02
R3692:Glrx3 UTSW 7 137,060,846 (GRCm39) splice site probably benign
R4909:Glrx3 UTSW 7 137,046,765 (GRCm39) missense probably damaging 1.00
R4920:Glrx3 UTSW 7 137,065,859 (GRCm39) missense probably null 1.00
R5509:Glrx3 UTSW 7 137,046,751 (GRCm39) missense probably damaging 1.00
R6831:Glrx3 UTSW 7 137,060,951 (GRCm39) missense possibly damaging 0.76
R7200:Glrx3 UTSW 7 137,066,165 (GRCm39) missense possibly damaging 0.81
R7347:Glrx3 UTSW 7 137,061,015 (GRCm39) missense possibly damaging 0.83
R7356:Glrx3 UTSW 7 137,054,453 (GRCm39) missense probably damaging 0.98
R7481:Glrx3 UTSW 7 137,046,751 (GRCm39) missense probably damaging 1.00
R7660:Glrx3 UTSW 7 137,060,954 (GRCm39) missense probably damaging 1.00
R7685:Glrx3 UTSW 7 137,060,920 (GRCm39) missense probably damaging 0.98
R8147:Glrx3 UTSW 7 137,064,736 (GRCm39) missense probably benign 0.00
R9627:Glrx3 UTSW 7 137,046,755 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCCCTGGACAATGGGTGGTAATC -3'
(R):5'- CACTGTGCGACACTGACAAACG -3'

Sequencing Primer
(F):5'- ACAATGGGTGGTAATCACTGTG -3'
(R):5'- AGGAAAGTGTGCTCTGAACTGTC -3'
Posted On 2014-01-29