Incidental Mutation 'IGL01351:Gpx5'
ID 75369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpx5
Ensembl Gene ENSMUSG00000004344
Gene Name glutathione peroxidase 5
Synonyms Arep
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01351
Quality Score
Status
Chromosome 13
Chromosomal Location 21470599-21476897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21471669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 178 (D178G)
Ref Sequence ENSEMBL: ENSMUSP00000106117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110491]
AlphaFold P21765
Predicted Effect probably damaging
Transcript: ENSMUST00000004456
AA Change: D178G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004456
Gene: ENSMUSG00000004344
AA Change: D178G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:GSHPx 40 153 8e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110491
AA Change: D178G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106117
Gene: ENSMUSG00000004344
AA Change: D178G

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:GSHPx 56 169 3.4e-45 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit age-dependent reduced fertility due to increased sensitivity of sperm DNA to oxidative attack. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,217,565 (GRCm39) S336P probably benign Het
Abca9 T C 11: 110,039,729 (GRCm39) Y428C probably damaging Het
Alpk1 T C 3: 127,466,011 (GRCm39) Q1165R probably damaging Het
Angel2 C A 1: 190,665,310 (GRCm39) N80K probably benign Het
Bmp6 T C 13: 38,653,610 (GRCm39) S226P probably damaging Het
Ccar2 T C 14: 70,383,311 (GRCm39) T229A probably benign Het
Cdh12 G A 15: 21,237,989 (GRCm39) V75M probably damaging Het
Cdh6 G T 15: 13,034,326 (GRCm39) A778E possibly damaging Het
Corin A T 5: 72,496,334 (GRCm39) C540S probably damaging Het
Cyfip1 C A 7: 55,547,991 (GRCm39) Y530* probably null Het
Dock10 T G 1: 80,570,876 (GRCm39) K327N probably damaging Het
Dpy19l3 A G 7: 35,426,840 (GRCm39) probably benign Het
E2f8 T C 7: 48,516,899 (GRCm39) T827A probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Fam170a T C 18: 50,414,845 (GRCm39) W164R probably benign Het
Fbxw14 T C 9: 109,103,640 (GRCm39) D24G possibly damaging Het
Gnmt T C 17: 47,037,606 (GRCm39) D124G probably benign Het
Gsdmd T A 15: 75,736,186 (GRCm39) I105N probably damaging Het
Hps5 C T 7: 46,410,856 (GRCm39) M1113I probably damaging Het
Hyal6 T C 6: 24,734,178 (GRCm39) F37S probably damaging Het
Il17c C T 8: 123,148,862 (GRCm39) T2I probably benign Het
Lyz1 A G 10: 117,127,093 (GRCm39) C48R probably damaging Het
Or52e18 T A 7: 104,609,946 (GRCm39) probably benign Het
Pafah1b3 G A 7: 24,994,570 (GRCm39) R215C possibly damaging Het
Psmb4 A T 3: 94,793,538 (GRCm39) probably null Het
Rnf213 T C 11: 119,373,944 (GRCm39) V5009A probably benign Het
Sema6a T C 18: 47,414,369 (GRCm39) K494E possibly damaging Het
Sfmbt1 T C 14: 30,491,777 (GRCm39) V17A probably benign Het
Speg T A 1: 75,387,920 (GRCm39) probably benign Het
Spint1 A G 2: 119,076,936 (GRCm39) D340G probably damaging Het
Tasor A G 14: 27,186,258 (GRCm39) E819G probably benign Het
Tctn3 T C 19: 40,596,081 (GRCm39) I309V probably benign Het
Tex19.1 T A 11: 121,038,072 (GRCm39) D143E probably damaging Het
Tktl2 A G 8: 66,965,548 (GRCm39) I369V probably benign Het
Tm2d2 A G 8: 25,510,573 (GRCm39) probably benign Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Zfhx4 A G 3: 5,466,196 (GRCm39) Y2118C probably damaging Het
Zmynd15 C A 11: 70,354,416 (GRCm39) N425K probably benign Het
Other mutations in Gpx5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0233:Gpx5 UTSW 13 21,471,573 (GRCm39) missense probably damaging 1.00
R0233:Gpx5 UTSW 13 21,471,573 (GRCm39) missense probably damaging 1.00
R1836:Gpx5 UTSW 13 21,471,624 (GRCm39) missense probably benign
R2356:Gpx5 UTSW 13 21,475,538 (GRCm39) missense possibly damaging 0.92
R2495:Gpx5 UTSW 13 21,475,610 (GRCm39) missense probably benign 0.24
R5023:Gpx5 UTSW 13 21,472,915 (GRCm39) missense probably damaging 0.97
R5078:Gpx5 UTSW 13 21,472,881 (GRCm39) missense probably damaging 1.00
R5479:Gpx5 UTSW 13 21,476,805 (GRCm39) missense probably benign
R6166:Gpx5 UTSW 13 21,473,435 (GRCm39) missense probably damaging 1.00
R6370:Gpx5 UTSW 13 21,472,872 (GRCm39) critical splice donor site probably null
R6989:Gpx5 UTSW 13 21,471,669 (GRCm39) missense probably damaging 1.00
R7017:Gpx5 UTSW 13 21,475,561 (GRCm39) missense probably damaging 1.00
R7891:Gpx5 UTSW 13 21,472,918 (GRCm39) missense probably damaging 1.00
R8155:Gpx5 UTSW 13 21,472,917 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07