Incidental Mutation 'R8494:Gpx3'
ID 658198
Institutional Source Beutler Lab
Gene Symbol Gpx3
Ensembl Gene ENSMUSG00000018339
Gene Name glutathione peroxidase 3
Synonyms extracellular GPx, GPx, EGPx, plasma GPx
MMRRC Submission 067936-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R8494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 54793680-54801213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54793846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 19 (V19I)
Ref Sequence ENSEMBL: ENSMUSP00000119882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082430] [ENSMUST00000125094] [ENSMUST00000149324]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000082430
AA Change: V19I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
AA Change: V19I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:GSHPx 40 153 4.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125094
AA Change: V19I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339
AA Change: V19I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:GSHPx 40 153 1.6e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149324
AA Change: V19I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339
AA Change: V19I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:GSHPx 40 83 1e-13 PFAM
Pfam:GSHPx 99 185 7.3e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted and is highly expressed in mouse kidney, which appears to be the major source of the enzyme in plasma. It has a role in mouse organogenesis, and dysregulation of this isozyme has been associated with obesity-related metabolic complications, platelet-dependent thrombosis, colitis-associated carcinoma, and thermosensitive phenotype. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glutathione peroxidase activity, increase plasma selenium levels when mice are fed a selenium supplemented diet, and reduced kidney selenium levels regardless of selenium supplementation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,327,821 (GRCm39) M1420L probably benign Het
Adamts14 T A 10: 61,038,708 (GRCm39) H934L probably benign Het
Adamtsl1 T C 4: 86,240,221 (GRCm39) C661R probably damaging Het
Akap5 A G 12: 76,376,455 (GRCm39) D629G probably benign Het
Anapc16 A T 10: 59,832,340 (GRCm39) probably benign Het
Ankar T C 1: 72,697,953 (GRCm39) I758V probably benign Het
Apc2 G T 10: 80,150,313 (GRCm39) R1760L probably damaging Het
C1qb T C 4: 136,608,115 (GRCm39) T83A probably benign Het
Canx T A 11: 50,202,609 (GRCm39) probably null Het
Cblb T A 16: 52,025,003 (GRCm39) I966K probably damaging Het
Crocc2 A T 1: 93,144,788 (GRCm39) Q1444L probably damaging Het
Dennd4c C T 4: 86,759,312 (GRCm39) P1781S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah5 A C 15: 28,345,977 (GRCm39) N2439T probably benign Het
Dsg3 T A 18: 20,673,271 (GRCm39) Y981N probably benign Het
Esrp2 C T 8: 106,861,350 (GRCm39) V150M probably damaging Het
Fbxo15 T G 18: 84,982,252 (GRCm39) F235V probably damaging Het
Ffar2 A T 7: 30,519,164 (GRCm39) Y125* probably null Het
Gm1110 T A 9: 26,792,154 (GRCm39) D622V probably benign Het
Gpcpd1 A G 2: 132,386,355 (GRCm39) V341A probably damaging Het
Hadha T C 5: 30,347,810 (GRCm39) I160M probably damaging Het
Igkv3-4 G T 6: 70,649,147 (GRCm39) V49F probably damaging Het
Kcng1 A G 2: 168,105,018 (GRCm39) V276A probably damaging Het
Kif7 A T 7: 79,360,145 (GRCm39) V364D probably benign Het
Kirrel3 A G 9: 34,902,341 (GRCm39) I182V probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mcm9 G A 10: 53,501,856 (GRCm39) T243M possibly damaging Het
Micall1 T C 15: 79,005,080 (GRCm39) L184P probably damaging Het
Mief1 T A 15: 80,133,593 (GRCm39) C217S probably benign Het
Mier2 T C 10: 79,377,546 (GRCm39) D469G probably damaging Het
Mst1r T G 9: 107,791,718 (GRCm39) W799G possibly damaging Het
Mybpc1 C T 10: 88,362,291 (GRCm39) V950I probably benign Het
Neurl4 A G 11: 69,801,871 (GRCm39) D1296G probably benign Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Parg T A 14: 31,930,978 (GRCm39) H199Q probably benign Het
Pcnx3 C A 19: 5,725,404 (GRCm39) D1170Y probably damaging Het
Phactr1 T A 13: 43,250,144 (GRCm39) V487E probably damaging Het
Selp T G 1: 163,957,835 (GRCm39) probably null Het
Smpd3 T C 8: 106,981,982 (GRCm39) E626G probably damaging Het
Syn3 A G 10: 86,190,265 (GRCm39) L188P probably damaging Het
Tle1 T C 4: 72,043,241 (GRCm39) I543V possibly damaging Het
Trp53rkb A G 2: 166,637,779 (GRCm39) *245W probably null Het
Ttc28 A G 5: 111,383,506 (GRCm39) R1336G probably damaging Het
Vps13b T A 15: 35,422,594 (GRCm39) W185R probably damaging Het
Other mutations in Gpx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02125:Gpx3 APN 11 54,798,068 (GRCm39) missense probably damaging 1.00
IGL02600:Gpx3 APN 11 54,800,433 (GRCm39) missense possibly damaging 0.84
R0589:Gpx3 UTSW 11 54,800,329 (GRCm39) missense probably benign 0.00
R0969:Gpx3 UTSW 11 54,799,852 (GRCm39) splice site probably benign
R1344:Gpx3 UTSW 11 54,800,422 (GRCm39) missense probably damaging 0.99
R1418:Gpx3 UTSW 11 54,800,422 (GRCm39) missense probably damaging 0.99
R5105:Gpx3 UTSW 11 54,797,980 (GRCm39) missense possibly damaging 0.82
R5390:Gpx3 UTSW 11 54,800,375 (GRCm39) missense probably damaging 0.98
R6476:Gpx3 UTSW 11 54,798,025 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCCTTTAAATCTTAACCGCG -3'
(R):5'- GGGTTAGTACTGCCCTCTGAAG -3'

Sequencing Primer
(F):5'- AAATCTTAACCGCGTTGCCATTGG -3'
(R):5'- TACTGCCCTCTGAAGCACGC -3'
Posted On 2021-01-18