Incidental Mutation 'R5900:Gpx2'
ID 456287
Institutional Source Beutler Lab
Gene Symbol Gpx2
Ensembl Gene ENSMUSG00000042808
Gene Name glutathione peroxidase 2
Synonyms intestinal GPx, GPx-GI, GI-GPx
MMRRC Submission 044099-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R5900 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76839107-76842273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76839653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 115 (V115A)
Ref Sequence ENSEMBL: ENSMUSP00000081012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082431] [ENSMUST00000125842] [ENSMUST00000137826]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000082431
AA Change: V115A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081012
Gene: ENSMUSG00000042808
AA Change: V115A

DomainStartEndE-ValueType
Pfam:GSHPx 8 120 9.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125842
SMART Domains Protein: ENSMUSP00000116906
Gene: ENSMUSG00000033373

DomainStartEndE-ValueType
Pfam:Churchill 1 65 2.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137826
SMART Domains Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373

DomainStartEndE-ValueType
Pfam:Churchill 1 92 1.9e-42 PFAM
Pfam:Prenyltrans 157 198 5.1e-16 PFAM
Pfam:Prenyltrans 206 249 2.8e-13 PFAM
Pfam:Prenyltrans 255 297 1e-14 PFAM
Pfam:Prenyltrans 302 346 1.6e-12 PFAM
Pfam:Prenyltrans 364 408 1.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221421
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.9%
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 predominantly expressed in the gastrointestinal tract in rodents, is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Knockout studies in mice lacking this gene suggest a role for this isozyme in intestinal inflammation and colon cancer development. 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. A pseudogene of this gene has been identified on chromosome 7. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null allele appear normal, but double knockouts with Gpx1 exhibit symptoms of inflammatory bowel disease, including perianal ulceration, growth retardation, and hypothermia, a condition that is sometimes fatal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,169,982 (GRCm39) T1341S possibly damaging Het
Abcc12 T C 8: 87,293,149 (GRCm39) D13G possibly damaging Het
Adam24 T C 8: 41,134,071 (GRCm39) V513A probably benign Het
Adgrg6 C T 10: 14,314,163 (GRCm39) probably null Het
Ankrd11 T C 8: 123,617,805 (GRCm39) T1995A probably benign Het
Apoh G T 11: 108,302,843 (GRCm39) K269N probably damaging Het
Bahcc1 C T 11: 120,175,319 (GRCm39) L1798F probably damaging Het
Brca2 T A 5: 150,464,597 (GRCm39) C1454S probably benign Het
Clip2 T C 5: 134,531,633 (GRCm39) D689G possibly damaging Het
Cpa5 T C 6: 30,615,115 (GRCm39) V84A probably damaging Het
Ctsh T C 9: 89,946,621 (GRCm39) I116T probably damaging Het
Dlg5 T A 14: 24,199,515 (GRCm39) E1463V probably damaging Het
Dnah11 C T 12: 118,046,166 (GRCm39) probably null Het
Dstyk G A 1: 132,384,717 (GRCm39) R737Q probably damaging Het
Galr1 A G 18: 82,411,982 (GRCm39) S295P probably damaging Het
Hhipl2 A G 1: 183,207,597 (GRCm39) I219V possibly damaging Het
Hkdc1 T C 10: 62,244,445 (GRCm39) M214V possibly damaging Het
Lrfn2 T C 17: 49,377,291 (GRCm39) V124A possibly damaging Het
Lrrcc1 T G 3: 14,627,186 (GRCm39) S704R possibly damaging Het
Marveld2 T C 13: 100,748,176 (GRCm39) Y301C probably damaging Het
Mcpt8 T C 14: 56,319,740 (GRCm39) I237V probably damaging Het
Mtus1 A T 8: 41,536,534 (GRCm39) V394D possibly damaging Het
Ncapd3 T A 9: 26,978,265 (GRCm39) D821E probably benign Het
Pcdh9 T C 14: 93,564,156 (GRCm39) D1058G probably damaging Het
Pld2 G A 11: 70,446,888 (GRCm39) probably null Het
Prdm2 A G 4: 142,861,290 (GRCm39) S667P probably damaging Het
Ptgdr2 A T 19: 10,918,352 (GRCm39) probably null Het
Rfx7 C T 9: 72,524,538 (GRCm39) T576I probably benign Het
Safb T C 17: 56,907,349 (GRCm39) C426R unknown Het
Serpina9 G A 12: 103,975,130 (GRCm39) R8* probably null Het
Shank3 G A 15: 89,387,593 (GRCm39) R254Q probably damaging Het
Simc1 T C 13: 54,694,837 (GRCm39) V306A probably damaging Het
Srfbp1 A G 18: 52,621,853 (GRCm39) T305A probably benign Het
Tdrd5 A T 1: 156,105,005 (GRCm39) C463* probably null Het
Tmem132d A T 5: 128,346,336 (GRCm39) L62Q probably damaging Het
Trank1 T A 9: 111,220,784 (GRCm39) L2507H probably damaging Het
Usp45 T C 4: 21,830,451 (GRCm39) V702A probably damaging Het
Wnk2 A G 13: 49,256,308 (GRCm39) I271T probably damaging Het
Zfp292 A T 4: 34,805,125 (GRCm39) L2640I probably damaging Het
Znrf3 G T 11: 5,232,110 (GRCm39) H468N probably damaging Het
Other mutations in Gpx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Gpx2 APN 12 76,839,682 (GRCm39) nonsense probably null
R0377:Gpx2 UTSW 12 76,841,930 (GRCm39) nonsense probably null
R0646:Gpx2 UTSW 12 76,842,087 (GRCm39) missense probably benign 0.04
R4937:Gpx2 UTSW 12 76,839,574 (GRCm39) missense probably benign
R6197:Gpx2 UTSW 12 76,842,068 (GRCm39) missense probably damaging 1.00
R6620:Gpx2 UTSW 12 76,839,674 (GRCm39) missense possibly damaging 0.94
R9013:Gpx2 UTSW 12 76,842,118 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCAACTTTGAGGAGCCG -3'
(R):5'- GGTGCACCCTGGGTTTCTTC -3'

Sequencing Primer
(F):5'- AGCCGTTTGATGTCAGGCTC -3'
(R):5'- GGGTTTCTTCTCCCTTTCTTCATG -3'
Posted On 2017-02-15