Incidental Mutation 'R4937:Gpx2'
ID 380511
Institutional Source Beutler Lab
Gene Symbol Gpx2
Ensembl Gene ENSMUSG00000042808
Gene Name glutathione peroxidase 2
Synonyms intestinal GPx, GPx-GI, GI-GPx
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # R4937 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76839107-76842273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76839574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 141 (I141M)
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 benign
Transcript: ENSMUST00000082431
AA Change: I141M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081012
Gene: ENSMUSG00000042808
AA Change: I141M

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.3%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,067 (GRCm39) F597S probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca16 G T 7: 120,126,309 (GRCm39) C1155F probably damaging Het
Adam26a T C 8: 44,021,918 (GRCm39) D524G probably damaging Het
Adamts20 G C 15: 94,277,656 (GRCm39) H269D probably benign Het
Akap9 T A 5: 4,100,145 (GRCm39) probably null Het
Akt3 T C 1: 176,877,693 (GRCm39) I358M possibly damaging Het
Aldh9a1 G T 1: 167,189,376 (GRCm39) A375S probably damaging Het
Alg2 A G 4: 47,473,974 (GRCm39) S105P probably benign Het
Amph A G 13: 19,288,515 (GRCm39) T335A probably damaging Het
Ank2 C T 3: 126,756,050 (GRCm39) V1056M probably damaging Het
Apoh A G 11: 108,298,204 (GRCm39) D168G probably benign Het
Arfgef3 C T 10: 18,465,454 (GRCm39) A2130T probably damaging Het
Arhgap30 A G 1: 171,230,897 (GRCm39) D218G probably benign Het
Ascc3 C T 10: 50,699,894 (GRCm39) P1906S probably damaging Het
Atp11b T G 3: 35,861,157 (GRCm39) probably null Het
B4galnt2 A G 11: 95,759,255 (GRCm39) V343A probably damaging Het
Barhl1 T C 2: 28,799,785 (GRCm39) Y280C probably damaging Het
Bcar1 A T 8: 112,447,669 (GRCm39) Y103N probably damaging Het
Bid A G 6: 120,872,707 (GRCm39) I150T probably benign Het
Ccdc171 T C 4: 83,467,876 (GRCm39) S74P probably damaging Het
Ccni A T 5: 93,336,113 (GRCm39) probably null Het
Cct8l1 A G 5: 25,721,891 (GRCm39) E202G probably benign Het
Cd200r3 A G 16: 44,774,622 (GRCm39) K212E probably benign Het
Cdh19 A G 1: 110,817,694 (GRCm39) S683P probably damaging Het
Ces2b A T 8: 105,559,413 (GRCm39) H93L probably benign Het
Cimip2b T A 4: 43,427,514 (GRCm39) Q270L possibly damaging Het
Clec4a1 G A 6: 122,907,654 (GRCm39) C114Y probably damaging Het
Dcc G T 18: 71,675,320 (GRCm39) S636* probably null Het
Dcdc2c T C 12: 28,580,472 (GRCm39) D187G possibly damaging Het
Dgkb G T 12: 38,164,657 (GRCm39) E150* probably null Het
Dhx30 A G 9: 109,915,029 (GRCm39) L884P probably damaging Het
Dmwd T G 7: 18,815,228 (GRCm39) probably null Het
Dnah17 T A 11: 117,932,980 (GRCm39) N3593Y probably damaging Het
Dnm2 G A 9: 21,392,633 (GRCm39) S447N probably benign Het
Elk4 G A 1: 131,945,419 (GRCm39) G99D probably damaging Het
Entpd1 A T 19: 40,727,965 (GRCm39) probably benign Het
Fam114a1 T A 5: 65,137,070 (GRCm39) D4E probably damaging Het
Fbln2 A G 6: 91,241,681 (GRCm39) D754G probably damaging Het
Fhip2a T C 19: 57,367,069 (GRCm39) V204A probably benign Het
Foxred2 T C 15: 77,840,035 (GRCm39) N85S probably damaging Het
Fut9 A G 4: 25,799,591 (GRCm39) probably benign Het
Gm1818 G A 12: 48,606,607 (GRCm39) noncoding transcript Het
Gm4894 C A 9: 49,190,000 (GRCm39) Q92K unknown Het
Gusb T C 5: 130,024,326 (GRCm39) T476A probably damaging Het
Hmmr G A 11: 40,612,667 (GRCm39) T180I possibly damaging Het
Itgbl1 T C 14: 124,210,780 (GRCm39) Y493H probably benign Het
Klhdc9 G T 1: 171,187,951 (GRCm39) C93* probably null Het
Ldaf1 T C 7: 119,715,535 (GRCm39) S120P probably damaging Het
Lpar3 A G 3: 145,990,506 (GRCm39) K275E probably damaging Het
Lrp1b A G 2: 40,692,897 (GRCm39) probably null Het
Lrrc63 C T 14: 75,322,389 (GRCm39) G572S probably damaging Het
Mapk11 A T 15: 89,030,685 (GRCm39) D98E probably benign Het
Mgat4f T A 1: 134,317,714 (GRCm39) M162K probably benign Het
Net1 G A 13: 3,934,905 (GRCm39) R374W probably damaging Het
Nlrp4g T A 9: 124,354,005 (GRCm38) noncoding transcript Het
Nrap T A 19: 56,335,652 (GRCm39) Y923F probably damaging Het
Or13a20 T A 7: 140,232,534 (GRCm39) M214K probably benign Het
Or4c108 T A 2: 88,803,834 (GRCm39) I134F probably damaging Het
Or6c215 A T 10: 129,637,932 (GRCm39) V154E probably benign Het
Plxnc1 A G 10: 94,677,335 (GRCm39) V964A probably damaging Het
Pmfbp1 A G 8: 110,262,498 (GRCm39) I731V probably benign Het
Polq T A 16: 36,848,274 (GRCm39) S294T probably benign Het
Pomgnt2 T C 9: 121,811,620 (GRCm39) D387G probably benign Het
Pramel25 T C 4: 143,520,407 (GRCm39) V53A possibly damaging Het
Prmt2 G A 10: 76,056,842 (GRCm39) T227I probably damaging Het
Psmd1 T A 1: 86,010,947 (GRCm39) F341I probably damaging Het
Ptpn23 T C 9: 110,221,806 (GRCm39) M127V probably benign Het
Ptprc A G 1: 138,017,238 (GRCm39) F483L probably damaging Het
Rab35 A C 5: 115,778,147 (GRCm39) I38L probably damaging Het
Rapgef6 A G 11: 54,548,143 (GRCm39) T486A probably damaging Het
Rgl3 A T 9: 21,899,004 (GRCm39) C68* probably null Het
Rilpl1 T C 5: 124,653,594 (GRCm39) E189G possibly damaging Het
Rnf217 T C 10: 31,393,520 (GRCm39) I354V probably benign Het
Rspo3 T C 10: 29,382,524 (GRCm39) D50G probably damaging Het
Sbno1 A G 5: 124,512,672 (GRCm39) S1366P possibly damaging Het
Sema3c A G 5: 17,899,684 (GRCm39) D392G probably benign Het
Serpinb9e A T 13: 33,436,935 (GRCm39) Y85F probably benign Het
Shprh C T 10: 11,032,863 (GRCm39) T283I probably benign Het
Sipa1l1 T C 12: 82,388,103 (GRCm39) S110P probably benign Het
Slc16a12 T A 19: 34,652,643 (GRCm39) I168F probably damaging Het
Slc23a3 A G 1: 75,109,268 (GRCm39) S221P probably damaging Het
Slc35b3 A T 13: 39,116,887 (GRCm39) I366K possibly damaging Het
Slc44a5 T C 3: 153,949,252 (GRCm39) probably null Het
Slc5a12 A T 2: 110,450,753 (GRCm39) D316V probably damaging Het
Ssr3 A G 3: 65,299,874 (GRCm39) S29P probably damaging Het
Taf2 G A 15: 54,890,619 (GRCm39) Q1055* probably null Het
Them6 A T 15: 74,593,367 (GRCm39) D75V probably damaging Het
Tom1l2 A G 11: 60,149,744 (GRCm39) S239P probably damaging Het
Tspear A G 10: 77,710,877 (GRCm39) T500A probably damaging Het
Tubgcp6 G A 15: 88,985,752 (GRCm39) A1487V probably damaging Het
Uba7 G A 9: 107,856,190 (GRCm39) V522I possibly damaging Het
Virma C A 4: 11,521,147 (GRCm39) C901* probably null Het
Vmn1r172 A T 7: 23,359,312 (GRCm39) I66F possibly damaging Het
Vmn2r82 A T 10: 79,215,010 (GRCm39) Y331F probably benign Het
Wdr55 G A 18: 36,895,451 (GRCm39) V143I probably benign Het
Zbtb49 A T 5: 38,371,307 (GRCm39) D191E possibly damaging Het
Zfhx4 A G 3: 5,307,071 (GRCm39) H99R probably damaging Het
Zfp1005 C T 2: 150,110,680 (GRCm39) H457Y unknown Het
Zfp560 C T 9: 20,259,263 (GRCm39) C533Y probably damaging Het
Zfp646 C T 7: 127,478,354 (GRCm39) A177V probably benign Het
Zfp653 C T 9: 21,967,074 (GRCm39) E604K 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
R5900:Gpx2 UTSW 12 76,839,653 (GRCm39) missense probably damaging 1.00
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'- TACACTGAGCCCTGAGGAAG -3'
(R):5'- GGAGATCCTGAACAGCCTCAAG -3'

Sequencing Primer
(F):5'- AGCCCTGAGGAAGACTGCTC -3'
(R):5'- TGAACAGCCTCAAGTATGTCCG -3'
Posted On 2016-04-15