Incidental Mutation 'IGL01878:Pigv'
ID 178967
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pigv
Ensembl Gene ENSMUSG00000043257
Gene Name phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms D430024F16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # IGL01878
Quality Score
Status
Chromosome 4
Chromosomal Location 133387698-133399958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133392428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 247 (I247M)
Ref Sequence ENSEMBL: ENSMUSP00000050647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062118] [ENSMUST00000067902]
AlphaFold Q7TPN3
Predicted Effect probably benign
Transcript: ENSMUST00000062118
AA Change: I247M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: I247M

DomainStartEndE-ValueType
Pfam:Mannosyl_trans2 8 493 6.4e-180 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067902
SMART Domains Protein: ENSMUSP00000065601
Gene: ENSMUSG00000043257

DomainStartEndE-ValueType
Pfam:Mannosyl_trans2 10 119 2.7e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151837
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 encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complex congenital heart disease associated with heterotaxy, are runted, have thymus hypoplasia and show craniofacial and kidney defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox8 G T 11: 69,087,864 (GRCm39) Q147K probably benign Het
Ankib1 T A 5: 3,784,152 (GRCm39) M275L possibly damaging Het
Asb2 G A 12: 103,287,922 (GRCm39) P546S possibly damaging Het
B9d1 T C 11: 61,398,449 (GRCm39) probably benign Het
Col12a1 T C 9: 79,557,257 (GRCm39) D1957G possibly damaging Het
Cryzl2 T C 1: 157,299,970 (GRCm39) V44A possibly damaging Het
Fbxw19 A C 9: 109,312,347 (GRCm39) probably benign Het
Gabrb3 T C 7: 57,466,163 (GRCm39) F326L probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11168 T C 9: 3,005,204 (GRCm39) C16R probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm7808 T A 9: 19,839,542 (GRCm39) probably benign Het
Gpam T C 19: 55,071,806 (GRCm39) I312V probably benign Het
H2-M10.5 A G 17: 37,084,708 (GRCm39) Y144C probably damaging Het
Hivep3 T C 4: 119,952,424 (GRCm39) S247P possibly damaging Het
Hs3st4 T G 7: 123,996,536 (GRCm39) C401G probably damaging Het
Klhl2 A G 8: 65,212,858 (GRCm39) V227A probably damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Lipm T A 19: 34,093,911 (GRCm39) L276Q possibly damaging Het
Lmf2 T A 15: 89,236,621 (GRCm39) H515L probably damaging Het
Mccc1 G A 3: 36,030,041 (GRCm39) S423L probably damaging Het
Mettl21e G A 1: 44,250,193 (GRCm39) S71L probably null Het
Muc16 T A 9: 18,406,839 (GRCm39) H251L possibly damaging Het
Neb T C 2: 52,059,852 (GRCm39) probably benign Het
Ntf5 T C 7: 45,065,450 (GRCm39) I194T probably damaging Het
Or10ag58 T C 2: 87,265,314 (GRCm39) I161T possibly damaging Het
Or1o4 A G 17: 37,590,891 (GRCm39) V140A possibly damaging Het
Or2w6 T C 13: 21,842,953 (GRCm39) D180G possibly damaging Het
Or4x11 T C 2: 89,867,478 (GRCm39) S72P probably damaging Het
Or9m1 A T 2: 87,733,675 (GRCm39) L115* probably null Het
Pik3r5 A G 11: 68,383,356 (GRCm39) N392D probably benign Het
Postn A G 3: 54,290,901 (GRCm39) probably null Het
Prl2c5 G A 13: 13,360,402 (GRCm39) S23N probably benign Het
Prpf40b T C 15: 99,204,413 (GRCm39) C220R possibly damaging Het
Pzp A G 6: 128,472,261 (GRCm39) S843P probably damaging Het
Rpl23 C A 11: 97,669,177 (GRCm39) R85L probably benign Het
Shcbp1 A G 8: 4,799,721 (GRCm39) S252P probably damaging Het
Slc26a7 C T 4: 14,519,388 (GRCm39) probably null Het
Sptbn4 T C 7: 27,063,571 (GRCm39) E2285G probably damaging Het
Telo2 G T 17: 25,320,332 (GRCm39) T784K probably benign Het
Tnfrsf19 C T 14: 61,234,093 (GRCm39) V136M probably damaging Het
Trpm5 T A 7: 142,628,234 (GRCm39) I22F probably damaging Het
Trpv6 G T 6: 41,603,801 (GRCm39) probably benign Het
Vmn1r173 T G 7: 23,401,877 (GRCm39) H37Q probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo6 T A 7: 125,773,365 (GRCm39) H20L probably benign Het
Zfp462 T C 4: 55,010,613 (GRCm39) Y860H probably damaging Het
Other mutations in Pigv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03157:Pigv APN 4 133,392,841 (GRCm39) missense probably benign 0.01
R0256:Pigv UTSW 4 133,393,062 (GRCm39) missense probably damaging 1.00
R0925:Pigv UTSW 4 133,389,960 (GRCm39) missense probably benign 0.05
R1733:Pigv UTSW 4 133,392,237 (GRCm39) missense probably damaging 1.00
R2014:Pigv UTSW 4 133,390,034 (GRCm39) missense possibly damaging 0.55
R3794:Pigv UTSW 4 133,392,502 (GRCm39) missense possibly damaging 0.94
R3795:Pigv UTSW 4 133,392,502 (GRCm39) missense possibly damaging 0.94
R4349:Pigv UTSW 4 133,392,127 (GRCm39) missense probably benign
R5729:Pigv UTSW 4 133,392,134 (GRCm39) nonsense probably null
R6014:Pigv UTSW 4 133,392,740 (GRCm39) missense probably benign 0.00
R6343:Pigv UTSW 4 133,392,547 (GRCm39) missense probably damaging 1.00
R6885:Pigv UTSW 4 133,392,792 (GRCm39) missense probably damaging 0.99
R7638:Pigv UTSW 4 133,392,762 (GRCm39) missense possibly damaging 0.46
R8720:Pigv UTSW 4 133,392,968 (GRCm39) missense probably damaging 1.00
R9112:Pigv UTSW 4 133,392,079 (GRCm39) missense probably benign
R9203:Pigv UTSW 4 133,392,990 (GRCm39) missense probably damaging 1.00
R9262:Pigv UTSW 4 133,397,110 (GRCm39) missense possibly damaging 0.84
R9282:Pigv UTSW 4 133,391,973 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07