Incidental Mutation 'R9203:Pigv'
ID 698307
Institutional Source Beutler Lab
Gene Symbol Pigv
Ensembl Gene ENSMUSG00000043257
Gene Name phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms D430024F16Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R9203 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 133387698-133399958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133392990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 60 (L60Q)
Ref Sequence ENSEMBL: ENSMUSP00000050647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062118] [ENSMUST00000067902]
AlphaFold Q7TPN3
Predicted Effect probably damaging
Transcript: ENSMUST00000062118
AA Change: L60Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: L60Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,465,422 (GRCm39) H1686R possibly damaging Het
Ankrd33b A G 15: 31,298,028 (GRCm39) M243T probably benign Het
Appl1 G T 14: 26,682,970 (GRCm39) S104* probably null Het
Appl2 A T 10: 83,476,879 (GRCm39) Y48* probably null Het
Cacna1d T C 14: 29,773,669 (GRCm39) N1694S probably benign Het
Cc2d2a G T 5: 43,891,179 (GRCm39) D1372Y probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cfap54 T G 10: 92,880,990 (GRCm39) M358L probably benign Het
Csnka2ip T A 16: 64,298,630 (GRCm39) D578V unknown Het
Ctns T C 11: 73,082,563 (GRCm39) I56V probably benign Het
Dnah9 A G 11: 65,746,113 (GRCm39) I4000T possibly damaging Het
Dock2 A G 11: 34,622,366 (GRCm39) V91A possibly damaging Het
Dpep2 T C 8: 106,712,885 (GRCm39) H335R probably damaging Het
Eno1 C T 4: 150,332,539 (GRCm39) R400* probably null Het
Fam114a1 C A 5: 65,137,300 (GRCm39) P81H probably damaging Het
Gemin6 A G 17: 80,535,237 (GRCm39) T66A probably benign Het
Grm4 T C 17: 27,653,980 (GRCm39) I657V probably benign Het
H2ac22 T C 13: 21,971,057 (GRCm39) N111S probably benign Het
Has3 T C 8: 107,600,852 (GRCm39) C105R probably damaging Het
Hecw1 T C 13: 14,491,243 (GRCm39) E170G probably benign Het
Hoxd3 T C 2: 74,576,744 (GRCm39) V208A probably damaging Het
Hypk C T 2: 121,288,163 (GRCm39) Q75* probably null Het
Itpkb T A 1: 180,161,004 (GRCm39) W377R probably benign Het
Kbtbd2 A T 6: 56,755,987 (GRCm39) V583E probably damaging Het
Kdm5d A G Y: 940,981 (GRCm39) Y1122C probably damaging Het
Kif7 A C 7: 79,354,472 (GRCm39) L771R probably damaging Het
Krt9 C G 11: 100,079,734 (GRCm39) G553R unknown Het
Lama3 G A 18: 12,595,869 (GRCm39) A933T probably benign Het
Muc16 A G 9: 18,462,984 (GRCm39) I7406T unknown Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Ntng2 G T 2: 29,084,998 (GRCm39) C535* probably null Het
Omg A G 11: 79,393,051 (GRCm39) M269T probably benign Het
Or1x6 A T 11: 50,939,161 (GRCm39) T76S possibly damaging Het
Or52e3 A T 7: 102,869,862 (GRCm39) *312C probably null Het
Parp2 T C 14: 51,056,850 (GRCm39) S325P probably benign Het
Pclo C T 5: 14,728,528 (GRCm39) T2462M unknown Het
Pi4ka G T 16: 17,100,165 (GRCm39) H1912N Het
Piezo2 T C 18: 63,290,302 (GRCm39) I152M probably benign Het
Plcz1 T A 6: 139,953,481 (GRCm39) K379* probably null Het
Poll T C 19: 45,542,091 (GRCm39) N405S probably benign Het
Pou6f2 T A 13: 18,303,615 (GRCm39) I467F Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Psg26 T C 7: 18,212,382 (GRCm39) I324M probably damaging Het
Ptprh T A 7: 4,574,970 (GRCm39) I350F probably damaging Het
Slpi C T 2: 164,196,817 (GRCm39) V126I probably benign Het
Smarca5 C T 8: 81,431,258 (GRCm39) W986* probably null Het
Sorcs1 A G 19: 50,250,733 (GRCm39) I366T probably damaging Het
Sv2c G T 13: 96,224,745 (GRCm39) S188* probably null Het
Sycp2 T C 2: 177,996,906 (GRCm39) K1099R probably damaging Het
Tdp2 C A 13: 25,020,916 (GRCm39) Y178* probably null Het
Trabd2b A G 4: 114,460,122 (GRCm39) E420G probably damaging Het
Uggt2 A T 14: 119,294,975 (GRCm39) H550Q probably benign Het
Vmn2r66 T C 7: 84,654,950 (GRCm39) K453R probably benign Het
Vsig10l A G 7: 43,112,657 (GRCm39) M1V probably null Het
Wdr70 G A 15: 7,902,684 (GRCm39) S646L probably benign Het
Zfp219 A T 14: 52,246,405 (GRCm39) S241T probably damaging Het
Zfp24 G A 18: 24,147,326 (GRCm39) H329Y probably damaging Het
Other mutations in Pigv
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01878:Pigv APN 4 133,392,428 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TACTGAGACCAGCAGGCAAC -3'
(R):5'- TAGTTAGCATTGGCACTCCTTC -3'

Sequencing Primer
(F):5'- AACTGCGCTGGCTCAAGAG -3'
(R):5'- ACAGGCCAACAAGTCTGTTCTTC -3'
Posted On 2022-02-07