Incidental Mutation 'R5729:Pigv'
ID 452646
Institutional Source Beutler Lab
Gene Symbol Pigv
Ensembl Gene ENSMUSG00000043257
Gene Name phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms D430024F16Rik
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.773) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 133387698-133399958 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 133392134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 345 (Y345*)
Ref Sequence ENSEMBL: ENSMUSP00000050647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062118] [ENSMUST00000067902]
AlphaFold Q7TPN3
Predicted Effect probably null
Transcript: ENSMUST00000062118
AA Change: Y345*
SMART Domains Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: Y345*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T 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
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
Predicted Primers PCR Primer
(F):5'- AAAGGTACCTGTCCTCCCTGAC -3'
(R):5'- TGCAGGAGAAAATGCACCC -3'

Sequencing Primer
(F):5'- AGGATCTCCCTGTACCCAC -3'
(R):5'- GGAGAAAATGCACCCCCATGG -3'
Posted On 2017-01-03