Incidental Mutation 'R6014:Pigv'
ID 479902
Institutional Source Beutler Lab
Gene Symbol Pigv
Ensembl Gene ENSMUSG00000043257
Gene Name phosphatidylinositol glycan anchor biosynthesis, class V
Synonyms D430024F16Rik
MMRRC Submission 044190-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # R6014 (G1)
Quality Score 208.009
Status Validated
Chromosome 4
Chromosomal Location 133387698-133399958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133392740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 143 (H143Q)
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: H143Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000050647
Gene: ENSMUSG00000043257
AA Change: H143Q

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 0.0602 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (67/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,244,881 (GRCm39) M157K probably benign Het
A2ml1 C T 6: 128,548,948 (GRCm39) C278Y probably damaging Het
Abcc2 A T 19: 43,815,174 (GRCm39) Q1187L probably benign Het
Adcy9 A T 16: 4,236,683 (GRCm39) Y6N probably damaging Het
Adh1 T C 3: 137,992,559 (GRCm39) I225T probably benign Het
Akap11 A T 14: 78,749,939 (GRCm39) I816K probably benign Het
Ap1b1 T A 11: 4,969,364 (GRCm39) M240K possibly damaging Het
Apex1 A T 14: 51,162,982 (GRCm39) T17S probably benign Het
Arhgap21 C T 2: 20,886,616 (GRCm39) G26D probably damaging Het
Bahcc1 A G 11: 120,180,615 (GRCm39) Y2613C probably benign Het
Baz1b C T 5: 135,246,248 (GRCm39) R566W probably damaging Het
Casp8ap2 A T 4: 32,641,400 (GRCm39) Y818F probably damaging Het
Col3a1 T A 1: 45,360,739 (GRCm39) C56* probably null Het
Coro2a G A 4: 46,542,261 (GRCm39) P371S probably damaging Het
Cyp2a22 T A 7: 26,638,605 (GRCm39) probably null Het
Dpysl3 T A 18: 43,494,132 (GRCm39) I183F probably damaging Het
Drc1 A T 5: 30,502,993 (GRCm39) N172I probably damaging Het
Dst T C 1: 34,303,915 (GRCm39) Y1378H probably damaging Het
Dync2i2 C T 2: 29,921,763 (GRCm39) A533T probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Epb41l3 A T 17: 69,590,955 (GRCm39) T91S probably damaging Het
Exoc4 T C 6: 33,452,932 (GRCm39) V474A probably benign Het
Fam229b G A 10: 38,994,989 (GRCm39) T56I probably damaging Het
Gfm2 A G 13: 97,288,169 (GRCm39) probably null Het
Git2 C T 5: 114,871,938 (GRCm39) E152K probably benign Het
Golt1b T A 6: 142,341,943 (GRCm39) I109N probably damaging Het
Grid2ip T A 5: 143,373,578 (GRCm39) M783K possibly damaging Het
Inpp5a A G 7: 139,154,898 (GRCm39) Y339C probably damaging Het
Isoc2a T C 7: 4,894,625 (GRCm39) S103P probably damaging Het
Itih4 C A 14: 30,614,586 (GRCm39) Q483K probably benign Het
Kansl2 A G 15: 98,418,197 (GRCm39) probably null Het
Kdm5d G A Y: 921,528 (GRCm39) A509T probably benign Het
Krt13 A T 11: 100,008,437 (GRCm39) D433E unknown Het
Lat2 C T 5: 134,632,308 (GRCm39) V142M probably damaging Het
Lemd1 A C 1: 132,184,463 (GRCm39) *102S probably null Het
Lrfn2 T C 17: 49,376,934 (GRCm39) L5P possibly damaging Het
Lrrc4c T G 2: 97,459,557 (GRCm39) probably null Het
Lypla1 T A 1: 4,878,594 (GRCm39) probably null Het
Magi2 G A 5: 20,816,091 (GRCm39) G744R probably damaging Het
Myh14 T A 7: 44,274,502 (GRCm39) E948V probably null Het
Myo5a C A 9: 75,074,489 (GRCm39) Y799* probably null Het
Nacc1 A C 8: 85,401,700 (GRCm39) M371R possibly damaging Het
Nlrp5 T G 7: 23,109,372 (GRCm39) M106R probably benign Het
Oas1h C T 5: 121,005,229 (GRCm39) H226Y possibly damaging Het
Obscn A C 11: 58,929,690 (GRCm39) I5175R probably damaging Het
Pcdh7 T A 5: 57,878,497 (GRCm39) I684N probably damaging Het
Pcdhb3 T A 18: 37,435,706 (GRCm39) N557K probably damaging Het
Pde3b T C 7: 114,015,675 (GRCm39) L297S probably damaging Het
Ptk2 T G 15: 73,176,293 (GRCm39) Y251S possibly damaging Het
Ralgds A G 2: 28,433,673 (GRCm39) N219S probably damaging Het
Sardh C A 2: 27,087,540 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,356 (GRCm39) K212N possibly damaging Het
Sh3bp2 A G 5: 34,716,971 (GRCm39) N461D probably benign Het
Shisa2 A T 14: 59,867,357 (GRCm39) Q203L probably damaging Het
Shmt1 C A 11: 60,688,383 (GRCm39) G255V probably damaging Het
Socs1 T A 16: 10,602,357 (GRCm39) I127F possibly damaging Het
Srcap A T 7: 127,137,922 (GRCm39) T1091S probably benign Het
Syt14 A G 1: 192,613,003 (GRCm39) I599T probably damaging Het
Tep1 A T 14: 51,084,457 (GRCm39) N907K probably benign Het
Themis2 A G 4: 132,513,291 (GRCm39) Y312H probably benign Het
Tubgcp5 T G 7: 55,473,357 (GRCm39) S812A probably benign Het
Ush2a A T 1: 188,582,237 (GRCm39) I3767F probably damaging Het
Usp40 T A 1: 87,907,738 (GRCm39) E626V probably damaging Het
Utrn T C 10: 12,566,620 (GRCm39) R1181G probably benign Het
Vmn2r117 T A 17: 23,698,535 (GRCm39) I13F probably damaging Het
Wdr48 G T 9: 119,753,775 (GRCm39) V646F probably damaging Het
Wdr64 T C 1: 175,633,556 (GRCm39) F936L possibly 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
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'- AAAAGCCTCTGCACTGGGAG -3'
(R):5'- CGGCTACCTTTATGAGCACAAC -3'

Sequencing Primer
(F):5'- TCACCAGCCCATTGGAGC -3'
(R):5'- GGCTACCTTTATGAGCACAACTTTGC -3'
Posted On 2017-06-26