Incidental Mutation 'R1450:Pigc'
ID 162120
Institutional Source Beutler Lab
Gene Symbol Pigc
Ensembl Gene ENSMUSG00000026698
Gene Name phosphatidylinositol glycan anchor biosynthesis, class C
Synonyms 3110030E07Rik
MMRRC Submission 039505-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1450 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 161796755-161801004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 161798822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
Ref Sequence ENSEMBL: ENSMUSP00000141646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028021] [ENSMUST00000111594] [ENSMUST00000159648] [ENSMUST00000160881] [ENSMUST00000162676] [ENSMUST00000193784]
AlphaFold Q9CXR4
Predicted Effect probably benign
Transcript: ENSMUST00000028021
AA Change: Y268C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: Y268C

DomainStartEndE-ValueType
Pfam:GPI2 14 284 6.2e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111594
AA Change: Y268C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: Y268C

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141397
Predicted Effect probably benign
Transcript: ENSMUST00000159648
Predicted Effect probably benign
Transcript: ENSMUST00000160881
SMART Domains Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698

DomainStartEndE-ValueType
Pfam:GPI2 14 140 2.8e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161826
Predicted Effect probably benign
Transcript: ENSMUST00000162676
SMART Domains Protein: ENSMUSP00000124751
Gene: ENSMUSG00000086277

DomainStartEndE-ValueType
Pfam:DUF4548 17 181 1.9e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193784
AA Change: Y268C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: Y268C

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Meta Mutation Damage Score 0.0735 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 84.8%
Validation Efficiency 96% (73/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,380,531 (GRCm39) probably benign Het
Adh4 C T 3: 138,129,935 (GRCm39) P254S probably damaging Het
Amfr T C 8: 94,714,375 (GRCm39) T223A probably benign Het
Ank2 T C 3: 126,750,951 (GRCm39) T412A possibly damaging Het
Bag6 T A 17: 35,360,934 (GRCm39) D422E probably benign Het
Ccdc185 T G 1: 182,575,129 (GRCm39) Q520P possibly damaging Het
Cfap276 T A 3: 108,449,799 (GRCm39) probably null Het
Clock G A 5: 76,410,578 (GRCm39) Q98* probably null Het
Cngb3 A T 4: 19,395,922 (GRCm39) probably benign Het
Csmd1 T G 8: 15,995,180 (GRCm39) probably null Het
Cubn A G 2: 13,365,130 (GRCm39) L1636P probably damaging Het
Dennd4a A G 9: 64,818,947 (GRCm39) I1701V probably benign Het
Dgcr2 T C 16: 17,674,678 (GRCm39) H243R possibly damaging Het
Dimt1 A G 13: 107,084,151 (GRCm39) N46S probably benign Het
Dnah9 T C 11: 65,818,612 (GRCm39) Y58C probably damaging Het
Dsg1b T A 18: 20,542,241 (GRCm39) V916E probably damaging Het
Dst T C 1: 34,227,476 (GRCm39) S1690P probably damaging Het
Dst T A 1: 34,251,340 (GRCm39) I2131K probably damaging Het
Epb41l1 T C 2: 156,353,745 (GRCm39) probably benign Het
Fem1a T C 17: 56,564,579 (GRCm39) V224A probably damaging Het
Got2 C T 8: 96,598,614 (GRCm39) E203K probably benign Het
Hcar2 A T 5: 124,002,813 (GRCm39) I230N probably damaging Het
Herc3 A T 6: 58,853,500 (GRCm39) K554* probably null Het
Hfm1 A G 5: 107,066,324 (GRCm39) F35L probably damaging Het
Hmcn1 A G 1: 150,528,257 (GRCm39) probably benign Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hs2st1 C T 3: 144,140,479 (GRCm39) probably benign Het
Igfbp5 T A 1: 72,913,048 (GRCm39) D84V probably benign Het
Ints3 C A 3: 90,340,135 (GRCm39) L41F probably damaging Het
Ipo5 T C 14: 121,181,805 (GRCm39) V966A probably benign Het
Kif26a C T 12: 112,140,286 (GRCm39) T505M probably damaging Het
Kpna2 A G 11: 106,888,135 (GRCm39) S2P probably benign Het
Lct A G 1: 128,235,640 (GRCm39) S456P probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc7 T G 3: 157,892,681 (GRCm39) I323L possibly damaging Het
Ly6g A G 15: 75,030,482 (GRCm39) K77R probably benign Het
Maea T C 5: 33,523,144 (GRCm39) probably null Het
Marco A T 1: 120,404,474 (GRCm39) probably benign Het
Mcmbp G T 7: 128,317,655 (GRCm39) probably benign Het
Mtcl3 A T 10: 29,023,736 (GRCm39) N361I probably damaging Het
Mtr T A 13: 12,208,619 (GRCm39) R1017W probably damaging Het
Myo15a T A 11: 60,386,308 (GRCm39) I1811N probably damaging Het
Nbeal2 G A 9: 110,462,740 (GRCm39) probably benign Het
Nlrp10 A G 7: 108,524,595 (GRCm39) V295A probably damaging Het
Or10ak7 T C 4: 118,791,707 (GRCm39) T111A probably benign Het
Or51ac3 A G 7: 103,213,658 (GRCm39) V276A probably benign Het
Or5e1 A T 7: 108,354,719 (GRCm39) I219F probably damaging Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Peg12 C A 7: 62,113,324 (GRCm39) G258* probably null Het
Pnisr G T 4: 21,874,912 (GRCm39) probably null Het
Poteg T C 8: 27,937,871 (GRCm39) F5S probably benign Het
Prss40 T A 1: 34,595,178 (GRCm39) I101F probably benign Het
Ptges3l T A 11: 101,312,731 (GRCm39) D113V possibly damaging Het
Raver2 T C 4: 100,993,349 (GRCm39) S510P possibly damaging Het
Rgr A T 14: 36,766,641 (GRCm39) C94* probably null Het
Rp1l1 T A 14: 64,265,599 (GRCm39) I395N probably benign Het
Sesn3 T A 9: 14,227,520 (GRCm39) H168Q possibly damaging Het
Sox30 C A 11: 45,908,098 (GRCm39) P755Q probably damaging Het
Stac3 T C 10: 127,340,754 (GRCm39) F173S probably damaging Het
Synj2 C A 17: 6,077,599 (GRCm39) probably benign Het
Tars3 A T 7: 65,297,244 (GRCm39) I120L probably benign Het
Tas2r124 A G 6: 132,732,019 (GRCm39) I109M probably damaging Het
Tm4sf19 A T 16: 32,226,781 (GRCm39) H190L probably damaging Het
Tmem143 T G 7: 45,556,532 (GRCm39) V179G probably damaging Het
Ubr4 T C 4: 139,195,339 (GRCm39) F1187S probably damaging Het
Ubtfl1 A G 9: 18,321,209 (GRCm39) R246G possibly damaging Het
Zdhhc5 A G 2: 84,532,733 (GRCm39) F57S probably damaging Het
Zfp40 A T 17: 23,394,232 (GRCm39) M717K probably benign Het
Other mutations in Pigc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01725:Pigc APN 1 161,798,914 (GRCm39) utr 3 prime probably benign
IGL02009:Pigc APN 1 161,798,134 (GRCm39) missense possibly damaging 0.95
IGL02586:Pigc APN 1 161,798,503 (GRCm39) missense probably benign 0.02
IGL03095:Pigc APN 1 161,798,345 (GRCm39) missense possibly damaging 0.79
IGL03109:Pigc APN 1 161,798,345 (GRCm39) missense possibly damaging 0.79
apocryphon UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
pistis UTSW 1 161,798,516 (GRCm39) missense probably damaging 0.99
R6228_Pigc_444 UTSW 1 161,798,036 (GRCm39) missense probably benign 0.03
R0321:Pigc UTSW 1 161,798,668 (GRCm39) nonsense probably null
R1708:Pigc UTSW 1 161,798,293 (GRCm39) missense probably benign 0.00
R1857:Pigc UTSW 1 161,798,446 (GRCm39) missense possibly damaging 0.90
R1875:Pigc UTSW 1 161,798,516 (GRCm39) missense probably damaging 0.99
R2371:Pigc UTSW 1 161,798,579 (GRCm39) missense possibly damaging 0.72
R2940:Pigc UTSW 1 161,798,239 (GRCm39) missense possibly damaging 0.96
R3706:Pigc UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
R3707:Pigc UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
R3708:Pigc UTSW 1 161,798,663 (GRCm39) missense probably benign 0.21
R3725:Pigc UTSW 1 161,798,860 (GRCm39) missense possibly damaging 0.95
R5193:Pigc UTSW 1 161,798,465 (GRCm39) missense possibly damaging 0.91
R5682:Pigc UTSW 1 161,798,516 (GRCm39) missense probably damaging 0.99
R6228:Pigc UTSW 1 161,798,036 (GRCm39) missense probably benign 0.03
R7143:Pigc UTSW 1 161,798,161 (GRCm39) missense probably damaging 1.00
R7509:Pigc UTSW 1 161,798,545 (GRCm39) missense probably benign 0.06
R7829:Pigc UTSW 1 161,798,033 (GRCm39) missense probably benign
R8030:Pigc UTSW 1 161,798,116 (GRCm39) missense probably damaging 1.00
R8135:Pigc UTSW 1 161,798,134 (GRCm39) missense possibly damaging 0.95
R9109:Pigc UTSW 1 161,798,032 (GRCm39) missense probably benign 0.01
R9298:Pigc UTSW 1 161,798,032 (GRCm39) missense probably benign 0.01
R9703:Pigc UTSW 1 161,798,176 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TATCCAGATCTTTGCACTGTGGCCC -3'
(R):5'- CCTCCCCTAAGCCCTTGGTTAAATG -3'

Sequencing Primer
(F):5'- TGTGGCCCATGTTACAGAAG -3'
(R):5'- CTTCAAGAGTGGACCCCTG -3'
Posted On 2014-03-14