Incidental Mutation 'R9109:Pigc'
ID 692116
Institutional Source Beutler Lab
Gene Symbol Pigc
Ensembl Gene ENSMUSG00000026698
Gene Name phosphatidylinositol glycan anchor biosynthesis, class C
Synonyms 3110030E07Rik
MMRRC Submission 068918-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9109 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 161796755-161801004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 161798032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 5 (R5C)
Ref Sequence ENSEMBL: ENSMUSP00000028021 (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: R5C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: R5C

DomainStartEndE-ValueType
Pfam:GPI2 14 284 6.2e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111594
AA Change: R5C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: R5C

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159648
AA Change: R5C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect probably benign
Transcript: ENSMUST00000160881
AA Change: R5C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698
AA Change: R5C

DomainStartEndE-ValueType
Pfam:GPI2 14 140 2.8e-39 PFAM
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: R5C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: R5C

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,198,923 (GRCm39) A110D probably benign Het
4930407I10Rik A G 15: 81,947,615 (GRCm39) E504G probably benign Het
4931406B18Rik C A 7: 43,148,702 (GRCm39) A170S Het
Apbb2 T C 5: 66,609,018 (GRCm39) K210E probably benign Het
Arid4a C A 12: 71,122,129 (GRCm39) L515I probably damaging Het
Atp13a3 A G 16: 30,134,716 (GRCm39) S1186P possibly damaging Het
Brf1 A G 12: 112,927,011 (GRCm39) Y500H probably damaging Het
Btaf1 A G 19: 36,964,114 (GRCm39) Y895C probably benign Het
Cdhr17 T A 5: 16,997,909 (GRCm39) V47E possibly damaging Het
Cenpf T C 1: 189,391,571 (GRCm39) T737A probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Col18a1 G A 10: 76,893,204 (GRCm39) T1057M probably damaging Het
Col1a2 T A 6: 4,515,260 (GRCm39) probably null Het
Csmd3 A C 15: 47,617,187 (GRCm39) H1000Q Het
Cyp4a29 T A 4: 115,108,395 (GRCm39) M373K probably damaging Het
Dnhd1 A G 7: 105,333,173 (GRCm39) E215G probably damaging Het
Dusp19 T C 2: 80,447,729 (GRCm39) M1T probably null Het
Etv4 A G 11: 101,664,492 (GRCm39) Y253H probably benign Het
Exosc6 G A 8: 111,783,513 (GRCm39) A171T probably damaging Het
Fam219a G A 4: 41,521,870 (GRCm39) T70M probably damaging Het
Fau G A 19: 6,108,297 (GRCm39) R6H probably benign Het
Flrt3 T C 2: 140,501,879 (GRCm39) D583G probably damaging Het
Gm14443 A T 2: 175,011,869 (GRCm39) C192* probably null Het
Gm4353 T A 7: 115,682,843 (GRCm39) N246I probably benign Het
Igfn1 A G 1: 135,926,327 (GRCm39) L41P probably benign Het
Jakmip3 A T 7: 138,622,560 (GRCm39) I307F probably damaging Het
Kcnt2 T A 1: 140,353,035 (GRCm39) V248D probably damaging Het
Kctd14 A G 7: 97,107,243 (GRCm39) K166R probably benign Het
Kdm5b T C 1: 134,528,493 (GRCm39) probably null Het
Kif5c A G 2: 49,620,151 (GRCm39) D461G probably damaging Het
Lpin2 T C 17: 71,538,516 (GRCm39) probably null Het
Mettl22 G A 16: 8,305,231 (GRCm39) D295N probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Or10a5 A T 7: 106,635,640 (GRCm39) I93F probably damaging Het
Or5b95 T A 19: 12,658,190 (GRCm39) C239* probably null Het
Or5k8 A T 16: 58,644,677 (GRCm39) Y132N probably damaging Het
Pecam1 G T 11: 106,586,587 (GRCm39) N309K probably damaging Het
Pih1d1 T C 7: 44,809,193 (GRCm39) V259A possibly damaging Het
Ptpre A G 7: 135,271,508 (GRCm39) I374M probably benign Het
Rnps1 A G 17: 24,637,573 (GRCm39) S72G unknown Het
S100pbp A G 4: 129,044,847 (GRCm39) Y363H probably damaging Het
Sema5a A G 15: 32,619,040 (GRCm39) T523A probably benign Het
Slc38a8 A G 8: 120,212,851 (GRCm39) F270S possibly damaging Het
Slc4a1ap T C 5: 31,693,538 (GRCm39) S491P probably damaging Het
Slc66a2 T C 18: 80,300,300 (GRCm39) L57P probably damaging Het
Slc7a6 T C 8: 106,922,534 (GRCm39) V440A probably damaging Het
Sobp A T 10: 42,898,902 (GRCm39) C228S probably damaging Het
Sox8 T C 17: 25,787,813 (GRCm39) D212G possibly damaging Het
Specc1 A G 11: 62,102,464 (GRCm39) probably null Het
Svop G A 5: 114,168,231 (GRCm39) T456M probably benign Het
Synrg A G 11: 83,900,278 (GRCm39) D750G probably damaging Het
Syt14 C A 1: 192,612,944 (GRCm39) E336* probably null Het
Tcp10c A T 17: 13,576,650 (GRCm39) Q76H probably damaging Het
Tcp11l1 C T 2: 104,528,897 (GRCm39) V134I possibly damaging Het
Tex51 T C 18: 32,594,029 (GRCm39) R110G possibly damaging Het
Tle3 T A 9: 61,319,562 (GRCm39) H443Q possibly damaging Het
Unc13a C T 8: 72,108,335 (GRCm39) R506Q possibly damaging Het
Vmn2r27 T C 6: 124,174,224 (GRCm39) Y542C possibly damaging Het
Vmn2r5 T G 3: 64,411,411 (GRCm39) N386H possibly damaging Het
Vmn2r91 A G 17: 18,327,905 (GRCm39) I500V probably damaging Het
Wdfy4 A T 14: 32,760,704 (GRCm39) probably null Het
Zfp709 A T 8: 72,644,648 (GRCm39) E692D possibly damaging Het
Zglp1 A T 9: 20,977,482 (GRCm39) L111Q 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
R1450:Pigc UTSW 1 161,798,822 (GRCm39) missense probably benign 0.01
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
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'- AATTTAGCTGTGTTGTCCTGACCC -3'
(R):5'- TGCACAGCTGCTGTATCACC -3'

Sequencing Primer
(F):5'- AATGCAGGCTCAGCTTGTAC -3'
(R):5'- AGCTGCTGTATCACCACACTGG -3'
Posted On 2021-12-30