Incidental Mutation 'R8030:Pigc'
ID 617868
Institutional Source Beutler Lab
Gene Symbol Pigc
Ensembl Gene ENSMUSG00000026698
Gene Name phosphatidylinositol glycan anchor biosynthesis, class C
Synonyms 3110030E07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8030 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 161796755-161801004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 161798116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 33 (F33L)
Ref Sequence ENSEMBL: ENSMUSP00000028021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028021] [ENSMUST00000111594] [ENSMUST00000159648] [ENSMUST00000160881] [ENSMUST00000162676] [ENSMUST00000193784]
AlphaFold Q9CXR4
Predicted Effect probably damaging
Transcript: ENSMUST00000028021
AA Change: F33L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: F33L

DomainStartEndE-ValueType
Pfam:GPI2 14 284 6.2e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111594
AA Change: F33L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: F33L

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159648
Predicted Effect probably damaging
Transcript: ENSMUST00000160881
AA Change: F33L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125321
Gene: ENSMUSG00000026698
AA Change: F33L

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 damaging
Transcript: ENSMUST00000193784
AA Change: F33L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: F33L

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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
1700012B09Rik A G 9: 14,672,970 (GRCm39) S98P probably benign Het
Abca9 C T 11: 110,011,534 (GRCm39) V1170I probably benign Het
Acacb A G 5: 114,371,228 (GRCm39) T1786A probably damaging Het
Acmsd T C 1: 127,676,898 (GRCm39) I141T possibly damaging Het
Akr1c12 A G 13: 4,322,244 (GRCm39) V266A possibly damaging Het
Arhgef18 A T 8: 3,489,600 (GRCm39) I311F probably damaging Het
Armc2 T A 10: 41,842,738 (GRCm39) N355I possibly damaging Het
Armh1 T A 4: 117,087,184 (GRCm39) K160N probably benign Het
Asic1 A T 15: 99,592,722 (GRCm39) T236S possibly damaging Het
Avl9 T A 6: 56,718,407 (GRCm39) D424E probably damaging Het
Cbfa2t2 A T 2: 154,357,816 (GRCm39) Q197L probably damaging Het
Ccdc136 T C 6: 29,417,141 (GRCm39) V654A probably benign Het
Cd177 C T 7: 24,455,594 (GRCm39) W309* probably null Het
Cplane1 G T 15: 8,259,787 (GRCm39) G2383V probably damaging Het
Cracr2a A G 6: 127,588,386 (GRCm39) K182E probably damaging Het
Dpys T C 15: 39,691,486 (GRCm39) T279A possibly damaging Het
Dsc1 A T 18: 20,222,628 (GRCm39) S615T probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efcab14 A G 4: 115,623,599 (GRCm39) Q390R probably benign Het
Eif4ebp2 G A 10: 61,270,825 (GRCm39) A68V probably damaging Het
Fam81a A G 9: 70,010,191 (GRCm39) S149P probably benign Het
Ffar4 A G 19: 38,095,839 (GRCm39) I193V possibly damaging Het
Flvcr2 T A 12: 85,845,312 (GRCm39) V377D probably damaging Het
Fscn1 C T 5: 142,946,756 (GRCm39) R185C possibly damaging Het
Gucy1b2 C T 14: 62,630,319 (GRCm39) S809N probably benign Het
H60b T A 10: 22,163,020 (GRCm39) N198K probably damaging Het
Helz2 A T 2: 180,879,689 (GRCm39) F643Y possibly damaging Het
Kash5 CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC 7: 44,837,608 (GRCm39) probably benign Het
Kif28 A G 1: 179,526,629 (GRCm39) V846A probably benign Het
Kirrel1 C A 3: 87,005,082 (GRCm39) G89W probably damaging Het
Krt42 G C 11: 100,155,865 (GRCm39) R294G possibly damaging Het
Mb21d2 A G 16: 28,646,555 (GRCm39) F473S probably damaging Het
Mcrip2 G A 17: 26,083,306 (GRCm39) Q111* probably null Het
Msh5 A G 17: 35,248,724 (GRCm39) Y741H possibly damaging Het
Myo7b A G 18: 32,131,135 (GRCm39) I544T probably damaging Het
Nav1 T C 1: 135,464,977 (GRCm39) E276G probably damaging Het
Nr2f1 T C 13: 78,343,565 (GRCm39) N233S probably benign Het
Nrip2 A T 6: 128,383,484 (GRCm39) D124V possibly damaging Het
Or5al1 C T 2: 85,990,586 (GRCm39) V43I probably benign Het
Or8k16 T A 2: 85,520,063 (GRCm39) C97S probably damaging Het
Panx2 G T 15: 88,952,282 (GRCm39) A250S probably damaging Het
Pdc T C 1: 150,208,964 (GRCm39) L149P probably damaging Het
Pex5l T A 3: 33,008,568 (GRCm39) I445F possibly damaging Het
Pkp2 A T 16: 16,064,774 (GRCm39) M433L probably benign Het
Rbfox2 A G 15: 76,969,776 (GRCm39) probably null Het
Rd3l A G 12: 111,946,584 (GRCm39) L64P possibly damaging Het
Rnf220 A G 4: 117,135,025 (GRCm39) Y409H probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Sel1l2 T C 2: 140,082,938 (GRCm39) T567A probably damaging Het
Slc22a8 T C 19: 8,587,371 (GRCm39) I477T probably damaging Het
Sltm C T 9: 70,493,261 (GRCm39) R753* probably null Het
Specc1l T A 10: 75,084,389 (GRCm39) M687K probably damaging Het
Spock3 T G 8: 63,805,232 (GRCm39) C338G probably damaging Het
Ssh2 C A 11: 77,345,332 (GRCm39) Q1106K probably benign Het
Sycp2l A G 13: 41,326,146 (GRCm39) M251V not run Het
Tdrd5 C A 1: 156,098,165 (GRCm39) E711* probably null Het
Thop1 T C 10: 80,911,450 (GRCm39) M112T possibly damaging Het
Tln1 C T 4: 43,535,737 (GRCm39) probably null Het
Ttc28 A C 5: 111,433,922 (GRCm39) I2319L possibly damaging Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Txndc8 T C 4: 57,984,178 (GRCm39) E151G probably damaging Het
Ubr1 T C 2: 120,764,855 (GRCm39) E533G probably damaging Het
Zscan4f A G 7: 11,135,290 (GRCm39) H232R 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
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'- AGGGTATCAGCATGGCATTTC -3'
(R):5'- ACCAAGGAAGATGCCAGTCC -3'

Sequencing Primer
(F):5'- GGCATTTCCAGAGAGTTCTTAATC -3'
(R):5'- AAGATGCCAGTCCGGTCC -3'
Posted On 2020-01-23