Incidental Mutation 'R5193:Pigc'
ID 399803
Institutional Source Beutler Lab
Gene Symbol Pigc
Ensembl Gene ENSMUSG00000026698
Gene Name phosphatidylinositol glycan anchor biosynthesis, class C
Synonyms 3110030E07Rik
MMRRC Submission 042769-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5193 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 161796755-161801004 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 161798465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 149 (I149T)
Ref Sequence ENSEMBL: ENSMUSP00000141646 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028021] [ENSMUST00000111594] [ENSMUST00000159648] [ENSMUST00000160881] [ENSMUST00000193784] [ENSMUST00000162676]
AlphaFold Q9CXR4
Predicted Effect possibly damaging
Transcript: ENSMUST00000028021
AA Change: I149T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028021
Gene: ENSMUSG00000026698
AA Change: I149T

DomainStartEndE-ValueType
Pfam:GPI2 14 284 6.2e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111594
AA Change: I149T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107221
Gene: ENSMUSG00000026698
AA Change: I149T

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 possibly damaging
Transcript: ENSMUST00000193784
AA Change: I149T

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000141646
Gene: ENSMUSG00000026698
AA Change: I149T

DomainStartEndE-ValueType
Pfam:GPI2 14 284 1.7e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162676
SMART Domains Protein: ENSMUSP00000124751
Gene: ENSMUSG00000086277

DomainStartEndE-ValueType
Pfam:DUF4548 17 181 1.9e-89 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,677,226 (GRCm39) *56R probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arfgap3 C T 15: 83,216,898 (GRCm39) A156T probably benign Het
Bpifc T C 10: 85,836,497 (GRCm39) T3A probably benign Het
Ccdc7a T A 8: 129,715,278 (GRCm39) I269L probably benign Het
Cd151 A G 7: 141,050,606 (GRCm39) Y253C probably damaging Het
Cenpl C A 1: 160,911,037 (GRCm39) S328* probably null Het
Cfl1 T A 19: 5,542,580 (GRCm39) V20D probably damaging Het
Clec14a A G 12: 58,315,400 (GRCm39) L74P probably damaging Het
Cnn1 A T 9: 22,019,132 (GRCm39) D196V probably damaging Het
Cst13 C A 2: 148,670,143 (GRCm39) C104* probably null Het
Det1 A G 7: 78,493,302 (GRCm39) V234A probably damaging Het
Efnb2 A G 8: 8,673,162 (GRCm39) M165T probably damaging Het
Fbxo10 T A 4: 45,051,573 (GRCm39) K339* probably null Het
Fnta A T 8: 26,501,246 (GRCm39) probably null Het
Fsip2 A T 2: 82,813,338 (GRCm39) Y3219F possibly damaging Het
Gprin2 C T 14: 33,916,832 (GRCm39) V313M possibly damaging Het
Hars1 A G 18: 36,900,358 (GRCm39) L448S possibly damaging Het
Hipk3 A G 2: 104,260,345 (GRCm39) I1166T possibly damaging Het
Il31ra T C 13: 112,660,864 (GRCm39) E602G probably benign Het
Kctd15 A G 7: 34,344,282 (GRCm39) L123P probably damaging Het
Kifbp T C 10: 62,395,175 (GRCm39) D489G possibly damaging Het
Krt1 C A 15: 101,754,357 (GRCm39) S631I unknown Het
Lancl1 T A 1: 67,060,173 (GRCm39) Y84F probably benign Het
Lcor A G 19: 41,570,969 (GRCm39) D54G probably damaging Het
Mafa G T 15: 75,619,666 (GRCm39) P36T unknown Het
Magi2 G A 5: 20,563,970 (GRCm39) probably null Het
Mcm9 T A 10: 53,492,134 (GRCm39) I396F probably damaging Het
Mrgprh T C 17: 13,095,942 (GRCm39) F61L probably damaging Het
Or10g1b A G 14: 52,628,069 (GRCm39) W54R probably benign Het
Or1e16 TAGCGGTCGTA T 11: 73,286,479 (GRCm39) probably null Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or51a7 T A 7: 102,615,143 (GRCm39) F279I possibly damaging Het
Or5w17 A T 2: 87,583,448 (GRCm39) D296E possibly damaging Het
Pcsk5 T A 19: 17,542,174 (GRCm39) T806S possibly damaging Het
Pou5f2 C A 13: 78,173,083 (GRCm39) N8K probably benign Het
Pou6f2 T C 13: 18,300,129 (GRCm39) probably benign Het
Prl3d2 T A 13: 27,306,312 (GRCm39) M13K possibly damaging Het
Pzp T C 6: 128,479,297 (GRCm39) N619D probably benign Het
Rnps1 G A 17: 24,637,517 (GRCm39) S53N probably benign Het
Scaf8 C G 17: 3,240,440 (GRCm39) A604G probably benign Het
Scn10a T C 9: 119,438,721 (GRCm39) N1716S probably damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc34a1 A G 13: 24,003,845 (GRCm39) probably null Het
Syne2 A G 12: 76,141,194 (GRCm39) D6102G probably damaging Het
Tbc1d16 A T 11: 119,049,646 (GRCm39) D283E probably benign Het
Tet1 T C 10: 62,674,026 (GRCm39) D1350G probably benign Het
Trpa1 A G 1: 14,946,141 (GRCm39) Y997H possibly damaging Het
Tyro3 T C 2: 119,640,998 (GRCm39) L494P probably damaging Het
Uba6 G T 5: 86,272,281 (GRCm39) Q803K probably benign Het
Vgll2 T A 10: 51,904,088 (GRCm39) L317Q possibly damaging Het
Wdr62 A T 7: 29,964,592 (GRCm39) I384N probably damaging Het
Wdtc1 G A 4: 133,021,678 (GRCm39) R619* probably null Het
Xkr6 A G 14: 64,056,356 (GRCm39) D89G possibly damaging 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
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'- ACTGGCATCTTCCTTGGTTG -3'
(R):5'- AAGTGACCCCTACATAGCTTCG -3'

Sequencing Primer
(F):5'- GCATCTTCCTTGGTTGGGTATG -3'
(R):5'- TTCTGTAACATGGGCCACAG -3'
Posted On 2016-07-06