Incidental Mutation 'R1990:Pigk'
ID 224860
Institutional Source Beutler Lab
Gene Symbol Pigk
Ensembl Gene ENSMUSG00000039047
Gene Name phosphatidylinositol glycan anchor biosynthesis, class K
Synonyms 3000001O05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R1990 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 152419718-152548705 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152450131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 212 (Y212N)
Ref Sequence ENSEMBL: ENSMUSP00000123772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
AlphaFold Q9CXY9
Predicted Effect probably damaging
Transcript: ENSMUST00000045029
AA Change: Y259N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: Y259N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 183 2.4e-25 PFAM
Pfam:Peptidase_C13 203 353 2.2e-17 PFAM
transmembrane domain 411 430 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000051510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159045
Predicted Effect probably damaging
Transcript: ENSMUST00000159899
AA Change: Y212N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: Y212N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 1.6e-47 PFAM
transmembrane domain 364 383 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000161596
AA Change: Y212N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: Y212N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 5.5e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162642
AA Change: Y212N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: Y212N

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:Peptidase_C13 45 306 1.5e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162835
Predicted Effect probably benign
Transcript: ENSMUST00000200224
SMART Domains Protein: ENSMUSP00000142966
Gene: ENSMUSG00000039047

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Meta Mutation Damage Score 0.9238 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,771,419 (GRCm39) R203* probably null Het
Acp6 T C 3: 97,083,054 (GRCm39) L355P probably damaging Het
Aebp2 T C 6: 140,579,464 (GRCm39) S234P probably damaging Het
Anapc7 A G 5: 122,577,567 (GRCm39) D374G probably benign Het
Apob A T 12: 8,051,039 (GRCm39) I1088F probably damaging Het
Arid4b T C 13: 14,307,021 (GRCm39) V92A probably damaging Het
Armc3 T C 2: 19,297,953 (GRCm39) Y575H probably damaging Het
Asxl2 G T 12: 3,534,558 (GRCm39) G252* probably null Het
Atl1 A T 12: 70,010,102 (GRCm39) K556M probably damaging Het
AU018091 A G 7: 3,212,104 (GRCm39) V206A probably benign Het
Bcas1 A T 2: 170,212,397 (GRCm39) D383E possibly damaging Het
Bmx A G X: 163,015,192 (GRCm39) W257R probably benign Het
Bpifb6 T C 2: 153,747,270 (GRCm39) probably null Het
Cacna1b G A 2: 24,622,318 (GRCm39) P222L probably damaging Het
Cand1 A G 10: 119,045,972 (GRCm39) S978P probably damaging Het
Cap2 T A 13: 46,791,357 (GRCm39) Y175N possibly damaging Het
Caps2 G A 10: 112,036,591 (GRCm39) A384T probably benign Het
Catsperg2 A T 7: 29,420,470 (GRCm39) Y223* probably null Het
Cd81 G T 7: 142,620,938 (GRCm39) G206* probably null Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkn2aip G T 8: 48,165,211 (GRCm39) N167K probably benign Het
Ceacam14 T A 7: 17,549,290 (GRCm39) L227* probably null Het
Ceacam5 A T 7: 17,491,805 (GRCm39) D725V probably damaging Het
Cldn34a A T X: 151,346,841 (GRCm39) H171L probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Cp A G 3: 20,033,177 (GRCm39) D667G probably damaging Het
Cr2 G A 1: 194,836,458 (GRCm39) P1278S possibly damaging Het
Crat A G 2: 30,295,060 (GRCm39) Y452H possibly damaging Het
Cyp4f13 T A 17: 33,144,542 (GRCm39) H318L probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dmbt1 A G 7: 130,660,018 (GRCm39) N527S probably damaging Het
Fcgbpl1 A T 7: 27,853,785 (GRCm39) D1583V probably damaging Het
Fgb G T 3: 82,951,560 (GRCm39) Y256* probably null Het
Frmd3 T A 4: 74,105,676 (GRCm39) S441T probably damaging Het
Glp1r T A 17: 31,149,722 (GRCm39) C329S possibly damaging Het
Gm14190 G T 11: 99,581,431 (GRCm39) Q46K unknown Het
Golt1b T A 6: 142,338,080 (GRCm39) F17Y probably damaging Het
Gsdmc A G 15: 63,673,748 (GRCm39) I179T probably benign Het
Gsdmc2 T A 15: 63,700,086 (GRCm39) M229L probably benign Het
Gulp1 A C 1: 44,805,274 (GRCm39) N121T possibly damaging Het
Ift122 T A 6: 115,901,328 (GRCm39) F1037I probably damaging Het
Ildr1 A T 16: 36,536,568 (GRCm39) Y199F probably damaging Het
Ints2 T A 11: 86,139,760 (GRCm39) H278L possibly damaging Het
Invs T C 4: 48,392,599 (GRCm39) V271A possibly damaging Het
Kcnj2 T C 11: 110,963,709 (GRCm39) I367T probably benign Het
Kif21b T C 1: 136,089,508 (GRCm39) S1115P probably damaging Het
Lce1k A T 3: 92,714,125 (GRCm39) C20S unknown Het
Lcmt2 C A 2: 120,970,762 (GRCm39) R107L probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lrrc9 A C 12: 72,544,635 (GRCm39) R71S probably damaging Het
Mcc C A 18: 44,624,382 (GRCm39) E213* probably null Het
Mis18bp1 T C 12: 65,205,468 (GRCm39) T235A probably benign Het
Mta2 C T 19: 8,919,696 (GRCm39) probably benign Het
Nebl T A 2: 17,457,321 (GRCm39) I80F probably damaging Het
Nek10 A G 14: 14,860,764 (GRCm38) T467A probably benign Het
Nexn A T 3: 151,958,576 (GRCm39) F106I probably damaging Het
Nrdc T A 4: 108,896,972 (GRCm39) Y282* probably null Het
Nxf3 G A X: 134,976,583 (GRCm39) P380S possibly damaging Het
Oma1 C T 4: 103,178,971 (GRCm39) T208I probably damaging Het
Or1a1 T C 11: 74,086,989 (GRCm39) V220A probably damaging Het
Or4c31 A G 2: 88,291,686 (GRCm39) M1V probably null Het
Or4d10c C A 19: 12,065,620 (GRCm39) V179F probably damaging Het
Or4p21 A G 2: 88,277,033 (GRCm39) L83P probably damaging Het
Or51a42 A T 7: 103,708,335 (GRCm39) I158N possibly damaging Het
Or52l1 A T 7: 104,830,221 (GRCm39) C115S probably damaging Het
Or5p66 C A 7: 107,885,566 (GRCm39) G256* probably null Het
Or5p70 A G 7: 107,995,041 (GRCm39) Y238C probably benign Het
Panx2 A T 15: 88,953,941 (GRCm39) Y632F possibly damaging Het
Pdia4 T C 6: 47,773,589 (GRCm39) T587A probably benign Het
Piezo2 A T 18: 63,207,733 (GRCm39) L1426Q probably null Het
Pramel22 T A 4: 143,380,838 (GRCm39) Y395F probably damaging Het
Prl3b1 C T 13: 27,429,775 (GRCm39) T71I possibly damaging Het
Rab3gap1 A G 1: 127,870,166 (GRCm39) E929G possibly damaging Het
Rabl3 T C 16: 37,384,079 (GRCm39) I162T probably benign Het
Rasgrf2 T A 13: 92,172,473 (GRCm39) T188S probably damaging Het
Slc12a2 A G 18: 58,043,358 (GRCm39) I601V possibly damaging Het
Slc25a42 A T 8: 70,644,519 (GRCm39) I60N probably benign Het
Slc2a3 C T 6: 122,713,694 (GRCm39) G173S probably damaging Het
Slc46a3 G A 5: 147,823,404 (GRCm39) T146M probably damaging Het
Specc1 C A 11: 61,920,120 (GRCm39) P7T possibly damaging Het
Sptbn4 T C 7: 27,123,235 (GRCm39) D229G probably benign Het
Sspo T C 6: 48,427,984 (GRCm39) I154T probably benign Het
Stx5a T C 19: 8,726,254 (GRCm39) probably null Het
Stxbp6 A T 12: 44,902,640 (GRCm39) C210* probably null Het
Tagap1 C T 17: 7,224,285 (GRCm39) R137Q probably benign Het
Tbc1d9 A G 8: 83,997,932 (GRCm39) Y1163C probably damaging Het
Tex14 T G 11: 87,440,296 (GRCm39) L1367R probably damaging Het
Tnnt3 C T 7: 142,065,262 (GRCm39) R131C possibly damaging Het
Tpx2 T A 2: 152,732,544 (GRCm39) M606K probably benign Het
Trim46 A T 3: 89,145,008 (GRCm39) Y489N probably damaging Het
Ttc28 C T 5: 111,424,188 (GRCm39) S1485L probably benign Het
Txnl1 T C 18: 63,812,585 (GRCm39) T70A probably benign Het
Unc80 T C 1: 66,731,708 (GRCm39) L3053P probably damaging Het
Wars1 G T 12: 108,854,359 (GRCm39) N18K possibly damaging Het
Wnt8a A G 18: 34,677,937 (GRCm39) D115G probably damaging Het
Xndc1 T A 7: 101,722,398 (GRCm39) V21E probably damaging Het
Zfp493 T A 13: 67,934,388 (GRCm39) C114S probably damaging Het
Other mutations in Pigk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Pigk APN 3 152,453,269 (GRCm39) nonsense probably null
IGL00668:Pigk APN 3 152,448,173 (GRCm39) missense possibly damaging 0.50
IGL01335:Pigk APN 3 152,448,173 (GRCm39) missense probably benign 0.30
IGL01657:Pigk APN 3 152,428,157 (GRCm39) missense probably damaging 1.00
IGL01813:Pigk APN 3 152,448,156 (GRCm39) missense probably damaging 1.00
IGL02426:Pigk APN 3 152,448,120 (GRCm39) splice site probably null
IGL02871:Pigk APN 3 152,472,153 (GRCm39) missense probably damaging 1.00
IGL02963:Pigk APN 3 152,472,098 (GRCm39) nonsense probably null
R0135:Pigk UTSW 3 152,450,343 (GRCm39) splice site probably benign
R1750:Pigk UTSW 3 152,450,101 (GRCm39) missense probably damaging 1.00
R1766:Pigk UTSW 3 152,445,793 (GRCm39) missense probably damaging 1.00
R1991:Pigk UTSW 3 152,450,131 (GRCm39) missense probably damaging 1.00
R2010:Pigk UTSW 3 152,472,151 (GRCm39) missense probably damaging 1.00
R2864:Pigk UTSW 3 152,428,189 (GRCm39) missense probably damaging 1.00
R3883:Pigk UTSW 3 152,419,832 (GRCm39) missense probably benign 0.00
R4153:Pigk UTSW 3 152,445,766 (GRCm39) missense probably damaging 1.00
R4730:Pigk UTSW 3 152,448,203 (GRCm39) nonsense probably null
R4911:Pigk UTSW 3 152,445,841 (GRCm39) missense probably damaging 1.00
R4942:Pigk UTSW 3 152,450,154 (GRCm39) missense probably damaging 1.00
R5323:Pigk UTSW 3 152,443,837 (GRCm39) missense probably damaging 1.00
R5655:Pigk UTSW 3 152,445,858 (GRCm39) missense probably damaging 1.00
R5941:Pigk UTSW 3 152,472,150 (GRCm39) missense possibly damaging 0.94
R5986:Pigk UTSW 3 152,446,486 (GRCm39) missense probably benign 0.00
R6391:Pigk UTSW 3 152,446,486 (GRCm39) missense probably benign
R7182:Pigk UTSW 3 152,428,188 (GRCm39) missense possibly damaging 0.95
R7349:Pigk UTSW 3 152,453,238 (GRCm39) missense probably benign 0.04
R7947:Pigk UTSW 3 152,453,404 (GRCm39) missense probably benign 0.00
R7971:Pigk UTSW 3 152,450,176 (GRCm39) missense probably benign 0.26
R8915:Pigk UTSW 3 152,472,098 (GRCm39) missense probably benign 0.00
R8932:Pigk UTSW 3 152,445,871 (GRCm39) missense possibly damaging 0.64
Z1177:Pigk UTSW 3 152,472,109 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCTGAATCAGGTGGCAAAGAGC -3'
(R):5'- AGATGAACTCCAATCGCAGGG -3'

Sequencing Primer
(F):5'- GGCCACTGCTCCCTTTTTAAATG -3'
(R):5'- AGTCAGTGTCAATAGGATCACC -3'
Posted On 2014-08-25