Incidental Mutation 'R5655:Pigk'
ID 442228
Institutional Source Beutler Lab
Gene Symbol Pigk
Ensembl Gene ENSMUSG00000039047
Gene Name phosphatidylinositol glycan anchor biosynthesis, class K
Synonyms 3000001O05Rik
MMRRC Submission 043301-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R5655 (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 152445858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 156 (N156K)
Ref Sequence ENSEMBL: ENSMUSP00000123899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045029] [ENSMUST00000159899] [ENSMUST00000161596] [ENSMUST00000162642] [ENSMUST00000200224]
AlphaFold Q9CXY9
Predicted Effect probably damaging
Transcript: ENSMUST00000045029
AA Change: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045351
Gene: ENSMUSG00000039047
AA Change: N156K

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: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123772
Gene: ENSMUSG00000039047
AA Change: N156K

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: N156K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123753
Gene: ENSMUSG00000039047
AA Change: N156K

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: N156K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123899
Gene: ENSMUSG00000039047
AA Change: N156K

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,746 (GRCm39) I99F probably benign Het
Acan G A 7: 78,749,791 (GRCm39) D1521N possibly damaging Het
Acap3 C T 4: 155,981,076 (GRCm39) T53I probably benign Het
Actr3b G T 5: 26,053,366 (GRCm39) V232F probably damaging Het
Adgrl1 G A 8: 84,665,230 (GRCm39) V1311M possibly damaging Het
Arhgap23 T C 11: 97,343,372 (GRCm39) probably null Het
Asns A C 6: 7,685,309 (GRCm39) M116R probably benign Het
Asprv1 A T 6: 86,605,464 (GRCm39) E103D probably benign Het
Atxn2 T C 5: 121,885,489 (GRCm39) I232T probably damaging Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Bckdha A G 7: 25,329,789 (GRCm39) Y414H probably damaging Het
Bod1l G A 5: 41,974,387 (GRCm39) T2309M probably benign Het
Cacna2d1 T A 5: 16,507,333 (GRCm39) F361I probably damaging Het
Cdc45 C T 16: 18,626,029 (GRCm39) probably null Het
Cog4 A G 8: 111,589,939 (GRCm39) Y368C probably damaging Het
Cplx3 C T 9: 57,523,258 (GRCm39) V100M probably damaging Het
Cyp4a12b C G 4: 115,290,994 (GRCm39) H341D probably damaging Het
Ddx10 A T 9: 53,120,987 (GRCm39) probably null Het
Dnah12 A T 14: 26,431,424 (GRCm39) Y414F probably benign Het
Dync1h1 A G 12: 110,595,496 (GRCm39) K1445R probably benign Het
Dync2h1 A C 9: 7,148,659 (GRCm39) D928E probably benign Het
Dzip1 T A 14: 119,124,644 (GRCm39) probably null Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fgf14 T C 14: 124,429,828 (GRCm39) N36D probably benign Het
Fmnl3 A T 15: 99,219,743 (GRCm39) F668L probably damaging Het
Foxl2 C T 9: 98,838,048 (GRCm39) P112L probably damaging Het
Foxp2 T G 6: 15,197,112 (GRCm39) H51Q probably damaging Het
Frem3 A T 8: 81,339,323 (GRCm39) T539S probably benign Het
Ftcd G T 10: 76,423,937 (GRCm39) G493C probably damaging Het
Gab2 A G 7: 96,948,099 (GRCm39) S230G probably benign Het
Gabra1 A T 11: 42,073,750 (GRCm39) probably null Het
Gm14496 A T 2: 181,637,975 (GRCm39) I350L probably benign Het
Idh2 A C 7: 79,747,996 (GRCm39) C235G probably damaging Het
Ift140 C T 17: 25,264,038 (GRCm39) L514F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lamc3 C A 2: 31,815,729 (GRCm39) R1142S probably benign Het
Lmod2 A T 6: 24,603,853 (GRCm39) H276L possibly damaging Het
Lrrc37a T A 11: 103,389,381 (GRCm39) I2015L probably benign Het
Mcf2l A G 8: 13,060,444 (GRCm39) E764G probably damaging Het
Mcph1 G A 8: 18,838,326 (GRCm39) M749I probably benign Het
Msh2 C T 17: 88,026,871 (GRCm39) A789V possibly damaging Het
Ndufa2 T C 18: 36,877,519 (GRCm39) I19V probably benign Het
Neurod4 T A 10: 130,107,002 (GRCm39) K91* probably null Het
Nos1 G T 5: 118,061,322 (GRCm39) G883C probably damaging Het
Npdc1 A T 2: 25,297,692 (GRCm39) H121L possibly damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or3a10 A C 11: 73,935,160 (GRCm39) Y313* probably null Het
Orc1 A G 4: 108,450,636 (GRCm39) I123V probably benign Het
P2ry13 C T 3: 59,117,260 (GRCm39) V173M possibly damaging Het
Pik3ap1 A T 19: 41,286,680 (GRCm39) F569Y possibly damaging Het
Pla2g4c T A 7: 13,063,889 (GRCm39) probably null Het
Plk3 A G 4: 116,988,677 (GRCm39) L324P probably damaging Het
Pom121 A G 5: 135,421,171 (GRCm39) S260P unknown Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prrt2 G A 7: 126,618,574 (GRCm39) A297V probably damaging Het
Prss47 A T 13: 65,192,857 (GRCm39) V308E probably damaging Het
Ptbp2 T C 3: 119,517,806 (GRCm39) I139V probably benign Het
Ptprz1 A T 6: 22,999,772 (GRCm39) M621L probably benign Het
Rab6a G A 7: 100,257,501 (GRCm39) probably null Het
Ranbp1 C T 16: 18,059,669 (GRCm39) D127N probably damaging Het
Rnpepl1 G T 1: 92,847,032 (GRCm39) R272L probably damaging Het
Slc27a2 T C 2: 126,420,859 (GRCm39) L314P probably damaging Het
Slc6a5 A T 7: 49,606,218 (GRCm39) M709L probably benign Het
Smarcc1 A T 9: 109,986,412 (GRCm39) S238C probably null Het
Snx29 C T 16: 11,573,185 (GRCm39) L476F probably damaging Het
Sorbs2 T C 8: 46,194,618 (GRCm39) probably null Het
St6galnac2 T C 11: 116,575,972 (GRCm39) N160D probably damaging Het
Thsd7b A G 1: 129,556,671 (GRCm39) probably null Het
Trpc4ap G A 2: 155,495,547 (GRCm39) T306I possibly damaging Het
Ubr5 T G 15: 38,015,337 (GRCm39) Y891S probably damaging Het
Vmn1r220 A G 13: 23,368,298 (GRCm39) F133L probably benign Het
Vmn1r56 T A 7: 5,198,700 (GRCm39) I306F possibly damaging Het
Vmn1r67 T C 7: 10,181,315 (GRCm39) V193A probably benign Het
Yipf1 T A 4: 107,202,354 (GRCm39) V239E probably damaging Het
Zfp7 G T 15: 76,775,629 (GRCm39) C557F 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
R1990:Pigk UTSW 3 152,450,131 (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
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'- CTCGGAAGTGTATGCTTAGCTTTAG -3'
(R):5'- AAGGATCCTCAACCTATGTCCC -3'

Sequencing Primer
(F):5'- CTTTCTTCTAGGTAACTGTGGA -3'
(R):5'- GTCATTTCAGGTATACACACACTCG -3'
Posted On 2016-11-09