Incidental Mutation 'R9234:Pigp'
ID 701014
Institutional Source Beutler Lab
Gene Symbol Pigp
Ensembl Gene ENSMUSG00000022940
Gene Name phosphatidylinositol glycan anchor biosynthesis, class P
Synonyms Dcrc, Dscr5
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R9234 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 94159622-94171874 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 94165522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tyrosine at position 206 (*206Y)
Ref Sequence ENSEMBL: ENSMUSP00000109547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113905] [ENSMUST00000113906] [ENSMUST00000113910] [ENSMUST00000113914] [ENSMUST00000113917] [ENSMUST00000138514] [ENSMUST00000232294]
AlphaFold Q9JHG1
Predicted Effect probably null
Transcript: ENSMUST00000113905
AA Change: *133Y
SMART Domains Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940
AA Change: *133Y

DomainStartEndE-ValueType
Pfam:PIG-P 10 125 7.6e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113906
AA Change: *133Y
SMART Domains Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940
AA Change: *133Y

DomainStartEndE-ValueType
Pfam:PIG-P 10 125 7.6e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113910
AA Change: *162Y
SMART Domains Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940
AA Change: *162Y

DomainStartEndE-ValueType
Pfam:PIG-P 39 154 1.5e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113914
AA Change: *206Y
SMART Domains Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940
AA Change: *206Y

DomainStartEndE-ValueType
low complexity region 11 19 N/A INTRINSIC
Pfam:PIG-P 84 197 1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113917
SMART Domains Protein: ENSMUSP00000109550
Gene: ENSMUSG00000022940

DomainStartEndE-ValueType
Pfam:PIG-P 43 135 5.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138514
SMART Domains Protein: ENSMUSP00000114477
Gene: ENSMUSG00000022940

DomainStartEndE-ValueType
Pfam:PIG-P 43 152 1.2e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000232294
AA Change: *133Y
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,798 (GRCm39) Y20H probably benign Het
Arid5b A G 10: 67,964,628 (GRCm39) F348L possibly damaging Het
Bms1 C A 6: 118,375,044 (GRCm39) A777S probably damaging Het
C2cd3 A G 7: 100,049,012 (GRCm39) Y61C Het
Caprin2 A T 6: 148,744,337 (GRCm39) Y1029* probably null Het
Casp1 A T 9: 5,303,128 (GRCm39) D194V probably benign Het
Crkl A G 16: 17,286,822 (GRCm39) E126G probably damaging Het
Crp A T 1: 172,526,413 (GRCm39) D166V probably damaging Het
Dnah10 A C 5: 124,818,989 (GRCm39) D425A possibly damaging Het
Dnah11 A T 12: 117,951,095 (GRCm39) L3071Q probably damaging Het
Dnah9 T A 11: 65,924,751 (GRCm39) I2168F possibly damaging Het
Elp3 T A 14: 65,788,920 (GRCm39) I388F probably damaging Het
Espn C A 4: 152,217,380 (GRCm39) probably null Het
Fbrsl1 G T 5: 110,511,250 (GRCm39) F504L probably benign Het
Fzd9 A C 5: 135,279,540 (GRCm39) M115R probably damaging Het
Git2 A T 5: 114,899,682 (GRCm39) Y224N possibly damaging Het
Gm9195 A T 14: 72,695,786 (GRCm39) Y1415* probably null Het
Gnpat T A 8: 125,610,179 (GRCm39) L454Q probably damaging Het
Grm5 C T 7: 87,723,440 (GRCm39) P577S probably damaging Het
Hfm1 T C 5: 107,041,334 (GRCm39) N683S probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Leng8 C A 7: 4,145,247 (GRCm39) P216T probably damaging Het
Letm2 C A 8: 26,084,102 (GRCm39) R43L probably benign Het
Lims2 A T 18: 32,090,943 (GRCm39) Y309F probably benign Het
Llgl1 T C 11: 60,600,956 (GRCm39) probably null Het
Ltn1 A T 16: 87,194,089 (GRCm39) D1417E probably damaging Het
Map4k4 T A 1: 40,029,261 (GRCm39) N345K unknown Het
Mapre2 T C 18: 23,937,236 (GRCm39) I26T probably benign Het
Nfe2 A G 15: 103,159,636 (GRCm39) probably benign Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Ntrk1 A G 3: 87,695,622 (GRCm39) probably null Het
Or51b6b T A 7: 103,309,950 (GRCm39) Y169F possibly damaging Het
Or52e18 A G 7: 104,609,651 (GRCm39) F96S probably damaging Het
Or5h19 T C 16: 58,856,789 (GRCm39) N104D probably benign Het
Otud7b G T 3: 96,047,771 (GRCm39) Q43H probably damaging Het
Pcdhb5 T C 18: 37,453,695 (GRCm39) V25A probably benign Het
Pcolce2 A G 9: 95,560,439 (GRCm39) T163A probably benign Het
Pdgfra T A 5: 75,324,262 (GRCm39) V39E possibly damaging Het
Pdgfrb T A 18: 61,194,300 (GRCm39) W26R probably null Het
Pip5kl1 G T 2: 32,468,211 (GRCm39) G126C probably benign Het
Plekhg2 G T 7: 28,064,215 (GRCm39) T442K probably benign Het
Prmt5 A T 14: 54,748,674 (GRCm39) S375T possibly damaging Het
Rnf213 T A 11: 119,340,943 (GRCm39) M3529K Het
Ror2 C A 13: 53,265,374 (GRCm39) D573Y probably damaging Het
Shank1 A G 7: 43,962,579 (GRCm39) T98A unknown Het
Shcbp1 A T 8: 4,798,800 (GRCm39) I373K possibly damaging Het
Slc25a42 A G 8: 70,642,736 (GRCm39) S64P probably damaging Het
Smco3 T A 6: 136,808,410 (GRCm39) I155F probably damaging Het
Snx4 C A 16: 33,087,161 (GRCm39) S102* probably null Het
Snx4 T A 16: 33,108,069 (GRCm39) S288T probably benign Het
Socs4 A G 14: 47,527,716 (GRCm39) N217S probably benign Het
Tatdn2 G A 6: 113,679,683 (GRCm39) probably null Het
Tmprss2 A G 16: 97,379,821 (GRCm39) Y160H probably damaging Het
Trim37 T C 11: 87,036,393 (GRCm39) I158T possibly damaging Het
Trip11 C T 12: 101,811,990 (GRCm39) probably null Het
Ubr3 G A 2: 69,727,990 (GRCm39) A118T probably benign Het
Ubxn7 T C 16: 32,178,895 (GRCm39) probably null Het
Unc5cl C T 17: 48,770,658 (GRCm39) H369Y probably damaging Het
Unc5d A T 8: 29,250,877 (GRCm39) N263K probably damaging Het
Vmn2r59 A G 7: 41,661,907 (GRCm39) I636T possibly damaging Het
Vps13d G T 4: 144,875,792 (GRCm39) Q1578K Het
Wnk2 T C 13: 49,224,274 (GRCm39) D1171G probably damaging Het
Zfpm2 A G 15: 40,966,470 (GRCm39) Y985C probably damaging Het
Zpbp2 A T 11: 98,443,398 (GRCm39) N77I probably damaging Het
Other mutations in Pigp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02100:Pigp APN 16 94,165,626 (GRCm39) nonsense probably null
IGL02728:Pigp APN 16 94,168,466 (GRCm39) missense probably damaging 1.00
schweinchen UTSW 16 94,166,300 (GRCm39) missense probably damaging 1.00
R0092:Pigp UTSW 16 94,166,321 (GRCm39) missense probably damaging 0.96
R3614:Pigp UTSW 16 94,165,583 (GRCm39) missense possibly damaging 0.91
R4872:Pigp UTSW 16 94,166,309 (GRCm39) missense probably benign 0.18
R4959:Pigp UTSW 16 94,160,006 (GRCm39) missense probably benign 0.00
R4973:Pigp UTSW 16 94,160,006 (GRCm39) missense probably benign 0.00
R5970:Pigp UTSW 16 94,171,053 (GRCm39) critical splice acceptor site probably null
R6135:Pigp UTSW 16 94,171,065 (GRCm39) missense probably benign 0.20
R6179:Pigp UTSW 16 94,171,226 (GRCm39) missense probably null 0.99
R6732:Pigp UTSW 16 94,166,300 (GRCm39) missense probably damaging 1.00
R7576:Pigp UTSW 16 94,171,264 (GRCm39) missense probably benign 0.40
R8202:Pigp UTSW 16 94,165,528 (GRCm39) missense probably benign 0.43
R9645:Pigp UTSW 16 94,166,278 (GRCm39) nonsense probably null
R9768:Pigp UTSW 16 94,166,332 (GRCm39) missense probably damaging 1.00
Z1177:Pigp UTSW 16 94,171,554 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TGTGCACATATAGATCTACTCAAGG -3'
(R):5'- AGCAGTGTGATAGGTCTCAACC -3'

Sequencing Primer
(F):5'- GATCTACTCAAGGTTGACTATAG -3'
(R):5'- ACCAACCACAGAGCTTTTCTTC -3'
Posted On 2022-03-25