Incidental Mutation 'R6960:Pigg'
ID 541701
Institutional Source Beutler Lab
Gene Symbol Pigg
Ensembl Gene ENSMUSG00000029263
Gene Name phosphatidylinositol glycan anchor biosynthesis, class G
Synonyms Gpi7
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108460679-108497225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108474707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 309 (V309A)
Ref Sequence ENSEMBL: ENSMUSP00000031189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031189] [ENSMUST00000118910] [ENSMUST00000119014]
AlphaFold D3Z3Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000031189
AA Change: V309A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031189
Gene: ENSMUSG00000029263
AA Change: V309A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 68 314 6.3e-15 PFAM
transmembrane domain 428 450 N/A INTRINSIC
transmembrane domain 463 482 N/A INTRINSIC
transmembrane domain 497 519 N/A INTRINSIC
transmembrane domain 540 562 N/A INTRINSIC
low complexity region 653 664 N/A INTRINSIC
transmembrane domain 688 705 N/A INTRINSIC
transmembrane domain 712 734 N/A INTRINSIC
transmembrane domain 749 766 N/A INTRINSIC
transmembrane domain 785 802 N/A INTRINSIC
transmembrane domain 876 898 N/A INTRINSIC
transmembrane domain 911 933 N/A INTRINSIC
transmembrane domain 948 967 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118910
AA Change: V176A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112984
Gene: ENSMUSG00000029263
AA Change: V176A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
SCOP:d1eqja2 127 202 8e-8 SMART
transmembrane domain 303 325 N/A INTRINSIC
transmembrane domain 338 357 N/A INTRINSIC
transmembrane domain 372 394 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
low complexity region 528 539 N/A INTRINSIC
transmembrane domain 563 580 N/A INTRINSIC
transmembrane domain 587 609 N/A INTRINSIC
transmembrane domain 624 641 N/A INTRINSIC
transmembrane domain 660 677 N/A INTRINSIC
transmembrane domain 751 773 N/A INTRINSIC
transmembrane domain 786 808 N/A INTRINSIC
transmembrane domain 823 842 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119014
AA Change: V309A

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113818
Gene: ENSMUSG00000029263
AA Change: V309A

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Phosphodiest 164 286 2.2e-9 PFAM
transmembrane domain 436 458 N/A INTRINSIC
transmembrane domain 471 490 N/A INTRINSIC
transmembrane domain 505 527 N/A INTRINSIC
transmembrane domain 548 570 N/A INTRINSIC
low complexity region 661 672 N/A INTRINSIC
transmembrane domain 696 713 N/A INTRINSIC
transmembrane domain 720 742 N/A INTRINSIC
transmembrane domain 757 774 N/A INTRINSIC
transmembrane domain 793 810 N/A INTRINSIC
transmembrane domain 884 906 N/A INTRINSIC
transmembrane domain 919 941 N/A INTRINSIC
transmembrane domain 956 975 N/A INTRINSIC
Meta Mutation Damage Score 0.2246 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
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 glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Pigg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Pigg APN 5 108,489,944 (GRCm39) missense probably damaging 1.00
IGL01308:Pigg APN 5 108,484,343 (GRCm39) missense probably damaging 1.00
IGL01485:Pigg APN 5 108,484,067 (GRCm39) missense possibly damaging 0.90
IGL02043:Pigg APN 5 108,492,190 (GRCm39) missense probably damaging 1.00
IGL02104:Pigg APN 5 108,489,963 (GRCm39) missense probably damaging 1.00
IGL02238:Pigg APN 5 108,466,794 (GRCm39) missense possibly damaging 0.64
IGL02311:Pigg APN 5 108,484,246 (GRCm39) missense probably benign
IGL02608:Pigg APN 5 108,460,869 (GRCm39) missense probably damaging 0.98
IGL03338:Pigg APN 5 108,467,816 (GRCm39) missense probably damaging 1.00
P0033:Pigg UTSW 5 108,489,944 (GRCm39) missense probably damaging 1.00
R0082:Pigg UTSW 5 108,460,751 (GRCm39) start gained probably benign
R0449:Pigg UTSW 5 108,484,277 (GRCm39) missense probably benign 0.00
R0616:Pigg UTSW 5 108,461,951 (GRCm39) missense probably damaging 1.00
R1246:Pigg UTSW 5 108,489,686 (GRCm39) missense probably damaging 0.99
R1368:Pigg UTSW 5 108,465,154 (GRCm39) missense probably damaging 1.00
R1777:Pigg UTSW 5 108,465,257 (GRCm39) missense probably damaging 1.00
R1898:Pigg UTSW 5 108,484,408 (GRCm39) missense probably benign
R2022:Pigg UTSW 5 108,460,788 (GRCm39) start gained probably benign
R2037:Pigg UTSW 5 108,486,518 (GRCm39) missense probably damaging 1.00
R2157:Pigg UTSW 5 108,466,755 (GRCm39) missense probably damaging 1.00
R2181:Pigg UTSW 5 108,484,366 (GRCm39) missense probably damaging 0.96
R2291:Pigg UTSW 5 108,480,783 (GRCm39) missense probably damaging 0.97
R3157:Pigg UTSW 5 108,462,014 (GRCm39) missense probably damaging 1.00
R4117:Pigg UTSW 5 108,495,908 (GRCm39) missense probably benign 0.15
R4572:Pigg UTSW 5 108,480,751 (GRCm39) missense probably benign 0.27
R4589:Pigg UTSW 5 108,480,556 (GRCm39) missense probably benign
R5019:Pigg UTSW 5 108,480,015 (GRCm39) missense probably damaging 1.00
R5094:Pigg UTSW 5 108,484,123 (GRCm39) missense possibly damaging 0.90
R5329:Pigg UTSW 5 108,462,026 (GRCm39) missense probably damaging 0.99
R5960:Pigg UTSW 5 108,484,160 (GRCm39) missense probably benign 0.01
R5976:Pigg UTSW 5 108,480,057 (GRCm39) missense probably null 1.00
R6089:Pigg UTSW 5 108,489,788 (GRCm39) missense probably benign
R6797:Pigg UTSW 5 108,480,694 (GRCm39) missense probably damaging 0.99
R7090:Pigg UTSW 5 108,484,378 (GRCm39) missense possibly damaging 0.92
R7659:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7660:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7661:Pigg UTSW 5 108,486,485 (GRCm39) missense probably benign 0.03
R7732:Pigg UTSW 5 108,466,841 (GRCm39) missense probably benign 0.00
R7749:Pigg UTSW 5 108,484,162 (GRCm39) missense probably benign
R7765:Pigg UTSW 5 108,461,920 (GRCm39) missense probably benign 0.00
R8021:Pigg UTSW 5 108,467,805 (GRCm39) missense probably damaging 1.00
R8268:Pigg UTSW 5 108,486,509 (GRCm39) missense probably damaging 0.99
R8320:Pigg UTSW 5 108,495,717 (GRCm39) missense probably benign
R8545:Pigg UTSW 5 108,489,726 (GRCm39) missense probably damaging 1.00
R8943:Pigg UTSW 5 108,484,066 (GRCm39) missense probably damaging 0.99
R9502:Pigg UTSW 5 108,495,782 (GRCm39) missense
R9720:Pigg UTSW 5 108,467,800 (GRCm39) nonsense probably null
R9722:Pigg UTSW 5 108,495,767 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CTTAGGGGAAAGTGGCACTC -3'
(R):5'- AGACATAAGGCCCATGGAATC -3'

Sequencing Primer
(F):5'- CATAAAAATCAAGGGGGTGGTTTCTG -3'
(R):5'- ACCTTACCTTTTTCATAGGATGGTAC -3'
Posted On 2018-11-28