Incidental Mutation 'R0241:Pgap1'
ID 59458
Institutional Source Beutler Lab
Gene Symbol Pgap1
Ensembl Gene ENSMUSG00000073678
Gene Name post-GPI attachment to proteins 1
Synonyms 9030223K07Rik, D230012E17Rik, oto, 5033403E17Rik, PGAP1
MMRRC Submission 038479-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.764) question?
Stock # R0241 (G1)
Quality Score 94
Status Validated
Chromosome 1
Chromosomal Location 54512159-54596843 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 54575110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097739] [ENSMUST00000097739]
AlphaFold Q3UUQ7
Predicted Effect probably null
Transcript: ENSMUST00000097739
SMART Domains Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:PGAP1 82 302 7.2e-83 PFAM
transmembrane domain 597 619 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
transmembrane domain 737 759 N/A INTRINSIC
transmembrane domain 819 838 N/A INTRINSIC
low complexity region 854 866 N/A INTRINSIC
low complexity region 871 884 N/A INTRINSIC
transmembrane domain 902 921 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097739
SMART Domains Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:PGAP1 82 302 7.2e-83 PFAM
transmembrane domain 597 619 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
transmembrane domain 737 759 N/A INTRINSIC
transmembrane domain 819 838 N/A INTRINSIC
low complexity region 854 866 N/A INTRINSIC
low complexity region 871 884 N/A INTRINSIC
transmembrane domain 902 921 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185817
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause of mental retardation, autosomal recessive 42. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T A 6: 39,560,752 (GRCm39) V380E probably benign Het
Anapc1 A T 2: 128,470,549 (GRCm39) M1527K possibly damaging Het
Arfgef3 T A 10: 18,474,962 (GRCm39) I1575F probably damaging Het
Atp4a G T 7: 30,416,560 (GRCm39) G446C probably benign Het
Bicra A T 7: 15,709,070 (GRCm39) M1188K probably damaging Het
Brd7 G A 8: 89,072,478 (GRCm39) R331W probably benign Het
Cactin A G 10: 81,158,486 (GRCm39) T151A probably benign Het
Cadps G A 14: 12,376,675 (GRCm38) T1274M probably damaging Het
Catsper3 T C 13: 55,952,667 (GRCm39) M175T probably damaging Het
Chd5 A G 4: 152,450,589 (GRCm39) D605G probably damaging Het
Chst12 G A 5: 140,510,054 (GRCm39) R227H possibly damaging Het
Cic T A 7: 24,986,565 (GRCm39) S1299T probably damaging Het
Cic C A 7: 24,986,566 (GRCm39) S1299Y probably damaging Het
Cimap1d C T 10: 79,480,564 (GRCm39) probably null Het
Cobl A T 11: 12,204,524 (GRCm39) V644E probably benign Het
Ddx31 A G 2: 28,738,303 (GRCm39) T155A probably damaging Het
Dnah3 T C 7: 119,521,953 (GRCm39) Q4069R probably damaging Het
Dnah8 T C 17: 30,984,653 (GRCm39) I3117T probably damaging Het
Doc2b A G 11: 75,663,387 (GRCm39) V355A probably damaging Het
Dock10 A T 1: 80,556,340 (GRCm39) S578T probably benign Het
Duox1 T C 2: 122,163,878 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,509 (GRCm39) probably null Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcer2a A G 8: 3,738,796 (GRCm39) probably null Het
Fmnl1 G A 11: 103,072,996 (GRCm39) probably null Het
Fry A T 5: 150,183,811 (GRCm39) probably benign Het
Git2 T C 5: 114,871,290 (GRCm39) E208G probably damaging Het
Hs6st3 T C 14: 119,376,232 (GRCm39) F136L probably benign Het
Hydin G A 8: 111,124,655 (GRCm39) V555I probably benign Het
Kcns1 A T 2: 164,010,300 (GRCm39) I153N probably damaging Het
Kmt2b A G 7: 30,276,494 (GRCm39) L1726S probably damaging Het
Loxl3 A G 6: 83,027,114 (GRCm39) D615G probably damaging Het
Negr1 T A 3: 156,914,036 (GRCm39) probably benign Het
Nfasc C A 1: 132,564,731 (GRCm39) A70S probably benign Het
Or4d1 T A 11: 87,804,860 (GRCm39) N291Y probably damaging Het
Or4p21 A T 2: 88,276,889 (GRCm39) M131K possibly damaging Het
Or52n4 A G 7: 104,294,450 (GRCm39) M41T probably benign Het
Or5g29 A G 2: 85,421,154 (GRCm39) K90R probably benign Het
Otud7a T C 7: 63,346,992 (GRCm39) probably benign Het
Pacs2 T C 12: 113,032,890 (GRCm39) probably benign Het
Pde7b A G 10: 20,311,962 (GRCm39) C239R probably damaging Het
Pdzd2 A T 15: 12,368,027 (GRCm39) L2654Q probably damaging Het
Proz T A 8: 13,115,356 (GRCm39) M124K probably benign Het
Raet1d A G 10: 22,247,328 (GRCm39) T135A probably benign Het
Rapgef1 A G 2: 29,592,682 (GRCm39) N558S possibly damaging Het
Rpl7 C G 1: 16,173,446 (GRCm39) G101A possibly damaging Het
Sec14l1 G A 11: 117,037,924 (GRCm39) probably benign Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Simc1 G T 13: 54,698,338 (GRCm39) L1319F probably damaging Het
Sspo A G 6: 48,438,429 (GRCm39) E1499G possibly damaging Het
Tango6 C T 8: 107,473,993 (GRCm39) probably benign Het
Tas2r118 T C 6: 23,969,338 (GRCm39) Y241C probably damaging Het
Tbck A G 3: 132,430,636 (GRCm39) E344G probably benign Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Thop1 T A 10: 80,916,079 (GRCm39) probably benign Het
Tmbim7 A T 5: 3,716,866 (GRCm39) Y66F probably benign Het
Tmc8 C T 11: 117,677,207 (GRCm39) probably benign Het
Tnfrsf19 A G 14: 61,211,041 (GRCm39) S216P possibly damaging Het
Trappc2l A G 8: 123,341,132 (GRCm39) probably benign Het
Trim67 A G 8: 125,549,929 (GRCm39) R520G probably damaging Het
Ubp1 T A 9: 113,795,655 (GRCm39) probably null Het
Vil1 T C 1: 74,465,853 (GRCm39) L548P probably damaging Het
Wdr3 A G 3: 100,052,973 (GRCm39) V593A probably damaging Het
Wdr5 A G 2: 27,423,025 (GRCm39) Y243C probably damaging Het
Zan T C 5: 137,420,084 (GRCm39) T2858A unknown Het
Zbtb37 A T 1: 160,847,939 (GRCm39) V356E probably benign Het
Zfp36 C T 7: 28,077,759 (GRCm39) V50I probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Other mutations in Pgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00846:Pgap1 APN 1 54,531,180 (GRCm39) splice site probably benign
IGL01111:Pgap1 APN 1 54,570,102 (GRCm39) missense probably benign 0.17
IGL01406:Pgap1 APN 1 54,572,573 (GRCm39) splice site probably null
IGL01592:Pgap1 APN 1 54,560,470 (GRCm39) missense probably damaging 1.00
IGL02005:Pgap1 APN 1 54,590,214 (GRCm39) missense probably damaging 0.99
IGL02026:Pgap1 APN 1 54,533,978 (GRCm39) missense probably benign 0.05
IGL02086:Pgap1 APN 1 54,587,147 (GRCm39) missense probably damaging 1.00
IGL02354:Pgap1 APN 1 54,551,975 (GRCm39) missense probably benign 0.02
IGL02361:Pgap1 APN 1 54,551,975 (GRCm39) missense probably benign 0.02
IGL02995:Pgap1 APN 1 54,532,509 (GRCm39) missense probably benign 0.19
IGL03012:Pgap1 APN 1 54,572,572 (GRCm39) splice site probably benign
R0044:Pgap1 UTSW 1 54,532,527 (GRCm39) missense probably damaging 1.00
R0109:Pgap1 UTSW 1 54,533,984 (GRCm39) missense probably damaging 1.00
R0109:Pgap1 UTSW 1 54,533,984 (GRCm39) missense probably damaging 1.00
R0241:Pgap1 UTSW 1 54,575,110 (GRCm39) splice site probably null
R0352:Pgap1 UTSW 1 54,525,617 (GRCm39) splice site probably benign
R1297:Pgap1 UTSW 1 54,567,682 (GRCm39) missense possibly damaging 0.94
R1429:Pgap1 UTSW 1 54,534,020 (GRCm39) missense probably benign 0.01
R1465:Pgap1 UTSW 1 54,567,714 (GRCm39) missense probably benign 0.11
R1465:Pgap1 UTSW 1 54,567,714 (GRCm39) missense probably benign 0.11
R1542:Pgap1 UTSW 1 54,531,249 (GRCm39) missense probably benign 0.16
R1816:Pgap1 UTSW 1 54,531,216 (GRCm39) missense probably damaging 0.99
R1817:Pgap1 UTSW 1 54,575,128 (GRCm39) missense probably benign 0.15
R1905:Pgap1 UTSW 1 54,551,120 (GRCm39) missense probably benign 0.26
R2006:Pgap1 UTSW 1 54,590,220 (GRCm39) missense possibly damaging 0.76
R3551:Pgap1 UTSW 1 54,569,302 (GRCm39) missense possibly damaging 0.89
R3833:Pgap1 UTSW 1 54,596,624 (GRCm39) missense probably damaging 0.99
R3901:Pgap1 UTSW 1 54,532,507 (GRCm39) missense probably benign
R4487:Pgap1 UTSW 1 54,567,751 (GRCm39) missense probably benign 0.26
R4874:Pgap1 UTSW 1 54,569,296 (GRCm39) missense probably damaging 0.96
R5184:Pgap1 UTSW 1 54,521,015 (GRCm39) missense probably damaging 1.00
R6181:Pgap1 UTSW 1 54,551,936 (GRCm39) missense probably benign 0.05
R6212:Pgap1 UTSW 1 54,554,052 (GRCm39) missense probably damaging 0.99
R6269:Pgap1 UTSW 1 54,587,167 (GRCm39) nonsense probably null
R6525:Pgap1 UTSW 1 54,521,048 (GRCm39) missense probably benign 0.00
R6944:Pgap1 UTSW 1 54,569,320 (GRCm39) missense probably damaging 1.00
R7214:Pgap1 UTSW 1 54,582,220 (GRCm39) missense possibly damaging 0.47
R7256:Pgap1 UTSW 1 54,532,366 (GRCm39) critical splice donor site probably null
R7290:Pgap1 UTSW 1 54,587,225 (GRCm39) missense possibly damaging 0.45
R7356:Pgap1 UTSW 1 54,569,293 (GRCm39) missense probably benign 0.10
R7525:Pgap1 UTSW 1 54,570,081 (GRCm39) missense probably benign 0.26
R7602:Pgap1 UTSW 1 54,582,345 (GRCm39) missense probably damaging 1.00
R7897:Pgap1 UTSW 1 54,590,167 (GRCm39) missense probably damaging 1.00
R8278:Pgap1 UTSW 1 54,529,430 (GRCm39) missense probably benign
R9189:Pgap1 UTSW 1 54,519,908 (GRCm39) missense probably benign 0.31
R9238:Pgap1 UTSW 1 54,550,570 (GRCm39) missense probably benign
R9428:Pgap1 UTSW 1 54,575,206 (GRCm39) missense probably damaging 1.00
R9479:Pgap1 UTSW 1 54,582,275 (GRCm39) nonsense probably null
X0025:Pgap1 UTSW 1 54,521,029 (GRCm39) missense probably benign 0.26
X0060:Pgap1 UTSW 1 54,575,193 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTCCTGTATCAGAAATCACTCACTGACC -3'
(R):5'- AAGCATTGTTGCATGAAATGGCTTGT -3'

Sequencing Primer
(F):5'- ggagtgggtgggtaggg -3'
(R):5'- GCATGAAATGGCTTGTTTTTCAG -3'
Posted On 2013-07-11