Incidental Mutation 'R0352:Pgap1'
ID 65379
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 038558-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.764) question?
Stock # R0352 (G1)
Quality Score 93
Status Validated
Chromosome 1
Chromosomal Location 54512159-54596843 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 54525617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097739]
AlphaFold Q3UUQ7
Predicted Effect probably benign
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.0%
Validation Efficiency 100% (70/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,184,804 (GRCm39) T64M possibly damaging Het
3110040N11Rik G T 7: 81,438,208 (GRCm39) N49K probably benign Het
Adrb1 T A 19: 56,711,293 (GRCm39) F164I probably damaging Het
Aplf C T 6: 87,630,866 (GRCm39) V190I probably benign Het
Aqr A G 2: 114,000,533 (GRCm39) Y50H probably damaging Het
Arfgef3 A C 10: 18,537,135 (GRCm39) I182R probably benign Het
Cacna1b G A 2: 24,515,244 (GRCm39) probably benign Het
Casp9 A G 4: 141,532,841 (GRCm39) T246A probably damaging Het
Clcn6 A G 4: 148,099,063 (GRCm39) S427P probably damaging Het
Cnga1 T C 5: 72,761,846 (GRCm39) N556S possibly damaging Het
Cntnap2 G A 6: 45,969,018 (GRCm39) probably null Het
Col11a2 T G 17: 34,261,501 (GRCm39) V120G probably benign Het
Cux2 A C 5: 122,022,802 (GRCm39) probably benign Het
Dmrt2 T C 19: 25,656,026 (GRCm39) S542P probably damaging Het
Dnah7b A G 1: 46,316,286 (GRCm39) H3133R probably damaging Het
Drosha G A 15: 12,837,374 (GRCm39) R286Q unknown Het
Eipr1 A G 12: 28,816,784 (GRCm39) D47G probably damaging Het
Fras1 T G 5: 96,874,399 (GRCm39) Y2275D probably damaging Het
Grm4 C T 17: 27,670,865 (GRCm39) probably benign Het
Hebp1 A G 6: 135,129,918 (GRCm39) V100A possibly damaging Het
Hivep2 G A 10: 14,019,039 (GRCm39) V1937I possibly damaging Het
Hs3st6 T C 17: 24,977,168 (GRCm39) V216A probably damaging Het
Hsd17b4 T C 18: 50,324,851 (GRCm39) I688T probably benign Het
Hydin T C 8: 111,296,533 (GRCm39) probably null Het
Iws1 A G 18: 32,217,258 (GRCm39) E426G probably damaging Het
Klrb1f T C 6: 129,030,680 (GRCm39) S64P probably damaging Het
Lacc1 C T 14: 77,272,629 (GRCm39) G56R probably damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lipm C T 19: 34,090,275 (GRCm39) probably benign Het
Lum A G 10: 97,404,471 (GRCm39) H122R probably damaging Het
Magi2 A G 5: 20,270,664 (GRCm39) Y15C probably damaging Het
Mal A T 2: 127,482,286 (GRCm39) I39N probably damaging Het
Mgme1 A G 2: 144,118,319 (GRCm39) H197R probably benign Het
Mmrn1 A T 6: 60,921,955 (GRCm39) K137N probably benign Het
Myh3 T A 11: 66,981,254 (GRCm39) C706S possibly damaging Het
Myo18b A T 5: 113,022,389 (GRCm39) probably benign Het
Myom1 A G 17: 71,352,744 (GRCm39) E356G possibly damaging Het
Nfib A G 4: 82,422,954 (GRCm39) probably benign Het
Npc1l1 T C 11: 6,173,076 (GRCm39) M788V probably benign Het
Or9a2 C T 6: 41,749,058 (GRCm39) M58I probably damaging Het
Pdha2 A G 3: 140,917,457 (GRCm39) V17A probably benign Het
Polr1a G T 6: 71,897,747 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Pramel20 A T 4: 143,297,878 (GRCm39) probably benign Het
Pramel21 A T 4: 143,342,559 (GRCm39) D222V possibly damaging Het
Prmt2 A T 10: 76,044,337 (GRCm39) V405D possibly damaging Het
Psg26 T A 7: 18,209,181 (GRCm39) Y409F probably benign Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Ptges G T 2: 30,793,144 (GRCm39) Y29* probably null Het
Ptrhd1 A G 12: 4,286,399 (GRCm39) T97A probably benign Het
Ripk3 T A 14: 56,024,200 (GRCm39) probably benign Het
Rnf114 A T 2: 167,353,136 (GRCm39) I136F probably benign Het
Serinc5 A G 13: 92,844,497 (GRCm39) probably null Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc23a2 C A 2: 131,902,716 (GRCm39) M495I probably benign Het
Slc52a3 T A 2: 151,849,433 (GRCm39) L360* probably null Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syt5 A G 7: 4,544,170 (GRCm39) V290A probably benign Het
Szt2 G A 4: 118,239,790 (GRCm39) A1931V unknown Het
Tasp1 A G 2: 139,793,378 (GRCm39) probably null Het
Tcp10a C A 17: 7,593,805 (GRCm39) D43E probably damaging Het
Tnfsf11 A T 14: 78,516,408 (GRCm39) Y187N probably benign Het
Tppp2 T A 14: 52,156,807 (GRCm39) N61K possibly damaging Het
Wwtr1 A T 3: 57,482,548 (GRCm39) W100R probably damaging Het
Zfp623 A G 15: 75,820,433 (GRCm39) D463G probably benign Het
Zfp990 A G 4: 145,263,174 (GRCm39) I57M probably damaging Het
Zmat5 G A 11: 4,672,413 (GRCm39) C10Y probably 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
R0241:Pgap1 UTSW 1 54,575,110 (GRCm39) splice site probably null
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'- ACCTTCTCTGGCTGACTTCTGAAGATTA -3'
(R):5'- GTGGCGGGGTAAGGATTTTACAATGT -3'

Sequencing Primer
(F):5'- ACTGAACATGGAGCATCAGG -3'
(R):5'- acatagcaagtccacacctc -3'
Posted On 2013-08-08