Incidental Mutation 'R6269:Pgap1'
ID 507197
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 044440-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.764) question?
Stock # R6269 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 54512159-54596843 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 54587167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 136 (Y136*)
Ref Sequence ENSEMBL: ENSMUSP00000095346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097739]
AlphaFold Q3UUQ7
Predicted Effect probably null
Transcript: ENSMUST00000097739
AA Change: Y136*
SMART Domains Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678
AA Change: Y136*

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,941,033 (GRCm39) I609N unknown Het
Ano10 A T 9: 122,090,308 (GRCm39) I277N probably damaging Het
Ap2b1 A G 11: 83,237,499 (GRCm39) D483G probably damaging Het
As3mt T A 19: 46,708,391 (GRCm39) F226Y probably damaging Het
Atp10a G A 7: 58,453,487 (GRCm39) R855H possibly damaging Het
Bin3 T A 14: 70,374,611 (GRCm39) H213Q probably benign Het
Bora T C 14: 99,311,103 (GRCm39) C512R probably damaging Het
Camk2b T A 11: 5,928,497 (GRCm39) D414V probably damaging Het
Ccdc27 A T 4: 154,122,179 (GRCm39) L233Q unknown Het
Ccdc73 T C 2: 104,737,978 (GRCm39) S25P probably damaging Het
Cenpf G A 1: 189,392,117 (GRCm39) H572Y probably benign Het
Chil4 A G 3: 106,111,487 (GRCm39) V209A probably damaging Het
Clstn1 T C 4: 149,728,524 (GRCm39) V650A probably benign Het
Cox6a2 T A 7: 127,805,437 (GRCm39) S11C probably benign Het
Csf1 T C 3: 107,656,317 (GRCm39) E238G probably benign Het
Cyp2c23 T A 19: 44,017,626 (GRCm39) M1L unknown Het
Cyp4a10 T A 4: 115,381,509 (GRCm39) M191K probably damaging Het
Cyp4a14 A G 4: 115,348,328 (GRCm39) V383A possibly damaging Het
D130052B06Rik T G 11: 33,573,916 (GRCm39) V171G possibly damaging Het
Dlgap2 A G 8: 14,872,369 (GRCm39) T617A probably benign Het
Dyrk4 T A 6: 126,863,690 (GRCm39) I351F probably damaging Het
Epg5 T C 18: 77,991,585 (GRCm39) V94A probably benign Het
Fam111a A G 19: 12,565,807 (GRCm39) T519A probably benign Het
Gdpd4 A G 7: 97,623,669 (GRCm39) S314G probably damaging Het
Gm9758 T A 5: 14,962,274 (GRCm39) K111N possibly damaging Het
Gpr137b A T 13: 13,538,096 (GRCm39) V285E probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Itgal T A 7: 126,929,389 (GRCm39) L1102Q probably null Het
Kctd19 T A 8: 106,121,992 (GRCm39) Y185F possibly damaging Het
Kif5b A G 18: 6,223,558 (GRCm39) L317P possibly damaging Het
Klhl42 C A 6: 146,993,805 (GRCm39) A259E probably damaging Het
Lrrc2 A G 9: 110,810,017 (GRCm39) D351G probably damaging Het
Med12l A G 3: 59,135,243 (GRCm39) E797G probably damaging Het
Mink1 A G 11: 70,489,813 (GRCm39) E63G probably damaging Het
Nek9 T C 12: 85,379,103 (GRCm39) probably null Het
Or12e8 A T 2: 87,677,218 (GRCm39) H201L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Parp6 G A 9: 59,557,295 (GRCm39) V627I probably benign Het
Pclo C T 5: 14,572,108 (GRCm39) Q498* probably null Het
Pdlim5 T C 3: 142,018,086 (GRCm39) T170A possibly damaging Het
Pgghg T A 7: 140,526,097 (GRCm39) N563K probably damaging Het
Plxnb2 A G 15: 89,044,916 (GRCm39) M1143T probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prc1 G A 7: 79,959,175 (GRCm39) R381Q probably damaging Het
Psph A T 5: 129,843,529 (GRCm39) I175N probably damaging Het
Rbbp8nl T A 2: 179,923,305 (GRCm39) K131* probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sde2 G A 1: 180,683,371 (GRCm39) V42I probably benign Het
Slc25a3 G A 10: 90,952,963 (GRCm39) R314* probably null Het
Spag9 A G 11: 93,935,333 (GRCm39) N48S probably benign Het
Srp54b T C 12: 55,302,757 (GRCm39) M351T possibly damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcaf2 A G 6: 42,604,342 (GRCm39) L679P probably damaging Het
Tnrc6b T A 15: 80,764,944 (GRCm39) N815K probably benign Het
Usp17la A T 7: 104,509,557 (GRCm39) Q54L possibly damaging Het
Vmn2r92 T A 17: 18,387,036 (GRCm39) I125K probably benign Het
Xrra1 T C 7: 99,566,679 (GRCm39) Y732H probably damaging Het
Zfp131 A G 13: 120,227,941 (GRCm39) S603P possibly damaging Het
Zfp28 G T 7: 6,396,612 (GRCm39) S349I probably benign 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
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
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'- TGCTGATAAGGCTAACTCCTTTTC -3'
(R):5'- ATGAAGTCAGATGCTTTCCCAG -3'

Sequencing Primer
(F):5'- ATAAGGCTAACTCCTTTTCTTGGTTC -3'
(R):5'- CAGATGCTTTCCCAGGATGTTG -3'
Posted On 2018-03-15