Incidental Mutation 'R1816:Pgap1'
ID 204385
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 039844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.764) question?
Stock # R1816 (G1)
Quality Score 204
Status Validated
Chromosome 1
Chromosomal Location 54512159-54596843 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54531216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 753 (L753P)
Ref Sequence ENSEMBL: ENSMUSP00000095346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097739]
AlphaFold Q3UUQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000097739
AA Change: L753P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095346
Gene: ENSMUSG00000073678
AA Change: L753P

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
Meta Mutation Damage Score 0.7266 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.9%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,644,222 (GRCm39) Y721* probably null Het
4933405L10Rik T A 8: 106,436,491 (GRCm39) V220E possibly damaging Het
4933434E20Rik T C 3: 89,960,398 (GRCm39) V13A possibly damaging Het
Adam1b T G 5: 121,639,788 (GRCm39) Q419P probably damaging Het
Ankib1 A G 5: 3,784,028 (GRCm39) V316A probably benign Het
Anks1 T A 17: 28,205,547 (GRCm39) D294E probably damaging Het
Atr T C 9: 95,748,747 (GRCm39) S431P probably benign Het
Bfsp1 C T 2: 143,683,599 (GRCm39) A242T probably benign Het
Bptf A T 11: 106,951,405 (GRCm39) V279E probably damaging Het
Camkk2 A G 5: 122,872,243 (GRCm39) L540P probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Ceacam12 T A 7: 17,805,690 (GRCm39) probably null Het
Cntnap5a G T 1: 116,356,618 (GRCm39) A823S probably benign Het
Cp T C 3: 20,022,384 (GRCm39) probably benign Het
Dhx58 A G 11: 100,593,978 (GRCm39) V163A probably damaging Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Disp1 T A 1: 182,880,139 (GRCm39) D288V probably damaging Het
Dnah7a A G 1: 53,670,901 (GRCm39) probably benign Het
Eaf2 T G 16: 36,628,371 (GRCm39) probably benign Het
Efna1 T C 3: 89,183,694 (GRCm39) N44S possibly damaging Het
Etnppl T C 3: 130,428,211 (GRCm39) I462T probably benign Het
Fam83d G T 2: 158,610,070 (GRCm39) A13S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Fstl1 A G 16: 37,647,086 (GRCm39) probably null Het
Gm14226 A T 2: 154,867,549 (GRCm39) D502V probably damaging Het
Gm5117 T A 8: 32,228,986 (GRCm39) noncoding transcript Het
Gm973 A G 1: 59,621,558 (GRCm39) N566S probably damaging Het
Grm7 A T 6: 111,472,752 (GRCm39) K16* probably null Het
Hbb-bh2 G A 7: 103,489,585 (GRCm39) T17I possibly damaging Het
Htt C T 5: 34,961,084 (GRCm39) A237V probably benign Het
Itga6 T C 2: 71,671,153 (GRCm39) V665A probably benign Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Mki67 T C 7: 135,309,116 (GRCm39) D445G possibly damaging Het
Myo10 T C 15: 25,800,286 (GRCm39) V1454A probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Odam A G 5: 88,037,329 (GRCm39) probably null Het
Or1e33 T C 11: 73,738,025 (GRCm39) K309E probably benign Het
Or2ag13 A T 7: 106,472,695 (GRCm39) Y252* probably null Het
Or4p18 T G 2: 88,232,943 (GRCm39) I112L possibly damaging Het
Or5g29 G T 2: 85,421,269 (GRCm39) K128N probably benign Het
Or5p80 T C 7: 108,229,364 (GRCm39) L55P probably damaging Het
Or8k33 A T 2: 86,384,011 (GRCm39) C152* probably null Het
Pcm1 T A 8: 41,762,574 (GRCm39) S1412T probably damaging Het
Pi4k2b T C 5: 52,908,088 (GRCm39) S153P probably damaging Het
Pik3c2b C T 1: 133,029,108 (GRCm39) A1398V probably benign Het
Pkhd1l1 T C 15: 44,391,635 (GRCm39) I1567T possibly damaging Het
Rapgef6 G A 11: 54,585,314 (GRCm39) V1571I probably benign Het
Rfx2 C A 17: 57,115,305 (GRCm39) E5* probably null Het
Sh3tc1 C A 5: 35,857,928 (GRCm39) probably null Het
Slc22a12 G A 19: 6,592,683 (GRCm39) Q20* probably null Het
Slc4a1 A G 11: 102,242,056 (GRCm39) C861R probably damaging Het
Snrnp25 G A 11: 32,157,565 (GRCm39) V48I probably damaging Het
Spata1 G T 3: 146,186,962 (GRCm39) P211Q probably damaging Het
Srgap1 G A 10: 121,761,876 (GRCm39) Q91* probably null Het
Stab1 T C 14: 30,879,422 (GRCm39) D686G probably benign Het
Stx8 T A 11: 67,902,152 (GRCm39) M112K possibly damaging Het
Tfap2b A T 1: 19,279,436 (GRCm39) K15N probably damaging Het
Thbs2 C A 17: 14,890,975 (GRCm39) D1052Y probably benign Het
Thbs2 T A 17: 14,890,976 (GRCm39) E1051D probably benign Het
Thoc2l A G 5: 104,665,700 (GRCm39) D74G probably benign Het
Tlr2 T C 3: 83,745,516 (GRCm39) Y189C probably damaging Het
Tmem268 C A 4: 63,483,947 (GRCm39) P55T possibly damaging Het
Tnpo3 T C 6: 29,557,016 (GRCm39) H745R probably benign Het
Trappc14 A G 5: 138,258,603 (GRCm39) V548A possibly damaging Het
Ube2s T C 7: 4,814,554 (GRCm39) N2S probably damaging Het
Ulk1 A G 5: 110,935,697 (GRCm39) Y39H probably damaging Het
Vmn1r49 G T 6: 90,049,785 (GRCm39) D72E possibly damaging Het
Vmn2r27 C A 6: 124,207,330 (GRCm39) G104* probably null Het
Vmn2r92 A G 17: 18,386,939 (GRCm39) I93V probably damaging Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zfp958 A T 8: 4,679,147 (GRCm39) I391F 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
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
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'- AATGCCACCTTTGCACCATC -3'
(R):5'- ATCAGCTCATGGATTGGAATGTCC -3'

Sequencing Primer
(F):5'- CAATTTTCTGATATAACAGAGGGCTG -3'
(R):5'- CTTGTGACATAAGGGATCCTCAGC -3'
Posted On 2014-06-23