Incidental Mutation 'R0053:Pgap3'
Institutional Source Beutler Lab
Gene Symbol Pgap3
Ensembl Gene ENSMUSG00000038208
Gene Namepost-GPI attachment to proteins 3
SynonymsD430035D22Rik, Perld1, CAB2
MMRRC Submission 038347-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.285) question?
Stock #R0053 (G1)
Quality Score
Status Validated
Chromosomal Location98388677-98400490 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98391098 bp
Amino Acid Change Valine to Aspartic acid at position 129 (V129D)
Ref Sequence ENSEMBL: ENSMUSP00000119668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041301] [ENSMUST00000090827] [ENSMUST00000128897]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000041218
Predicted Effect probably benign
Transcript: ENSMUST00000041301
SMART Domains Protein: ENSMUSP00000035549
Gene: ENSMUSG00000038216

Pfam:NNMT_PNMT_TEMT 25 290 1.2e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090827
AA Change: V180D

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208
AA Change: V180D

signal peptide 1 23 N/A INTRINSIC
Pfam:Per1 54 306 6.3e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128058
Predicted Effect probably damaging
Transcript: ENSMUST00000128897
AA Change: V129D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119668
Gene: ENSMUSG00000038208
AA Change: V129D

signal peptide 1 23 N/A INTRINSIC
Pfam:Per1 51 96 6.2e-14 PFAM
Pfam:Per1 93 256 7.3e-59 PFAM
Meta Mutation Damage Score 0.0292 question?
Coding Region Coverage
  • 1x: 89.7%
  • 3x: 87.2%
  • 10x: 81.1%
  • 20x: 72.5%
Validation Efficiency 94% (72/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal head and tail morphology, growth retardation, limb glasping, altered T cell proliferation response and increased susceptibility to EAE. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T A 6: 149,327,590 D711E probably benign Het
5730559C18Rik C T 1: 136,227,550 V106I probably benign Het
Atp10b A G 11: 43,216,564 probably benign Het
AY761185 A T 8: 20,944,530 probably benign Het
BC048671 G A 6: 90,305,094 V78I probably benign Het
BC067074 T C 13: 113,368,489 W2051R probably benign Het
Cadm1 C T 9: 47,799,414 T205I probably damaging Het
Capn3 A G 2: 120,491,837 I413V possibly damaging Het
Cblb C T 16: 52,142,801 T369I probably damaging Het
Ccdc54 T A 16: 50,590,234 N223I probably benign Het
Cdc25c A G 18: 34,735,435 V294A probably benign Het
Cep170 A T 1: 176,782,380 S122T possibly damaging Het
Chd1 A G 17: 15,747,189 N849D probably damaging Het
Dst A G 1: 34,294,550 probably null Het
Fbxw9 T A 8: 85,064,454 L250Q probably damaging Het
Fry C A 5: 150,461,377 probably benign Het
Gm19993 A G 1: 19,835,048 Het
Gpr75 A T 11: 30,892,571 Q492L possibly damaging Het
Hc C T 2: 35,057,275 E76K probably benign Het
Hivep2 T C 10: 14,132,121 C1488R probably damaging Het
Insr A G 8: 3,155,683 S1369P probably damaging Het
Insrr A C 3: 87,800,452 D67A probably damaging Het
Irf2 T A 8: 46,818,851 Y158N probably benign Het
Izumo3 A T 4: 92,145,030 Y110N probably damaging Het
Katnbl1 A G 2: 112,404,241 R23G probably benign Het
Kif7 A G 7: 79,702,179 V945A probably benign Het
Lamb2 T A 9: 108,486,737 C987* probably null Het
Mmp14 T A 14: 54,438,652 probably benign Het
Mycbpap A G 11: 94,511,736 Y258H probably damaging Het
Nav3 A G 10: 109,766,917 probably benign Het
Nr5a1 C T 2: 38,694,166 G414R probably damaging Het
Parp10 T A 15: 76,242,246 L247F probably damaging Het
Pcsk6 C T 7: 65,983,703 probably benign Het
Plcb1 A G 2: 135,294,915 E310G probably benign Het
Plin3 T C 17: 56,279,892 D385G probably damaging Het
Pole A T 5: 110,293,340 D220V probably damaging Het
Rufy1 A T 11: 50,401,465 M499K probably benign Het
Scn1a T G 2: 66,299,775 D1232A probably benign Het
Sf3b1 G A 1: 55,000,373 Q698* probably null Het
Shprh A T 10: 11,194,372 probably null Het
Snd1 C A 6: 28,745,335 probably benign Het
Stab1 C T 14: 31,140,687 A2260T possibly damaging Het
Strn T C 17: 78,656,934 H687R possibly damaging Het
Tgfb3 A T 12: 86,077,829 I35N probably damaging Het
Tnks2 T C 19: 36,875,365 S166P probably damaging Het
Ttll9 A T 2: 152,962,506 probably benign Het
Tyw5 G A 1: 57,401,438 T55M probably damaging Het
Usp19 A G 9: 108,497,170 probably null Het
Wdfy3 A T 5: 101,844,614 M3384K probably damaging Het
Zfp13 A T 17: 23,576,148 I483N probably damaging Het
Other mutations in Pgap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Pgap3 APN 11 98397954 missense probably damaging 1.00
IGL03409:Pgap3 APN 11 98398938 missense possibly damaging 0.95
R0053:Pgap3 UTSW 11 98391098 missense probably damaging 1.00
R1185:Pgap3 UTSW 11 98391134 missense probably damaging 1.00
R1185:Pgap3 UTSW 11 98391134 missense probably damaging 1.00
R1185:Pgap3 UTSW 11 98391134 missense probably damaging 1.00
R1579:Pgap3 UTSW 11 98390053 missense probably benign
R1938:Pgap3 UTSW 11 98400214 critical splice donor site probably null
R2117:Pgap3 UTSW 11 98391107 missense probably damaging 0.99
R2367:Pgap3 UTSW 11 98391159 intron probably null
R3854:Pgap3 UTSW 11 98390812 missense possibly damaging 0.49
R4820:Pgap3 UTSW 11 98390474 missense probably damaging 1.00
R5208:Pgap3 UTSW 11 98398048 missense probably damaging 1.00
R5493:Pgap3 UTSW 11 98390714 missense possibly damaging 0.87
R5783:Pgap3 UTSW 11 98390464 missense probably benign
X0026:Pgap3 UTSW 11 98390479 missense possibly damaging 0.80
Posted On2013-01-08