Incidental Mutation 'R6539:Pitpna'
ID 520616
Institutional Source Beutler Lab
Gene Symbol Pitpna
Ensembl Gene ENSMUSG00000017781
Gene Name phosphatidylinositol transfer protein, alpha
Synonyms Pitp alpha, Pitpn
MMRRC Submission 044665-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.791) question?
Stock # R6539 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75478923-75519630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75489127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 58 (Y58C)
Ref Sequence ENSEMBL: ENSMUSP00000137510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000179445] [ENSMUST00000179521]
AlphaFold P53810
Predicted Effect probably damaging
Transcript: ENSMUST00000102509
AA Change: Y58C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781
AA Change: Y58C

DomainStartEndE-ValueType
Pfam:IP_trans 2 99 1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142068
Predicted Effect probably damaging
Transcript: ENSMUST00000143219
AA Change: Y58C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781
AA Change: Y58C

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179445
AA Change: Y58C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781
AA Change: Y58C

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 6.7e-146 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179521
AA Change: Y58C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781
AA Change: Y58C

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.2e-123 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate by phosphoinositide-3-kinase. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutations of this gene result in motor coordination abnormalities and early death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,272,616 (GRCm39) A513V possibly damaging Het
Ano8 T C 8: 71,937,127 (GRCm39) D147G probably damaging Het
Apba1 A G 19: 23,913,924 (GRCm39) D649G probably damaging Het
Atp6v0d1 T C 8: 106,251,606 (GRCm39) I329V probably benign Het
Card6 T A 15: 5,134,873 (GRCm39) N110I probably damaging Het
Cfap410 A G 10: 77,820,322 (GRCm39) T231A probably benign Het
Chn2 T A 6: 54,150,446 (GRCm39) probably null Het
Cyp46a1 G A 12: 108,319,416 (GRCm39) probably null Het
Daam2 T A 17: 49,776,739 (GRCm39) H782L probably damaging Het
Defa26 A G 8: 22,108,262 (GRCm39) I22V possibly damaging Het
Dlk1 A G 12: 109,426,245 (GRCm39) M278V probably benign Het
Dync2h1 T C 9: 7,159,478 (GRCm39) probably null Het
Ehmt1 T A 2: 24,694,779 (GRCm39) H1056L probably damaging Het
Ephb3 G A 16: 21,040,218 (GRCm39) D527N probably benign Het
Flt1 T C 5: 147,515,186 (GRCm39) K1079E probably benign Het
Fndc3b C T 3: 27,592,206 (GRCm39) G231R probably benign Het
Gm4924 T A 10: 82,214,358 (GRCm39) probably benign Het
Ifrd1 G A 12: 40,253,434 (GRCm39) A426V probably damaging Het
Ift140 T C 17: 25,313,643 (GRCm39) L1358P possibly damaging Het
Igkv5-37 A T 6: 69,940,800 (GRCm39) S16T probably benign Het
Map3k9 A G 12: 81,778,966 (GRCm39) L449P probably damaging Het
Mdm1 T C 10: 117,986,863 (GRCm39) probably null Het
Mmrn1 A T 6: 60,964,168 (GRCm39) T1056S probably benign Het
Mroh2b C T 15: 4,935,056 (GRCm39) H164Y probably damaging Het
Muc16 T C 9: 18,548,621 (GRCm39) T5891A probably benign Het
Nagpa T C 16: 5,021,565 (GRCm39) E62G possibly damaging Het
Nek10 T A 14: 14,860,789 (GRCm38) V475D possibly damaging Het
Or4c101 T C 2: 88,389,864 (GRCm39) F6S probably damaging Het
Or5ac15 A C 16: 58,940,114 (GRCm39) S106R probably damaging Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Parvg T A 15: 84,225,541 (GRCm39) D349E probably damaging Het
Ppp4r3b T A 11: 29,168,503 (GRCm39) D73E probably benign Het
Preb A G 5: 31,113,420 (GRCm39) V338A probably benign Het
Sec23a T C 12: 59,031,998 (GRCm39) T411A probably benign Het
Smc6 A G 12: 11,347,011 (GRCm39) probably null Het
Stxbp5l A G 16: 36,950,177 (GRCm39) M1056T probably damaging Het
Tbcd T A 11: 121,447,813 (GRCm39) probably null Het
Tent5a T C 9: 85,208,614 (GRCm39) I70V possibly damaging Het
Tpx2 G T 2: 152,718,518 (GRCm39) E174* probably null Het
Trpc4ap G T 2: 155,478,178 (GRCm39) P663T probably benign Het
Unc5cl G A 17: 48,772,045 (GRCm39) G441D probably damaging Het
Xrcc2 G T 5: 25,897,530 (GRCm39) R140S probably benign Het
Zfc3h1 G A 10: 115,247,907 (GRCm39) E1037K probably benign Het
Zfhx4 A T 3: 5,309,168 (GRCm39) Q798L probably damaging Het
Zfp94 G A 7: 24,002,716 (GRCm39) T236M probably damaging Het
Other mutations in Pitpna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Pitpna APN 11 75,503,076 (GRCm39) missense probably benign
R0111:Pitpna UTSW 11 75,516,310 (GRCm39) missense probably benign 0.03
R1854:Pitpna UTSW 11 75,499,929 (GRCm39) critical splice acceptor site probably null
R3017:Pitpna UTSW 11 75,483,016 (GRCm39) missense probably damaging 1.00
R4779:Pitpna UTSW 11 75,511,153 (GRCm39) missense possibly damaging 0.83
R5622:Pitpna UTSW 11 75,511,153 (GRCm39) missense possibly damaging 0.83
R5685:Pitpna UTSW 11 75,511,095 (GRCm39) missense probably damaging 1.00
R6602:Pitpna UTSW 11 75,511,141 (GRCm39) missense possibly damaging 0.94
R6937:Pitpna UTSW 11 75,494,557 (GRCm39) missense possibly damaging 0.79
R9584:Pitpna UTSW 11 75,510,368 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCCATGTGCAACTGTTGTG -3'
(R):5'- AATAGCTTCTAAGGACCGGGAG -3'

Sequencing Primer
(F):5'- CCATGTGCAACTGTTGTGAATAATGC -3'
(R):5'- CGAAAGGGTAACTGGGGCTAC -3'
Posted On 2018-06-06