Incidental Mutation 'R0111:Pitpna'
ID 20467
Institutional Source Beutler Lab
Gene Symbol Pitpna
Ensembl Gene ENSMUSG00000017781
Gene Name phosphatidylinositol transfer protein, alpha
Synonyms Pitp alpha, Pitpn
MMRRC Submission 038397-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.791) question?
Stock # R0111 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 75478923-75519630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75516310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 265 (V265A)
Ref Sequence ENSEMBL: ENSMUSP00000137510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000179445] [ENSMUST00000179521]
AlphaFold P53810
Predicted Effect probably benign
Transcript: ENSMUST00000102509
SMART Domains Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781

DomainStartEndE-ValueType
Pfam:IP_trans 2 99 1e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143219
AA Change: V264A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781
AA Change: V264A

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153768
Predicted Effect probably benign
Transcript: ENSMUST00000179445
AA Change: V264A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781
AA Change: V264A

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 6.7e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179521
AA Change: V265A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781
AA Change: V265A

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.2e-123 PFAM
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.8%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A T 17: 56,124,073 (GRCm39) H491L possibly damaging Het
Adgrg3 T C 8: 95,761,738 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,606,743 (GRCm39) probably benign Het
Asic1 T C 15: 99,594,864 (GRCm39) Y334H probably damaging Het
Calcr T A 6: 3,717,157 (GRCm39) D101V probably damaging Het
Cdh2 A T 18: 16,907,566 (GRCm39) N57K probably benign Het
Clec4d C A 6: 123,245,006 (GRCm39) Y95* probably null Het
Cracr2a A G 6: 127,581,024 (GRCm39) T67A probably benign Het
Dennd5a A T 7: 109,533,961 (GRCm39) V53D probably damaging Het
Dnah7a T C 1: 53,507,843 (GRCm39) D3076G probably benign Het
Espnl T C 1: 91,272,464 (GRCm39) M608T probably benign Het
Fam149a C T 8: 45,794,183 (GRCm39) probably benign Het
Flnc T C 6: 29,454,339 (GRCm39) V1884A probably damaging Het
Helz2 A C 2: 180,879,595 (GRCm39) S674R probably benign Het
Hoxa2 T G 6: 52,141,467 (GRCm39) probably null Het
Ifi47 T A 11: 48,986,897 (GRCm39) N221K probably damaging Het
Ipo9 A G 1: 135,333,662 (GRCm39) V340A probably damaging Het
Kalrn A T 16: 33,851,960 (GRCm39) N373K probably damaging Het
Kif26a T C 12: 112,129,771 (GRCm39) probably benign Het
Kiss1r A G 10: 79,754,523 (GRCm39) T6A possibly damaging Het
Lama1 A T 17: 68,044,493 (GRCm39) I131F probably damaging Het
Nefm T C 14: 68,361,991 (GRCm39) D91G probably benign Het
Nos3 C T 5: 24,577,702 (GRCm39) T572I probably damaging Het
Notch2 T C 3: 98,046,077 (GRCm39) F1710L probably benign Het
Or13e8 T C 4: 43,696,648 (GRCm39) N175S probably damaging Het
Or6c6c T A 10: 129,541,146 (GRCm39) I133N probably damaging Het
Ostm1 T C 10: 42,555,254 (GRCm39) L92P probably damaging Het
Pcdh15 T A 10: 74,462,651 (GRCm39) Y1445* probably null Het
Pde1b T C 15: 103,411,940 (GRCm39) S14P probably benign Het
Plec G T 15: 76,062,846 (GRCm39) T2476K probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppp3cc C T 14: 70,493,808 (GRCm39) probably null Het
Prss36 A G 7: 127,533,717 (GRCm39) L530P probably damaging Het
Ptpn13 T C 5: 103,728,629 (GRCm39) probably benign Het
Ptpn23 T C 9: 110,214,691 (GRCm39) D1570G probably damaging Het
Rab42 T C 4: 132,029,676 (GRCm39) D182G possibly damaging Het
Rbm27 T A 18: 42,438,737 (GRCm39) probably benign Het
Rp1 T C 1: 4,414,983 (GRCm39) E2043G probably damaging Het
Rufy3 C T 5: 88,778,443 (GRCm39) S341F probably damaging Het
Samd9l C T 6: 3,374,946 (GRCm39) V772I possibly damaging Het
Scaper A G 9: 55,510,074 (GRCm39) M654T probably benign Het
Shld2 T C 14: 33,989,686 (GRCm39) K407E probably damaging Het
Sipa1l3 G A 7: 29,047,743 (GRCm39) P333S probably damaging Het
Slc30a10 C A 1: 185,187,744 (GRCm39) R162S probably benign Het
Spryd3 A T 15: 102,036,972 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,166 (GRCm39) F66L probably benign Het
Tent5c T C 3: 100,380,102 (GRCm39) D218G probably damaging Het
Thap2 T C 10: 115,208,532 (GRCm39) N196S probably benign Het
Themis2 C A 4: 132,517,236 (GRCm39) R88L probably benign Het
Trip12 A T 1: 84,736,854 (GRCm39) probably benign Het
Ube3b T A 5: 114,528,437 (GRCm39) probably benign Het
Usp20 T A 2: 30,892,624 (GRCm39) H64Q probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r15 T C 5: 109,435,022 (GRCm39) R561G possibly damaging Het
Vsig10l A G 7: 43,117,525 (GRCm39) D604G probably damaging Het
Wdr90 A G 17: 26,067,418 (GRCm39) probably benign Het
Xirp2 A T 2: 67,338,722 (GRCm39) N321I probably damaging Het
Zfp595 A G 13: 67,468,984 (GRCm39) F11S possibly damaging Het
Zfp953 T A 13: 67,491,139 (GRCm39) H271L probably damaging Het
Other mutations in Pitpna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Pitpna APN 11 75,503,076 (GRCm39) missense probably benign
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
R6539:Pitpna UTSW 11 75,489,127 (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'- GGATCTTCAGTTCACCCAGGCTGT -3'
(R):5'- CAGTCCTAGAGTGCCAGATGAGGAA -3'

Sequencing Primer
(F):5'- ttgggaggcagaggtgg -3'
(R):5'- GAATGAAGTAGGTTTTCTCATTTCAC -3'
Posted On 2013-04-11