Incidental Mutation 'R6602:Pitpna'
ID 525370
Institutional Source Beutler Lab
Gene Symbol Pitpna
Ensembl Gene ENSMUSG00000017781
Gene Name phosphatidylinositol transfer protein, alpha
Synonyms Pitp alpha, Pitpn
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R6602 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75478923-75519630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 75511141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 238 (V238G)
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

Pfam:IP_trans 2 99 1e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143219
AA Change: V237G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781
AA Change: V237G

Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153768
Predicted Effect possibly damaging
Transcript: ENSMUST00000179445
AA Change: V237G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781
AA Change: V237G

Pfam:IP_trans 2 255 6.7e-146 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179521
AA Change: V238G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781
AA Change: V238G

Pfam:IP_trans 2 254 3.2e-123 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik A G 8: 125,365,993 (GRCm39) L250P probably damaging Het
4921539E11Rik T C 4: 103,112,769 (GRCm39) H12R probably benign Het
Abca4 A C 3: 121,932,150 (GRCm39) Q268P probably benign Het
Adgrf5 T A 17: 43,761,195 (GRCm39) N963K probably benign Het
Arl10 A G 13: 54,726,750 (GRCm39) D176G probably damaging Het
Btnl1 T A 17: 34,604,722 (GRCm39) M501K probably damaging Het
Ccdc162 G T 10: 41,491,976 (GRCm39) T1079K probably benign Het
Cd163 T A 6: 124,288,594 (GRCm39) W342R probably damaging Het
Cd70 T C 17: 57,456,562 (GRCm39) S14G probably benign Het
Chil4 C A 3: 106,117,906 (GRCm39) K121N probably benign Het
Csf1r A G 18: 61,243,497 (GRCm39) D171G possibly damaging Het
Cyp4a31 A T 4: 115,426,904 (GRCm39) probably null Het
Dapk1 A T 13: 60,897,018 (GRCm39) I746F probably benign Het
Erbb4 A G 1: 68,409,662 (GRCm39) S192P probably damaging Het
Exoc8 C A 8: 125,623,150 (GRCm39) V406L probably damaging Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Greb1 A T 12: 16,759,441 (GRCm39) V652E probably benign Het
Ift88 A G 14: 57,744,716 (GRCm39) S745G probably benign Het
Il18bp T C 7: 101,665,237 (GRCm39) probably benign Het
Il6st A G 13: 112,640,947 (GRCm39) T908A probably damaging Het
Klk1b11 A G 7: 43,424,198 (GRCm39) S6G probably benign Het
Mastl T C 2: 23,022,689 (GRCm39) Y678C probably benign Het
Msra A T 14: 64,360,788 (GRCm39) H184Q probably benign Het
Muc16 A C 9: 18,520,772 (GRCm39) probably null Het
Myo3a T G 2: 22,467,799 (GRCm39) L351R probably damaging Het
Npy5r GCTGTGAAACACTG GCTG 8: 67,134,192 (GRCm39) probably null Het
Or4d2 T C 11: 87,784,478 (GRCm39) T91A probably benign Het
Or7d11 C T 9: 19,966,342 (GRCm39) R139Q probably benign Het
Or7g18 A G 9: 18,787,145 (GRCm39) D174G possibly damaging Het
Pcdhb18 A T 18: 37,623,533 (GRCm39) I288F probably damaging Het
Ppfibp1 T A 6: 146,879,719 (GRCm39) V81E possibly damaging Het
Rab11fip2 T A 19: 59,931,288 (GRCm39) T49S probably damaging Het
Rsl24d1 T A 9: 73,020,792 (GRCm39) I3N possibly damaging Het
Rtn1 T C 12: 72,266,092 (GRCm39) N161S probably damaging Het
Shank1 A G 7: 44,001,760 (GRCm39) I1151V probably benign Het
Slc34a3 A G 2: 25,119,221 (GRCm39) S550P probably damaging Het
Slc4a1ap A G 5: 31,684,985 (GRCm39) H207R probably damaging Het
Sphkap T A 1: 83,253,479 (GRCm39) K1423N possibly damaging Het
Ttn A G 2: 76,712,097 (GRCm39) probably benign Het
Ubqln5 T A 7: 103,778,696 (GRCm39) S43C probably benign Het
Vps13d G A 4: 144,830,234 (GRCm39) probably benign Het
Wwp1 A T 4: 19,641,816 (GRCm39) V413D probably damaging Het
Zfp267 G T 3: 36,219,004 (GRCm39) L341F possibly 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
R6539:Pitpna UTSW 11 75,489,127 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2018-06-22