Incidental Mutation 'R9584:Pitpna'
ID 722712
Institutional Source Beutler Lab
Gene Symbol Pitpna
Ensembl Gene ENSMUSG00000017781
Gene Name phosphatidylinositol transfer protein, alpha
Synonyms Pitp alpha, Pitpn
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.786) question?
Stock # R9584 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 75478923-75519630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 75510368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 208 (N208K)
Ref Sequence ENSEMBL: ENSMUSP00000115723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102509] [ENSMUST00000143219] [ENSMUST00000179445] [ENSMUST00000179521]
AlphaFold P53810
PDB Structure Crystal Structure of Mouse PITP Alpha Void of Bound Phospholipid at 2.0 Angstroms Resolution [X-RAY DIFFRACTION]
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: N208K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781
AA Change: N208K

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179445
AA Change: N208K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781
AA Change: N208K

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 6.7e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179521
AA Change: N209K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781
AA Change: N209K

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.2e-123 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T G 13: 70,949,136 (GRCm39) D175A probably damaging Het
Ankhd1 A T 18: 36,798,504 (GRCm39) N635Y probably benign Het
Asxl2 T C 12: 3,550,667 (GRCm39) V803A possibly damaging Het
Brsk1 T A 7: 4,709,662 (GRCm39) S430T possibly damaging Het
Btbd8 A T 5: 107,658,347 (GRCm39) H1639L probably benign Het
Cacna2d2 T C 9: 107,277,404 (GRCm39) L46P probably damaging Het
Casz1 A G 4: 148,985,704 (GRCm39) probably benign Het
Catsper2 A T 2: 121,230,301 (GRCm39) N344K probably damaging Het
Ccdc80 A G 16: 44,915,675 (GRCm39) S144G probably damaging Het
Cdh10 A T 15: 18,992,095 (GRCm39) L451F probably benign Het
Chil6 A G 3: 106,301,672 (GRCm39) F143L probably damaging Het
Dock7 G A 4: 98,861,481 (GRCm39) R1379* probably null Het
Dop1a C A 9: 86,385,151 (GRCm39) L366I possibly damaging Het
Foxg1 G A 12: 49,432,406 (GRCm39) V380M possibly damaging Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hipk3 A G 2: 104,301,910 (GRCm39) V94A probably benign Het
Impg1 T C 9: 80,322,849 (GRCm39) H52R probably benign Het
Kcnv2 T C 19: 27,300,265 (GRCm39) S39P probably damaging Het
Knop1 G A 7: 118,447,709 (GRCm39) S417L unknown Het
Muc1 C T 3: 89,138,373 (GRCm39) T405I probably benign Het
Nlrp2 C A 7: 5,322,215 (GRCm39) D811Y probably damaging Het
Nvl A G 1: 180,958,431 (GRCm39) L206S probably benign Het
Or5ac19 A G 16: 59,089,580 (GRCm39) L150S probably benign Het
Or8g17 G A 9: 38,930,462 (GRCm39) A125V probably damaging Het
Orai3 G T 7: 127,373,177 (GRCm39) R226L probably benign Het
Pacs1 T C 19: 5,322,622 (GRCm39) M99V probably benign Het
Pag1 A G 3: 9,761,214 (GRCm39) S298P probably damaging Het
Pde4c T C 8: 71,200,728 (GRCm39) V419A probably benign Het
Pnpo C A 11: 96,831,705 (GRCm39) E114* probably null Het
Pou5f2 A G 13: 78,173,592 (GRCm39) E178G possibly damaging Het
Psph G A 5: 129,847,752 (GRCm39) R65C probably damaging Het
Sgsh T C 11: 119,241,789 (GRCm39) S106G possibly damaging Het
Synrg A G 11: 83,900,200 (GRCm39) K724R probably damaging Het
Tet1 A T 10: 62,655,306 (GRCm39) F1538L probably damaging Het
Thada G A 17: 84,733,605 (GRCm39) T1014I probably benign Het
Topbp1 T C 9: 103,219,242 (GRCm39) W1165R probably damaging Het
Trrap G A 5: 144,777,330 (GRCm39) V3043M probably damaging Het
Tshz1 G A 18: 84,033,089 (GRCm39) H440Y probably damaging Het
Vwa8 A G 14: 79,394,549 (GRCm39) D1550G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AGGTACAAGTCACACCCTTGC -3'
(R):5'- GCATAGCAGAGCCTTTCCTG -3'

Sequencing Primer
(F):5'- CACATTGTGGGTGGGCCTC -3'
(R):5'- TCACATGTGCTGCCCGTAGAG -3'
Posted On 2022-08-09