Incidental Mutation 'R3017:Pitpna'
ID 257671
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: 0.791) question?
Stock # R3017 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75478923-75519630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75483016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 8 (R8W)
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: R8W

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099567
Gene: ENSMUSG00000017781
AA Change: R8W

DomainStartEndE-ValueType
Pfam:IP_trans 2 99 1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142068
Predicted Effect probably damaging
Transcript: ENSMUST00000143219
AA Change: R8W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115723
Gene: ENSMUSG00000017781
AA Change: R8W

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 4.7e-147 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179445
AA Change: R8W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137601
Gene: ENSMUSG00000017781
AA Change: R8W

DomainStartEndE-ValueType
Pfam:IP_trans 2 255 6.7e-146 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179521
AA Change: R8W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137510
Gene: ENSMUSG00000017781
AA Change: R8W

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.2e-123 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.4%
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: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T C 1: 58,274,363 (GRCm39) V383A probably benign Het
Aplp1 A T 7: 30,135,396 (GRCm39) probably null Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Gmnc G A 16: 26,779,165 (GRCm39) H281Y probably benign Het
Gusb T C 5: 130,029,325 (GRCm39) D152G probably damaging Het
Kcnk4 A T 19: 6,905,162 (GRCm39) V163E probably damaging Het
Lcmt1 T G 7: 123,029,359 (GRCm39) L327W probably damaging Het
Med18 G A 4: 132,187,128 (GRCm39) R124C probably damaging Het
Odf1 A G 15: 38,226,675 (GRCm39) T192A unknown Het
Pkn1 A G 8: 84,396,799 (GRCm39) Y951H probably benign Het
Rad18 T C 6: 112,658,327 (GRCm39) T193A possibly damaging Het
Ruvbl2 G T 7: 45,071,588 (GRCm39) L432I probably damaging Het
Slco1a4 T C 6: 141,758,396 (GRCm39) probably null Het
Tlr11 T A 14: 50,600,178 (GRCm39) C721* probably null Het
Tubgcp6 A T 15: 88,987,285 (GRCm39) C1229* probably null Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null 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
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'- TGTGCTGAATCACAGGGTTC -3'
(R):5'- GCTTGAAACTGACTGTGCCC -3'

Sequencing Primer
(F):5'- CACAGGGTTCTAAATGGGATTCC -3'
(R):5'- TGAAACTGACTGTGCCCAGGTC -3'
Posted On 2015-01-11