Incidental Mutation 'IGL01148:Pitpnb'
ID 51224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Name phosphatidylinositol transfer protein, beta
Synonyms Pitp beta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01148
Quality Score
Status
Chromosome 5
Chromosomal Location 111478629-111536225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111486222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 42 (V42D)
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
AlphaFold P53811
Predicted Effect probably damaging
Transcript: ENSMUST00000086635
AA Change: V42D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: V42D

DomainStartEndE-ValueType
Pfam:IP_trans 2 252 2.4e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200298
AA Change: V42D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: V42D

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.9e-145 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded protein catalyzes the transfer of phospholipids (phosphatidylinositol and phosphatidylcholine) between membranes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mice die before E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A T 11: 69,781,729 (GRCm39) C64* probably null Het
Ccng2 G A 5: 93,418,746 (GRCm39) D124N probably damaging Het
Cttnbp2 G A 6: 18,382,817 (GRCm39) P1317L probably damaging Het
Dsg1a T A 18: 20,453,982 (GRCm39) V29E probably damaging Het
Exoc6b T C 6: 84,885,208 (GRCm39) K244E probably benign Het
Fastkd5 A G 2: 130,456,605 (GRCm39) F662L probably benign Het
Fbxl18 T C 5: 142,871,580 (GRCm39) M488V probably damaging Het
Gas2l3 C T 10: 89,249,366 (GRCm39) G584D probably benign Het
Gm28042 T C 2: 119,869,519 (GRCm39) F405L possibly damaging Het
Gtf3c2 T C 5: 31,317,168 (GRCm39) K635E probably damaging Het
H2-Q2 A G 17: 35,561,654 (GRCm39) Y48C probably damaging Het
Hddc2 T C 10: 31,192,330 (GRCm39) I78T probably damaging Het
Hspg2 T A 4: 137,273,969 (GRCm39) M2708K probably benign Het
Ift88 T C 14: 57,677,189 (GRCm39) S119P probably benign Het
Mta2 T C 19: 8,925,668 (GRCm39) C388R probably damaging Het
Mymx G T 17: 45,912,594 (GRCm39) probably benign Het
Naga A G 15: 82,214,861 (GRCm39) Y366H possibly damaging Het
Nlrp9a A G 7: 26,257,006 (GRCm39) E208G probably damaging Het
Nr4a2 C T 2: 57,001,983 (GRCm39) V94M probably benign Het
Or4c124 G T 2: 89,156,368 (GRCm39) T52K probably benign Het
Osbpl8 G T 10: 111,112,424 (GRCm39) probably benign Het
Pitrm1 A G 13: 6,623,141 (GRCm39) R801G probably benign Het
Pthlh G A 6: 147,154,073 (GRCm39) T174M probably benign Het
Sco2 T C 15: 89,255,924 (GRCm39) I243M probably benign Het
Sema5a G A 15: 32,681,641 (GRCm39) V907M probably benign Het
Semp2l1 A G 1: 32,584,735 (GRCm39) S392P possibly damaging Het
Spata31e2 T C 1: 26,724,253 (GRCm39) E309G probably benign Het
Stac2 T A 11: 97,934,387 (GRCm39) K106* probably null Het
Tas2r105 T A 6: 131,663,815 (GRCm39) R204S probably damaging Het
Tgm5 A G 2: 120,877,156 (GRCm39) probably null Het
Trpm1 A G 7: 63,893,312 (GRCm39) I939V probably damaging Het
Ttll11 T A 2: 35,674,205 (GRCm39) N574I probably damaging Het
Zfand3 A T 17: 30,354,374 (GRCm39) T64S probably benign Het
Zfyve26 G A 12: 79,307,644 (GRCm39) H312Y probably benign Het
Other mutations in Pitpnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02388:Pitpnb APN 5 111,478,699 (GRCm39) missense possibly damaging 0.58
IGL03124:Pitpnb APN 5 111,478,696 (GRCm39) missense possibly damaging 0.55
R0349:Pitpnb UTSW 5 111,494,992 (GRCm39) missense possibly damaging 0.74
R4276:Pitpnb UTSW 5 111,519,258 (GRCm39) splice site probably null
R4589:Pitpnb UTSW 5 111,519,214 (GRCm39) missense probably damaging 1.00
R4702:Pitpnb UTSW 5 111,519,218 (GRCm39) missense probably benign 0.00
R4888:Pitpnb UTSW 5 111,530,862 (GRCm39) missense possibly damaging 0.89
R5048:Pitpnb UTSW 5 111,530,869 (GRCm39) missense possibly damaging 0.47
R6154:Pitpnb UTSW 5 111,486,263 (GRCm39) nonsense probably null
R8554:Pitpnb UTSW 5 111,494,372 (GRCm39) missense probably benign 0.00
R9158:Pitpnb UTSW 5 111,530,876 (GRCm39) missense probably damaging 0.98
R9251:Pitpnb UTSW 5 111,533,390 (GRCm39) missense probably benign 0.20
R9353:Pitpnb UTSW 5 111,530,891 (GRCm39) missense probably damaging 1.00
X0022:Pitpnb UTSW 5 111,497,406 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21