Incidental Mutation 'IGL02388:Pitpnb'
ID 291610
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 # IGL02388
Quality Score
Status
Chromosome 5
Chromosomal Location 111478629-111536225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111478699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 7 (F7S)
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
AlphaFold P53811
Predicted Effect probably benign
Transcript: ENSMUST00000086635
AA Change: F7S

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: F7S

DomainStartEndE-ValueType
Pfam:IP_trans 2 252 2.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199221
Predicted Effect possibly damaging
Transcript: ENSMUST00000200298
AA Change: F7S

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: F7S

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,873,097 (GRCm39) probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Asphd1 A T 7: 126,545,884 (GRCm39) probably benign Het
Ccdc77 G A 6: 120,308,858 (GRCm39) A301V probably benign Het
Cep350 G T 1: 155,829,499 (GRCm39) T135K probably benign Het
Chrna7 A T 7: 62,757,439 (GRCm39) D153E probably damaging Het
Clec4b2 G T 6: 123,179,187 (GRCm39) probably null Het
Cyp2c67 T C 19: 39,631,799 (GRCm39) N133D probably benign Het
Dglucy T C 12: 100,823,257 (GRCm39) I484T probably damaging Het
Dtna G T 18: 23,730,571 (GRCm39) M319I probably benign Het
E2f5 T A 3: 14,653,340 (GRCm39) M152K probably benign Het
Emsy A T 7: 98,290,873 (GRCm39) M58K probably damaging Het
Epha1 A G 6: 42,341,950 (GRCm39) Y367H probably damaging Het
Etv1 A G 12: 38,831,798 (GRCm39) S32G possibly damaging Het
Fam114a1 A T 5: 65,166,323 (GRCm39) probably benign Het
Fbxo30 T A 10: 11,166,122 (GRCm39) N281K probably benign Het
Galnt12 G T 4: 47,117,941 (GRCm39) R412L probably damaging Het
Gm5786 T A 12: 59,128,382 (GRCm39) noncoding transcript Het
Gm9845 T C 3: 39,412,616 (GRCm39) noncoding transcript Het
Hecw2 A G 1: 53,964,858 (GRCm39) V656A probably benign Het
Hpse2 A T 19: 43,282,692 (GRCm39) V187D probably damaging Het
Itsn2 T A 12: 4,679,557 (GRCm39) M122K possibly damaging Het
Kcnj11 A G 7: 45,749,213 (GRCm39) S37P probably benign Het
Kif13b T C 14: 65,037,807 (GRCm39) I1491T probably damaging Het
Krt36 T A 11: 99,995,990 (GRCm39) K145* probably null Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mical2 C A 7: 111,934,620 (GRCm39) H880N probably benign Het
Myo1d A T 11: 80,528,823 (GRCm39) C666* probably null Het
Nlrx1 C T 9: 44,175,302 (GRCm39) R158H probably benign Het
Or10ag53 T A 2: 87,082,295 (GRCm39) Y5N probably benign Het
Or10q1 C A 19: 13,726,994 (GRCm39) H175N possibly damaging Het
Or13a17 A G 7: 140,271,024 (GRCm39) T69A probably benign Het
Or1e21 A T 11: 73,344,106 (GRCm39) L311I probably benign Het
Or4a78 T C 2: 89,497,316 (GRCm39) S305G probably benign Het
Pdgfrl A G 8: 41,430,094 (GRCm39) R154G probably benign Het
Ppm1n G A 7: 19,013,097 (GRCm39) R285C probably damaging Het
Prdm11 A T 2: 92,805,957 (GRCm39) I331N possibly damaging Het
Ptprb C T 10: 116,203,426 (GRCm39) P2066L probably damaging Het
Ric8b T C 10: 84,828,135 (GRCm39) probably benign Het
Setx A G 2: 29,063,665 (GRCm39) I2320M probably damaging Het
Skil C A 3: 31,165,787 (GRCm39) S368* probably null Het
Slc1a5 G T 7: 16,519,644 (GRCm39) probably null Het
Trpm7 A C 2: 126,661,811 (GRCm39) V1079G possibly damaging Het
Tulp1 A G 17: 28,577,633 (GRCm39) F2L probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Zbtb17 A G 4: 141,189,224 (GRCm39) Y48C probably damaging Het
Zfp605 T A 5: 110,275,506 (GRCm39) I208N possibly damaging Het
Other mutations in Pitpnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pitpnb APN 5 111,486,222 (GRCm39) missense probably damaging 1.00
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 2015-04-16