Incidental Mutation 'IGL02388:Pitpnb'
ID291610
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Namephosphatidylinositol transfer protein, beta
SynonymsPitp beta
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02388
Quality Score
Status
Chromosome5
Chromosomal Location111330763-111388359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111330833 bp
ZygosityHeterozygous
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]
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: 66,896,113 probably benign Het
9230019H11Rik A T 10: 3,125,050 noncoding transcript Het
Abca8a A G 11: 110,078,815 probably benign Het
Asphd1 A T 7: 126,946,712 probably benign Het
Ccdc77 G A 6: 120,331,897 A301V probably benign Het
Cep350 G T 1: 155,953,753 T135K probably benign Het
Chrna7 A T 7: 63,107,691 D153E probably damaging Het
Clec4b2 G T 6: 123,202,228 probably null Het
Cyp2c67 T C 19: 39,643,355 N133D probably benign Het
Dglucy T C 12: 100,856,998 I484T probably damaging Het
Dtna G T 18: 23,597,514 M319I probably benign Het
E2f5 T A 3: 14,588,280 M152K probably benign Het
Emsy A T 7: 98,641,666 M58K probably damaging Het
Epha1 A G 6: 42,365,016 Y367H probably damaging Het
Etv1 A G 12: 38,781,799 S32G possibly damaging Het
Fam114a1 A T 5: 65,008,980 probably benign Het
Fbxo30 T A 10: 11,290,378 N281K probably benign Het
Galnt12 G T 4: 47,117,941 R412L probably damaging Het
Gm5786 T A 12: 59,081,596 noncoding transcript Het
Gm9845 T C 3: 39,358,467 noncoding transcript Het
Hecw2 A G 1: 53,925,699 V656A probably benign Het
Hpse2 A T 19: 43,294,253 V187D probably damaging Het
Itsn2 T A 12: 4,629,557 M122K possibly damaging Het
Kcnj11 A G 7: 46,099,789 S37P probably benign Het
Kif13b T C 14: 64,800,358 I1491T probably damaging Het
Krt36 T A 11: 100,105,164 K145* probably null Het
Loxhd1 A G 18: 77,369,137 I499V probably benign Het
Map3k4 G T 17: 12,271,610 N311K probably damaging Het
Mical2 C A 7: 112,335,413 H880N probably benign Het
Myo1d A T 11: 80,637,997 C666* probably null Het
Nlrx1 C T 9: 44,264,005 R158H probably benign Het
Olfr1115 T A 2: 87,251,951 Y5N probably benign Het
Olfr1251 T C 2: 89,666,972 S305G probably benign Het
Olfr1494 C A 19: 13,749,630 H175N possibly damaging Het
Olfr380 A T 11: 73,453,280 L311I probably benign Het
Olfr45 A G 7: 140,691,111 T69A probably benign Het
Pdgfrl A G 8: 40,977,057 R154G probably benign Het
Ppm1n G A 7: 19,279,172 R285C probably damaging Het
Prdm11 A T 2: 92,975,612 I331N possibly damaging Het
Ptprb C T 10: 116,367,521 P2066L probably damaging Het
Ric8b T C 10: 84,992,271 probably benign Het
Setx A G 2: 29,173,653 I2320M probably damaging Het
Skil C A 3: 31,111,638 S368* probably null Het
Slc1a5 G T 7: 16,785,719 probably null Het
Trpm7 A C 2: 126,819,891 V1079G possibly damaging Het
Tulp1 A G 17: 28,358,659 F2L probably damaging Het
Zbtb17 A G 4: 141,461,913 Y48C probably damaging Het
Zfp605 T A 5: 110,127,640 I208N possibly damaging Het
Other mutations in Pitpnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pitpnb APN 5 111338356 missense probably damaging 1.00
IGL03124:Pitpnb APN 5 111330830 missense possibly damaging 0.55
R0349:Pitpnb UTSW 5 111347126 missense possibly damaging 0.74
R4276:Pitpnb UTSW 5 111371392 splice site probably null
R4589:Pitpnb UTSW 5 111371348 missense probably damaging 1.00
R4702:Pitpnb UTSW 5 111371352 missense probably benign 0.00
R4888:Pitpnb UTSW 5 111382996 missense possibly damaging 0.89
R5048:Pitpnb UTSW 5 111383003 missense possibly damaging 0.47
R6154:Pitpnb UTSW 5 111338397 nonsense probably null
X0022:Pitpnb UTSW 5 111349540 missense probably damaging 1.00
Posted On2015-04-16