Incidental Mutation 'IGL02388:Pitpnb'
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
Chromosomal Location111330763-111388359 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111330833 bp
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

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

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