Incidental Mutation 'R4276:Pitpnb'
ID322695
Institutional Source Beutler Lab
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Namephosphatidylinositol transfer protein, beta
SynonymsPitp beta
MMRRC Submission 041647-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4276 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location111330763-111388359 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 111371392 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
Predicted Effect probably null
Transcript: ENSMUST00000086635
SMART Domains Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017

DomainStartEndE-ValueType
Pfam:IP_trans 2 252 2.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196192
Predicted Effect probably null
Transcript: ENSMUST00000200298
SMART Domains Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.9e-145 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (46/47)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 C A 9: 26,978,449 Q316H probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 118,121,899 probably benign Het
Brix1 T C 15: 10,481,747 D101G possibly damaging Het
Cfap36 A G 11: 29,230,584 probably null Het
Chrnb3 A G 8: 27,393,751 N172S probably damaging Het
Csnk1e T C 15: 79,429,767 N37S probably damaging Het
Ern1 T C 11: 106,407,181 I705V probably benign Het
Gimap8 T C 6: 48,659,083 M594T probably benign Het
Gm6578 G A 6: 12,100,188 noncoding transcript Het
Gpc6 A G 14: 117,435,916 D195G probably damaging Het
Gpcpd1 T C 2: 132,540,287 K412E probably damaging Het
Insm1 C A 2: 146,222,968 H235N probably benign Het
Jmjd8 A G 17: 25,829,813 probably benign Het
Kbtbd8 T C 6: 95,126,933 V521A probably damaging Het
Kcna5 T C 6: 126,533,366 T600A probably damaging Het
Kctd6 G C 14: 8,222,806 R216P probably damaging Het
Lbx1 C A 19: 45,235,089 V47L probably benign Het
Mefv A T 16: 3,715,569 N279K probably benign Het
Mroh1 T G 15: 76,393,851 V24G probably damaging Het
Nt5c1b A G 12: 10,374,886 E142G probably damaging Het
Olfr1038-ps G A 2: 86,122,279 A119T probably damaging Het
Olfr1289 G T 2: 111,483,504 V25L probably damaging Het
Padi2 A G 4: 140,936,548 E404G possibly damaging Het
Plxna4 T C 6: 32,200,948 N1006S probably benign Het
Proc A G 18: 32,135,914 V6A probably benign Het
Prrc2c T A 1: 162,673,591 K1214N probably damaging Het
Pstpip2 A G 18: 77,861,856 I122V probably benign Het
Pus10 A G 11: 23,706,895 E207G probably damaging Het
Rabl2 G A 15: 89,584,188 probably benign Het
Rbp3 G A 14: 33,958,650 V1070I probably benign Het
Rtl6 T A 15: 84,557,196 probably benign Het
Scn7a T G 2: 66,684,063 K1122N probably damaging Het
Spag16 A G 1: 69,873,481 probably benign Het
Spata13 C T 14: 60,756,296 R396C probably damaging Het
Stmn4 A T 14: 66,355,717 probably benign Het
Syp G T X: 7,638,692 probably benign Het
Tmem260 C T 14: 48,477,636 T249M probably damaging Het
Tnrc6b A G 15: 80,901,971 I1239V probably benign Het
Ubr3 C T 2: 69,938,387 Q510* probably null Het
Vegfa A G 17: 46,031,466 V142A probably benign Het
Vmn2r93 T C 17: 18,304,830 I250T possibly damaging Het
Other mutations in Pitpnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pitpnb APN 5 111338356 missense probably damaging 1.00
IGL02388:Pitpnb APN 5 111330833 missense possibly damaging 0.58
IGL03124:Pitpnb APN 5 111330830 missense possibly damaging 0.55
R0349:Pitpnb UTSW 5 111347126 missense possibly damaging 0.74
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
R8554:Pitpnb UTSW 5 111346506 missense probably benign 0.00
X0022:Pitpnb UTSW 5 111349540 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAACGGGATGCAAACTGC -3'
(R):5'- TCGTATTCCTCGGCACAGAG -3'

Sequencing Primer
(F):5'- CTGCAAATACTATATGTGGACACAC -3'
(R):5'- GTGACAGCCTGGTTCTGCTC -3'
Posted On2015-06-20