Incidental Mutation 'R4276:Pitpnb'
ID 322695
Institutional Source Beutler Lab
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Name phosphatidylinositol transfer protein, beta
Synonyms Pitp beta
MMRRC Submission 041647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4276 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 111478629-111536225 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 111519258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
AlphaFold P53811
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: 26,889,745 (GRCm39) Q316H probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Brix1 T C 15: 10,481,833 (GRCm39) D101G possibly damaging Het
Cfap36 A G 11: 29,180,584 (GRCm39) probably null Het
Chrnb3 A G 8: 27,883,779 (GRCm39) N172S probably damaging Het
Csnk1e T C 15: 79,313,967 (GRCm39) N37S probably damaging Het
Ern1 T C 11: 106,298,007 (GRCm39) I705V probably benign Het
Gimap8 T C 6: 48,636,017 (GRCm39) M594T probably benign Het
Gm6578 G A 6: 12,100,187 (GRCm39) noncoding transcript Het
Gpc6 A G 14: 117,673,328 (GRCm39) D195G probably damaging Het
Gpcpd1 T C 2: 132,382,207 (GRCm39) K412E probably damaging Het
Insm1 C A 2: 146,064,888 (GRCm39) H235N probably benign Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Kbtbd8 T C 6: 95,103,914 (GRCm39) V521A probably damaging Het
Kcna5 T C 6: 126,510,329 (GRCm39) T600A probably damaging Het
Kctd6 G C 14: 8,222,806 (GRCm38) R216P probably damaging Het
Lbx1 C A 19: 45,223,528 (GRCm39) V47L probably benign Het
Mefv A T 16: 3,533,433 (GRCm39) N279K probably benign Het
Mroh1 T G 15: 76,278,051 (GRCm39) V24G probably damaging Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Or4f4b G T 2: 111,313,849 (GRCm39) V25L probably damaging Het
Or8u3-ps G A 2: 85,952,623 (GRCm39) A119T probably damaging Het
Padi2 A G 4: 140,663,859 (GRCm39) E404G possibly damaging Het
Plxna4 T C 6: 32,177,883 (GRCm39) N1006S probably benign Het
Proc A G 18: 32,268,967 (GRCm39) V6A probably benign Het
Prrc2c T A 1: 162,501,160 (GRCm39) K1214N probably damaging Het
Pstpip2 A G 18: 77,949,556 (GRCm39) I122V probably benign Het
Pus10 A G 11: 23,656,895 (GRCm39) E207G probably damaging Het
Rabl2 G A 15: 89,468,391 (GRCm39) probably benign Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Rtl6 T A 15: 84,441,397 (GRCm39) probably benign Het
Scn7a T G 2: 66,514,407 (GRCm39) K1122N probably damaging Het
Spag16 A G 1: 69,912,640 (GRCm39) probably benign Het
Spata13 C T 14: 60,993,745 (GRCm39) R396C probably damaging Het
Stmn4 A T 14: 66,593,166 (GRCm39) probably benign Het
Syp G T X: 7,504,931 (GRCm39) probably benign Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Tnrc6b A G 15: 80,786,172 (GRCm39) I1239V probably benign Het
Ubr3 C T 2: 69,768,731 (GRCm39) Q510* probably null Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vmn2r93 T C 17: 18,525,092 (GRCm39) I250T possibly damaging Het
Other mutations in Pitpnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Pitpnb APN 5 111,486,222 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTAACGGGATGCAAACTGC -3'
(R):5'- TCGTATTCCTCGGCACAGAG -3'

Sequencing Primer
(F):5'- CTGCAAATACTATATGTGGACACAC -3'
(R):5'- GTGACAGCCTGGTTCTGCTC -3'
Posted On 2015-06-20