Incidental Mutation 'R9353:Pitpnb'
ID 708212
Institutional Source Beutler Lab
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Name phosphatidylinositol transfer protein, beta
Synonyms Pitp beta
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9353 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 111478629-111536225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111530891 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 228 (L228P)
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
AlphaFold P53811
Predicted Effect probably damaging
Transcript: ENSMUST00000086635
AA Change: L228P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: L228P

DomainStartEndE-ValueType
Pfam:IP_trans 2 252 2.4e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000200298
AA Change: L228P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: L228P

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.9e-145 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (44/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,517,890 (GRCm39) V316D possibly damaging Het
Bhmt1b A G 18: 87,774,954 (GRCm39) E159G probably damaging Het
Cc2d2a T C 5: 43,860,691 (GRCm39) probably null Het
Ccdc88a A G 11: 29,427,433 (GRCm39) D1046G probably damaging Het
Ccl12 A T 11: 81,993,437 (GRCm39) D25V possibly damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Ces3a G T 8: 105,776,547 (GRCm39) R45L probably benign Het
Cntln G T 4: 84,802,597 (GRCm39) probably benign Het
Crybg3 C A 16: 59,421,107 (GRCm39) probably null Het
Cxxc4 G T 3: 133,945,913 (GRCm39) G165C unknown Het
Dab2ip G A 2: 35,598,851 (GRCm39) C181Y probably damaging Het
Dnah11 A G 12: 118,143,434 (GRCm39) V403A probably benign Het
Dnah12 T C 14: 26,578,507 (GRCm39) S3089P probably damaging Het
Dnajc13 A T 9: 104,067,571 (GRCm39) I1196N probably benign Het
Faiml T C 9: 99,116,462 (GRCm39) Y76C probably damaging Het
Fam171b T A 2: 83,707,028 (GRCm39) H299Q probably benign Het
Fbxo36 A G 1: 84,874,259 (GRCm39) N85S probably benign Het
Filip1 A G 9: 79,725,623 (GRCm39) F999L possibly damaging Het
Gtf3c3 A T 1: 54,445,211 (GRCm39) S614R possibly damaging Het
Il18rap A G 1: 40,587,088 (GRCm39) T457A probably benign Het
Inmt C T 6: 55,151,984 (GRCm39) probably benign Het
Kcnb1 C T 2: 166,947,007 (GRCm39) G614S probably benign Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Kdm5a T A 6: 120,404,730 (GRCm39) V1324E probably benign Het
Lyn A T 4: 3,746,804 (GRCm39) Y194F possibly damaging Het
Mdn1 A G 4: 32,693,504 (GRCm39) D1043G probably damaging Het
Mier1 T A 4: 103,012,800 (GRCm39) H397Q probably damaging Het
Mov10l1 T A 15: 88,872,622 (GRCm39) D105E possibly damaging Het
Muc21 T C 17: 35,930,545 (GRCm39) T1214A unknown Het
Nav3 A G 10: 109,554,065 (GRCm39) S1766P probably damaging Het
Ncdn T A 4: 126,644,464 (GRCm39) E119D probably benign Het
Nckipsd C A 9: 108,691,471 (GRCm39) A416E probably damaging Het
Nek5 A G 8: 22,563,961 (GRCm39) V623A probably benign Het
Oas1g A G 5: 121,023,986 (GRCm39) Y108H possibly damaging Het
Or13n4 T C 7: 106,423,062 (GRCm39) T224A probably benign Het
P2ry1 T C 3: 60,911,916 (GRCm39) S352P probably damaging Het
Pde6a T C 18: 61,390,382 (GRCm39) F535S probably damaging Het
Rbck1 G T 2: 152,161,145 (GRCm39) H368N probably damaging Het
Snrnp35 T A 5: 124,628,559 (GRCm39) V124E probably damaging Het
Spdye4a C T 5: 143,204,793 (GRCm39) M224I probably benign Het
Stau1 A G 2: 166,792,267 (GRCm39) Y424H probably damaging Het
Sult1c2 A T 17: 54,271,060 (GRCm39) D190E probably benign Het
Thbs1 A G 2: 117,953,051 (GRCm39) D887G probably damaging Het
Tiam2 C T 17: 3,558,074 (GRCm39) Q1233* probably null Het
Tmem88 A G 11: 69,288,939 (GRCm39) V38A probably damaging Het
Vmn1r219 G A 13: 23,346,902 (GRCm39) M30I probably benign Het
Zswim3 A G 2: 164,662,261 (GRCm39) H247R probably 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
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
X0022:Pitpnb UTSW 5 111,497,406 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATAGTAGGACAGAATTAAGGTTTCT -3'
(R):5'- GGAAAGAAACAGCCTTCAGC -3'

Sequencing Primer
(F):5'- TTGAGACAAGTCTGTACATACCCCTG -3'
(R):5'- GCCTTCAGCAAGTCTAAGTAGTC -3'
Posted On 2022-04-18