Incidental Mutation 'R4888:Pitpnb'
ID 377082
Institutional Source Beutler Lab
Gene Symbol Pitpnb
Ensembl Gene ENSMUSG00000050017
Gene Name phosphatidylinositol transfer protein, beta
Synonyms Pitp beta
MMRRC Submission 042493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4888 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 111478629-111536225 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111530862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 218 (K218N)
Ref Sequence ENSEMBL: ENSMUSP00000142732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086635] [ENSMUST00000200298]
AlphaFold P53811
Predicted Effect possibly damaging
Transcript: ENSMUST00000086635
AA Change: K218N

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083835
Gene: ENSMUSG00000050017
AA Change: K218N

DomainStartEndE-ValueType
Pfam:IP_trans 2 252 2.4e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199149
Predicted Effect possibly damaging
Transcript: ENSMUST00000200298
AA Change: K218N

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142732
Gene: ENSMUSG00000050017
AA Change: K218N

DomainStartEndE-ValueType
Pfam:IP_trans 2 254 3.9e-145 PFAM
Meta Mutation Damage Score 0.1580 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 99% (150/151)
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: 139 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931403M11Rik C A 14: 24,671,419 (GRCm39) noncoding transcript Het
Abca7 A G 10: 79,838,562 (GRCm39) K612R probably damaging Het
Adamtsl3 T C 7: 82,223,822 (GRCm39) V275A possibly damaging Het
Afg3l1 G A 8: 124,215,065 (GRCm39) probably null Het
Ajm1 G A 2: 25,469,759 (GRCm39) R51C possibly damaging Het
Alcam T A 16: 52,089,176 (GRCm39) H508L probably benign Het
Ankrd45 G A 1: 160,982,942 (GRCm39) R151H probably damaging Het
Aqr G A 2: 113,980,990 (GRCm39) L264F probably damaging Het
Arfgef2 G A 2: 166,677,533 (GRCm39) A53T probably damaging Het
Arhgap30 A G 1: 171,236,880 (GRCm39) T1085A probably benign Het
Atp10a T C 7: 58,435,055 (GRCm39) V314A probably damaging Het
Bdp1 T C 13: 100,187,627 (GRCm39) D1580G probably benign Het
Btbd17 T A 11: 114,684,917 (GRCm39) T41S possibly damaging Het
Cacna1c T C 6: 118,728,400 (GRCm39) N378S probably damaging Het
Camsap1 G T 2: 25,825,562 (GRCm39) Q1375K probably benign Het
Catsper2 G T 2: 121,227,604 (GRCm39) probably null Het
Cblif A G 19: 11,729,583 (GRCm39) T181A probably benign Het
Ccar1 A G 10: 62,588,997 (GRCm39) S829P unknown Het
Ccdc180 T C 4: 45,909,308 (GRCm39) L492P probably damaging Het
Ccser2 A T 14: 36,662,343 (GRCm39) N280K probably damaging Het
Cd37 T C 7: 44,883,359 (GRCm39) D271G probably damaging Het
Cdcp1 G A 9: 123,011,194 (GRCm39) probably benign Het
Cemip2 T C 19: 21,833,528 (GRCm39) V1322A probably benign Het
Cep85 T A 4: 133,892,062 (GRCm39) probably benign Het
Cfi C T 3: 129,666,726 (GRCm39) P483L probably damaging Het
Csmd1 A G 8: 15,945,674 (GRCm39) probably benign Het
Cytl1 G T 5: 37,892,918 (GRCm39) L9F unknown Het
Defb26 T C 2: 152,350,085 (GRCm39) E65G possibly damaging Het
Degs1 G A 1: 182,104,370 (GRCm39) T305I probably damaging Het
Dnttip2 T G 3: 122,070,241 (GRCm39) C485W probably damaging Het
Ecel1 G A 1: 87,076,449 (GRCm39) probably benign Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Elmo2 A T 2: 165,137,209 (GRCm39) C562S probably benign Het
Etl4 T A 2: 20,344,922 (GRCm39) probably null Het
F2r A C 13: 95,740,905 (GRCm39) V210G probably damaging Het
Fam171a1 T A 2: 3,224,546 (GRCm39) V179E probably damaging Het
Fmod G T 1: 133,967,977 (GRCm39) V6F possibly damaging Het
Foxr2 A G X: 151,913,312 (GRCm39) Q61R probably damaging Het
Gabra4 G A 5: 71,729,546 (GRCm39) H76Y probably benign Het
Gck A T 11: 5,859,150 (GRCm39) M139K possibly damaging Het
Gm10192 C G 4: 97,071,345 (GRCm39) S20T probably null Het
Gm44501 T C 17: 40,887,515 (GRCm39) L11P unknown Het
Gm572 T C 4: 148,751,302 (GRCm39) probably null Het
Gnas A G 2: 174,139,882 (GRCm39) K17R possibly damaging Het
Grm2 T A 9: 106,527,865 (GRCm39) S340C probably damaging Het
Gsc T A 12: 104,438,274 (GRCm39) H198L probably damaging Het
H2-Q3 A T 17: 35,578,424 (GRCm39) noncoding transcript Het
H4c1 T C 13: 23,944,935 (GRCm39) D69G probably damaging Het
Hivep3 A G 4: 119,980,131 (GRCm39) E1723G probably damaging Het
Hk3 A T 13: 55,154,405 (GRCm39) L757Q probably damaging Het
Homer2 A T 7: 81,299,311 (GRCm39) D51E probably benign Het
Ier3ip1 T A 18: 77,027,227 (GRCm39) probably benign Het
Itch T A 2: 155,059,897 (GRCm39) probably null Het
Kalrn T A 16: 33,991,700 (GRCm39) Q974L probably damaging Het
Kirrel3 G T 9: 34,924,601 (GRCm39) G296W probably damaging Het
Klhl17 A G 4: 156,315,082 (GRCm39) V525A probably benign Het
Klhl9 T C 4: 88,640,182 (GRCm39) K20E probably benign Het
Kmt2a G T 9: 44,732,977 (GRCm39) probably benign Het
Krt17 C A 11: 100,147,305 (GRCm39) V409L probably benign Het
Lmx1b T C 2: 33,454,802 (GRCm39) N322S probably benign Het
Lrrc63 G C 14: 75,363,406 (GRCm39) P242A probably benign Het
Ltk T C 2: 119,583,708 (GRCm39) N256D probably damaging Het
Map3k19 T A 1: 127,745,470 (GRCm39) E1328V probably damaging Het
Map4k2 C T 19: 6,394,033 (GRCm39) A280V probably benign Het
Micall1 C T 15: 79,016,048 (GRCm39) R802* probably null Het
Mmp14 A G 14: 54,673,662 (GRCm39) R109G probably damaging Het
Mmp27 A T 9: 7,581,369 (GRCm39) H544L probably benign Het
Mpeg1 A G 19: 12,440,434 (GRCm39) T631A probably damaging Het
Mpnd A G 17: 56,318,641 (GRCm39) M217V probably benign Het
Mrc2 T C 11: 105,232,034 (GRCm39) V862A probably damaging Het
Mug2 T A 6: 122,058,154 (GRCm39) S1239T probably damaging Het
Myb T A 10: 21,002,137 (GRCm39) M616L probably benign Het
Myo18b A T 5: 113,022,346 (GRCm39) probably benign Het
Myo1c C A 11: 75,560,053 (GRCm39) T703N probably damaging Het
Myt1l T G 12: 29,936,138 (GRCm39) C909G unknown Het
Nbea T C 3: 55,912,776 (GRCm39) S1004G possibly damaging Het
Neb T C 2: 52,186,319 (GRCm39) N918D probably benign Het
Nrtn T C 17: 57,058,636 (GRCm39) T122A probably damaging Het
Nsd3 A T 8: 26,188,939 (GRCm39) S1042C probably damaging Het
Ntmt2 A T 1: 163,530,633 (GRCm39) C269S probably benign Het
Nvl A G 1: 180,945,191 (GRCm39) L461S probably damaging Het
Onecut2 A T 18: 64,473,998 (GRCm39) H183L possibly damaging Het
Or13p5 A C 4: 118,591,885 (GRCm39) H53P probably benign Het
Or2h2 G A 17: 37,396,343 (GRCm39) T238I probably damaging Het
Or4d10 C G 19: 12,051,679 (GRCm39) G106R probably damaging Het
Or52e4 A G 7: 104,705,689 (GRCm39) T79A possibly damaging Het
Or5c1 T G 2: 37,222,601 (GRCm39) F281V probably damaging Het
Or6c1b A C 10: 129,273,248 (GRCm39) D189A possibly damaging Het
Or6z5 A T 7: 6,477,612 (GRCm39) I168F probably damaging Het
Pcdhb21 G T 18: 37,648,130 (GRCm39) V420F possibly damaging Het
Pcdhb9 G A 18: 37,536,286 (GRCm39) G760D probably benign Het
Pglyrp2 G A 17: 32,637,771 (GRCm39) P86S probably benign Het
Phyhip T A 14: 70,704,765 (GRCm39) V328E probably damaging Het
Pitrm1 A G 13: 6,628,596 (GRCm39) D963G probably damaging Het
Pmfbp1 A G 8: 110,258,792 (GRCm39) Y699C probably damaging Het
Pmpcb T A 5: 21,945,660 (GRCm39) probably benign Het
Polg A T 7: 79,114,353 (GRCm39) W203R probably damaging Het
Pramel22 A G 4: 143,380,971 (GRCm39) S351P probably benign Het
Prss41 A T 17: 24,055,977 (GRCm39) M252K probably benign Het
Prss46 A T 9: 110,673,618 (GRCm39) M1L possibly damaging Het
Rimklb T C 6: 122,441,051 (GRCm39) probably null Het
Rngtt T C 4: 33,500,335 (GRCm39) I556T unknown Het
Rock1 A C 18: 10,122,698 (GRCm39) D374E probably benign Het
Rspry1 C A 8: 95,385,417 (GRCm39) H450N probably benign Het
Rusc2 T C 4: 43,423,942 (GRCm39) V1032A probably damaging Het
Sacs A G 14: 61,449,647 (GRCm39) R3898G probably damaging Het
Scnn1b A T 7: 121,502,110 (GRCm39) H256L probably benign Het
Sh3gl2 T A 4: 85,297,494 (GRCm39) H157Q probably benign Het
Sipa1l1 C A 12: 82,389,107 (GRCm39) S444R probably damaging Het
Sntg1 T A 1: 8,433,818 (GRCm39) I478F probably damaging Het
Spata31e2 A G 1: 26,722,628 (GRCm39) Y851H probably benign Het
Sptb G T 12: 76,655,811 (GRCm39) L1424M probably benign Het
Sry T A Y: 2,663,105 (GRCm39) H185L unknown Het
Stox2 T G 8: 47,656,198 (GRCm39) T93P probably damaging Het
Tatdn2 T A 6: 113,681,566 (GRCm39) F472Y possibly damaging Het
Tefm A T 11: 80,031,185 (GRCm39) V17D possibly damaging Het
Tekt2 G T 4: 126,218,460 (GRCm39) T70N probably benign Het
Ticam1 T C 17: 56,578,642 (GRCm39) D151G probably damaging Het
Tmem63c A G 12: 87,136,139 (GRCm39) E785G probably damaging Het
Tnmd A T X: 132,765,551 (GRCm39) N219I probably benign Het
Ttc14 T A 3: 33,861,024 (GRCm39) L407* probably null Het
Ttll7 T C 3: 146,599,932 (GRCm39) M1T probably null Het
Ttn T A 2: 76,746,835 (GRCm39) probably null Het
Uchl1 T C 5: 66,833,780 (GRCm39) M12T probably benign Het
Uggt2 A T 14: 119,315,062 (GRCm39) probably null Het
Uggt2 T C 14: 119,286,665 (GRCm39) T224A probably damaging Het
Umodl1 A G 17: 31,218,175 (GRCm39) E1254G probably damaging Het
Unc5d A G 8: 29,156,927 (GRCm39) F773L probably benign Het
Unc80 C A 1: 66,683,606 (GRCm39) P2216Q probably damaging Het
Usp40 T A 1: 87,913,923 (GRCm39) probably null Het
Vmn1r117 A T 7: 20,617,421 (GRCm39) M209K probably damaging Het
Vmn2r44 A T 7: 8,380,985 (GRCm39) W303R probably benign Het
Wnk2 G A 13: 49,224,478 (GRCm39) R268C probably damaging Het
Wnt2 T C 6: 18,023,125 (GRCm39) K175E possibly damaging Het
Xkr6 T C 14: 64,056,953 (GRCm39) V288A unknown Het
Zfp125 A G 12: 20,950,459 (GRCm39) noncoding transcript Het
Zfp512b A C 2: 181,228,856 (GRCm39) V703G probably damaging Het
Zglp1 A T 9: 20,973,957 (GRCm39) I243N probably benign Het
Zgpat T C 2: 181,020,651 (GRCm39) S275P probably benign 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
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'- TGATAGTAGGACAGAATTAAGGTTTCT -3'
(R):5'- CAAGTCTAAGTAGTCTCTAAGCATGT -3'

Sequencing Primer
(F):5'- TTGAGACAAGTCTGTACATACCCCTG -3'
(R):5'- GCATGTACACTTTTAGAGACAGACAC -3'
Posted On 2016-03-17