Incidental Mutation 'IGL02582:Pbp2'
ID299374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbp2
Ensembl Gene ENSMUSG00000047104
Gene Namephosphatidylethanolamine binding protein 2
Synonyms1700023A18Rik, Pebp-2, Pebp2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02582
Quality Score
Status
Chromosome6
Chromosomal Location135309127-135310405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135310149 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 67 (I67V)
Ref Sequence ENSEMBL: ENSMUSP00000098414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050471]
Predicted Effect probably benign
Transcript: ENSMUST00000050471
AA Change: I67V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098414
Gene: ENSMUSG00000047104
AA Change: I67V

DomainStartEndE-ValueType
Pfam:PBP 27 169 4.4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203417
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203686
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,594,745 I92F probably benign Het
Actr3b A G 5: 25,832,413 I208V probably benign Het
Car12 T C 9: 66,713,877 V10A probably benign Het
Ccdc171 C A 4: 83,743,018 R1122S probably damaging Het
Cep97 A G 16: 55,922,176 V136A probably damaging Het
Cilp2 G T 8: 69,881,286 Q1021K probably damaging Het
Col24a1 C A 3: 145,314,486 T206N probably damaging Het
Crebbp A T 16: 4,084,277 I2328K possibly damaging Het
Ctns A G 11: 73,196,652 F16S probably benign Het
Dbf4 T C 5: 8,403,172 K276E probably benign Het
Dnase2b T A 3: 146,589,085 Q118L probably benign Het
Elf1 T C 14: 79,536,379 L10P probably damaging Het
Exosc5 T C 7: 25,665,563 probably null Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fam180a G T 6: 35,313,712 A112E possibly damaging Het
Fam3b A T 16: 97,471,191 Y89* probably null Het
Gcg C T 2: 62,478,578 W77* probably null Het
Gm17472 G A 6: 42,980,898 V34I possibly damaging Het
Klhl23 T A 2: 69,824,238 C151S probably damaging Het
Mdh1b T A 1: 63,719,597 I279F probably benign Het
Mfsd11 T A 11: 116,873,875 I375N probably damaging Het
Mroh2b T A 15: 4,908,515 I206N probably damaging Het
Myo1b T C 1: 51,781,974 E456G possibly damaging Het
Nat8 G A 6: 85,830,801 Q117* probably null Het
Nlrp4g A C 9: 124,349,764 noncoding transcript Het
Nmt1 G T 11: 103,064,799 G468C possibly damaging Het
Nobox G T 6: 43,305,039 Q367K possibly damaging Het
Nusap1 A G 2: 119,648,989 *428W probably null Het
Olfr1261 G A 2: 89,994,312 M306I probably benign Het
Olfr533 T C 7: 140,466,647 F149L probably benign Het
Pcdhb8 T G 18: 37,355,374 M35R possibly damaging Het
Pkp1 T C 1: 135,889,926 E157G probably damaging Het
Pomgnt1 C T 4: 116,158,550 L560F probably damaging Het
Prkcz T C 4: 155,271,256 T227A probably damaging Het
Ptprd T A 4: 75,947,124 R1446S probably damaging Het
Ptprq T C 10: 107,643,999 T1137A probably benign Het
Sec22c T C 9: 121,685,564 I153V probably benign Het
Slc30a5 C T 13: 100,812,647 probably null Het
Smcr8 T C 11: 60,778,895 S290P probably benign Het
Stambpl1 T G 19: 34,235,212 L261V probably benign Het
Stk38l T C 6: 146,766,823 probably null Het
Themis T C 10: 28,761,547 F216L probably benign Het
Trmt1l T C 1: 151,433,785 probably benign Het
Usp17lb C A 7: 104,840,730 C330F probably damaging Het
Vmn2r120 A T 17: 57,524,724 L355H probably damaging Het
Zc3h7b T A 15: 81,769,140 C82S probably benign Het
Other mutations in Pbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Pbp2 APN 6 135310075 missense probably damaging 1.00
IGL02120:Pbp2 APN 6 135309818 missense probably damaging 1.00
R3856:Pbp2 UTSW 6 135310145 missense probably benign 0.42
R5476:Pbp2 UTSW 6 135309924 missense probably benign 0.21
R5802:Pbp2 UTSW 6 135309876 missense possibly damaging 0.84
R7316:Pbp2 UTSW 6 135309832 missense probably damaging 0.98
R8184:Pbp2 UTSW 6 135310262 missense probably damaging 1.00
Posted On2015-04-16