Incidental Mutation 'IGL01728:Pbp2'
ID105354
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 #IGL01728
Quality Score
Status
Chromosome6
Chromosomal Location135309127-135310405 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 135310075 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 91 (N91K)
Ref Sequence ENSEMBL: ENSMUSP00000098414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050471]
Predicted Effect probably damaging
Transcript: ENSMUST00000050471
AA Change: N91K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098414
Gene: ENSMUSG00000047104
AA Change: N91K

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,182,509 S54P probably benign Het
Adamtsl1 T C 4: 86,110,837 I71T probably damaging Het
Agbl3 T C 6: 34,782,157 M1T probably null Het
Ankib1 A G 5: 3,701,992 probably benign Het
Brinp3 T G 1: 146,831,551 probably null Het
Chuk T C 19: 44,098,646 N138S possibly damaging Het
Dock7 G A 4: 98,962,331 T1588M probably damaging Het
Ehbp1 G A 11: 22,101,115 T479I probably damaging Het
Gpn2 T C 4: 133,584,502 I15T possibly damaging Het
Haao A G 17: 83,835,229 F149S probably damaging Het
Hist1h3b G A 13: 23,752,729 R117H probably benign Het
Iqsec3 T A 6: 121,412,664 probably benign Het
Lrrc39 G T 3: 116,579,500 probably benign Het
Ltbp2 C A 12: 84,791,009 S1199I probably damaging Het
Mageb3 G T 2: 121,954,460 P254T probably damaging Het
Mapkbp1 C T 2: 120,023,821 P1300S probably damaging Het
Mtfmt T A 9: 65,435,818 L2H probably damaging Het
Myo18a G T 11: 77,777,856 G181W probably damaging Het
Mzf1 T C 7: 13,051,727 probably benign Het
Nfatc2 A T 2: 168,536,242 L280Q probably damaging Het
Nudt15 A G 14: 73,523,296 probably null Het
Olfr633 T C 7: 103,946,752 F62S probably damaging Het
Olfr920 A G 9: 38,756,095 M136V possibly damaging Het
Parp14 A G 16: 35,857,435 V721A probably damaging Het
Pde7b C A 10: 20,434,464 probably null Het
Pramel7 C A 2: 87,491,330 E120D possibly damaging Het
Rbbp5 C T 1: 132,498,080 T516M probably benign Het
Slc16a12 A G 19: 34,690,671 V28A possibly damaging Het
Slc6a9 T C 4: 117,864,605 F276S probably damaging Het
Spata9 A T 13: 75,993,074 I147L probably benign Het
Tenm4 A T 7: 96,896,064 Y2429F probably damaging Het
Tmtc1 A G 6: 148,411,066 S212P probably benign Het
Unc5cl A T 17: 48,459,963 I122F probably damaging Het
Unc79 T A 12: 103,165,684 F2350I probably damaging Het
Other mutations in Pbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02120:Pbp2 APN 6 135309818 missense probably damaging 1.00
IGL02582:Pbp2 APN 6 135310149 missense probably benign
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 On2014-01-21