Incidental Mutation 'R5476:Pbp2'
ID 434078
Institutional Source Beutler Lab
Gene Symbol Pbp2
Ensembl Gene ENSMUSG00000047104
Gene Name phosphatidylethanolamine binding protein 2
Synonyms 1700023A18Rik, Pebp-2, Pebp2
MMRRC Submission 043037-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R5476 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 135286127-135287382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135286922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 142 (S142P)
Ref Sequence ENSEMBL: ENSMUSP00000098414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050471]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000050471
AA Change: S142P

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098414
Gene: ENSMUSG00000047104
AA Change: S142P

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
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.5%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh16a1 T G 7: 44,791,493 (GRCm39) N71H possibly damaging Het
Alg5 T A 3: 54,654,019 (GRCm39) S252T probably benign Het
Arhgap21 T C 2: 20,885,497 (GRCm39) N560S probably benign Het
Ccdc96 A G 5: 36,642,981 (GRCm39) D329G possibly damaging Het
Cep128 T C 12: 91,180,392 (GRCm39) E917G probably damaging Het
Cpox G C 16: 58,499,088 (GRCm39) V434L probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Ddx6 A G 9: 44,518,753 (GRCm39) R22G possibly damaging Het
Dgcr8 A T 16: 18,077,843 (GRCm39) Y597N probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock5 T C 14: 68,051,456 (GRCm39) D671G possibly damaging Het
Dock6 A G 9: 21,720,885 (GRCm39) S1707P probably damaging Het
Dop1b A G 16: 93,570,801 (GRCm39) probably null Het
Faim A G 9: 98,874,782 (GRCm39) R110G probably damaging Het
Grm4 A G 17: 27,653,772 (GRCm39) V726A probably benign Het
Hps1 T C 19: 42,758,041 (GRCm39) probably null Het
Lefty1 T C 1: 180,765,263 (GRCm39) M277T probably benign Het
Mmp9 A G 2: 164,794,414 (GRCm39) M469V probably benign Het
Mroh4 A T 15: 74,483,510 (GRCm39) I609N probably benign Het
Myl6b C T 10: 128,333,216 (GRCm39) probably benign Het
Nt5m A G 11: 59,766,733 (GRCm39) D208G probably damaging Het
Pard3b G T 1: 62,049,565 (GRCm39) V108L probably benign Het
Pbrm1 T A 14: 30,754,476 (GRCm39) D165E probably benign Het
Pde4b A G 4: 102,459,896 (GRCm39) K577R probably benign Het
Phf21b A G 15: 84,671,466 (GRCm39) M476T probably benign Het
Prr14l T C 5: 33,001,482 (GRCm39) probably benign Het
Ralgapa2 A G 2: 146,289,356 (GRCm39) V282A probably benign Het
Rif1 A G 2: 51,979,607 (GRCm39) I430V probably damaging Het
Slc25a12 A G 2: 71,105,666 (GRCm39) S623P probably benign Het
Smc1b A T 15: 84,970,352 (GRCm39) I967N probably damaging Het
Snx13 A G 12: 35,156,819 (GRCm39) probably null Het
Spata2 A T 2: 167,326,079 (GRCm39) S247T probably damaging Het
Stpg2 T A 3: 138,948,899 (GRCm39) Y232N probably benign Het
Tor3a G T 1: 156,501,137 (GRCm39) S100R possibly damaging Het
Trappc8 A G 18: 20,998,165 (GRCm39) F385S probably damaging Het
Uggt2 T A 14: 119,328,121 (GRCm39) T134S probably benign Het
Vmn1r175 C T 7: 23,508,556 (GRCm39) V24I possibly damaging Het
Wdr1 C T 5: 38,686,931 (GRCm39) G278S probably damaging Het
Zfp157 T G 5: 138,455,443 (GRCm39) V547G possibly damaging Het
Zfp442 A T 2: 150,250,079 (GRCm39) C551S probably damaging Het
Other mutations in Pbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Pbp2 APN 6 135,287,073 (GRCm39) missense probably damaging 1.00
IGL02120:Pbp2 APN 6 135,286,816 (GRCm39) missense probably damaging 1.00
IGL02582:Pbp2 APN 6 135,287,147 (GRCm39) missense probably benign
R3856:Pbp2 UTSW 6 135,287,143 (GRCm39) missense probably benign 0.42
R5802:Pbp2 UTSW 6 135,286,874 (GRCm39) missense possibly damaging 0.84
R7316:Pbp2 UTSW 6 135,286,830 (GRCm39) missense probably damaging 0.98
R8184:Pbp2 UTSW 6 135,287,260 (GRCm39) missense probably damaging 1.00
R8728:Pbp2 UTSW 6 135,287,104 (GRCm39) missense probably benign 0.00
R8783:Pbp2 UTSW 6 135,287,330 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAAAGACATGCCACTCATTGC -3'
(R):5'- AAACCCGTGTACAGGGAATG -3'

Sequencing Primer
(F):5'- GCTGAACCCGATAATAATATGGC -3'
(R):5'- CAGGGAATGGCACCATTTTC -3'
Posted On 2016-10-06