Incidental Mutation 'IGL02365:Plpbp'
ID 290678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plpbp
Ensembl Gene ENSMUSG00000031485
Gene Name pyridoxal phosphate binding protein
Synonyms 2200002F22Rik, Prosc
Accession Numbers
Essential gene? Probably essential (E-score: 0.840) question?
Stock # IGL02365
Quality Score
Status
Chromosome 8
Chromosomal Location 27532583-27546160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27535952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 82 (I82V)
Ref Sequence ENSEMBL: ENSMUSP00000147304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033875] [ENSMUST00000098851] [ENSMUST00000209525] [ENSMUST00000209856]
AlphaFold Q9Z2Y8
Predicted Effect probably benign
Transcript: ENSMUST00000033875
AA Change: I82V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000033875
Gene: ENSMUSG00000031485
AA Change: I82V

DomainStartEndE-ValueType
Pfam:Ala_racemase_N 16 251 5.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098851
AA Change: I70V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000096450
Gene: ENSMUSG00000031485
AA Change: I70V

DomainStartEndE-ValueType
Pfam:Ala_racemase_N 15 138 2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178990
Predicted Effect probably benign
Transcript: ENSMUST00000209525
AA Change: I82V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209555
Predicted Effect probably benign
Transcript: ENSMUST00000209856
AA Change: I82V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect unknown
Transcript: ENSMUST00000210765
AA Change: I10V
Predicted Effect unknown
Transcript: ENSMUST00000211393
AA Change: I79V
Predicted Effect unknown
Transcript: ENSMUST00000211518
AA Change: I73V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211490
Predicted Effect probably benign
Transcript: ENSMUST00000210141
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211012
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyridoxal 5'-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5'-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 A T 11: 30,599,318 (GRCm39) V21E probably damaging Het
Adgrl3 A G 5: 81,660,428 (GRCm39) D331G probably damaging Het
Arfgef1 A T 1: 10,270,108 (GRCm39) I347N probably benign Het
Bfsp1 T G 2: 143,668,656 (GRCm39) E647A probably damaging Het
Bhmt A T 13: 93,754,146 (GRCm39) N354K probably benign Het
Brinp3 A T 1: 146,776,860 (GRCm39) T436S probably benign Het
Capza1b T C X: 168,559,526 (GRCm39) N272D probably benign Het
Cog7 C A 7: 121,576,959 (GRCm39) M66I possibly damaging Het
Csf2rb2 A T 15: 78,171,260 (GRCm39) M333K possibly damaging Het
Cyp2u1 A G 3: 131,091,878 (GRCm39) V214A probably damaging Het
Dcaf5 A T 12: 80,445,547 (GRCm39) H177Q probably benign Het
Dchs1 T C 7: 105,404,395 (GRCm39) T2716A probably benign Het
Dsc1 T C 18: 20,241,873 (GRCm39) Q156R probably damaging Het
Dspp G T 5: 104,323,927 (GRCm39) G357W probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fto T G 8: 92,195,003 (GRCm39) S265R probably damaging Het
Gphb5 A G 12: 75,462,591 (GRCm39) probably benign Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Klk13 A C 7: 43,373,290 (GRCm39) K107T possibly damaging Het
Kpna7 T A 5: 144,922,543 (GRCm39) D507V possibly damaging Het
Lamb1 A T 12: 31,368,344 (GRCm39) E1158V probably damaging Het
Lonp2 A T 8: 87,442,993 (GRCm39) D818V possibly damaging Het
Med15 A G 16: 17,489,470 (GRCm39) probably benign Het
Or5p51 T A 7: 107,444,119 (GRCm39) N274Y probably damaging Het
Or6c69b T C 10: 129,627,404 (GRCm39) D18G possibly damaging Het
Or8g52 A T 9: 39,630,970 (GRCm39) Y149F possibly damaging Het
Or8g52 G A 9: 39,631,396 (GRCm39) S291N probably damaging Het
Ptprcap A G 19: 4,206,267 (GRCm39) I117V probably benign Het
Rhox12 T A X: 37,196,758 (GRCm39) D88V possibly damaging Het
Rnpc3 A G 3: 113,402,048 (GRCm39) S500P probably damaging Het
Sdhd A T 9: 50,510,125 (GRCm39) Y84N possibly damaging Het
Sema6d G A 2: 124,498,788 (GRCm39) V233I probably benign Het
Vegfb A T 19: 6,962,855 (GRCm39) I140N probably benign Het
Vldlr A G 19: 27,223,025 (GRCm39) Y732C probably damaging Het
Vmn2r17 T A 5: 109,601,175 (GRCm39) F824L probably damaging Het
Xdh A T 17: 74,250,885 (GRCm39) N22K probably benign Het
Zc3h11a A C 1: 133,565,151 (GRCm39) N249K probably benign Het
Zwilch T A 9: 64,068,206 (GRCm39) D203V probably damaging Het
Other mutations in Plpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0625:Plpbp UTSW 8 27,535,159 (GRCm39) missense probably damaging 1.00
R1770:Plpbp UTSW 8 27,543,326 (GRCm39) missense probably damaging 0.98
R1835:Plpbp UTSW 8 27,539,259 (GRCm39) missense probably damaging 0.99
R6659:Plpbp UTSW 8 27,542,307 (GRCm39) missense possibly damaging 0.47
R6857:Plpbp UTSW 8 27,535,454 (GRCm39) missense possibly damaging 0.81
R7190:Plpbp UTSW 8 27,541,325 (GRCm39) missense probably benign
R7719:Plpbp UTSW 8 27,535,974 (GRCm39) missense
R8112:Plpbp UTSW 8 27,536,069 (GRCm39) missense unknown
R8302:Plpbp UTSW 8 27,539,216 (GRCm39) missense
R8755:Plpbp UTSW 8 27,535,165 (GRCm39) critical splice donor site probably null
X0013:Plpbp UTSW 8 27,543,317 (GRCm39) nonsense probably null
X0066:Plpbp UTSW 8 27,543,317 (GRCm39) nonsense probably null
Posted On 2015-04-16