Incidental Mutation 'R0625:Plpbp'
ID 57423
Institutional Source Beutler Lab
Gene Symbol Plpbp
Ensembl Gene ENSMUSG00000031485
Gene Name pyridoxal phosphate binding protein
Synonyms 2200002F22Rik, Prosc
MMRRC Submission 038814-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.840) question?
Stock # R0625 (G1)
Quality Score 100
Status Not validated
Chromosome 8
Chromosomal Location 27532583-27546160 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27535159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 68 (N68I)
Ref Sequence ENSEMBL: ENSMUSP00000147943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033873] [ENSMUST00000033875] [ENSMUST00000098851] [ENSMUST00000209525] [ENSMUST00000209856]
AlphaFold Q9Z2Y8
Predicted Effect probably benign
Transcript: ENSMUST00000033873
SMART Domains Protein: ENSMUSP00000033873
Gene: ENSMUSG00000031483

DomainStartEndE-ValueType
PHB 21 187 1.62e-36 SMART
low complexity region 235 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000033875
AA Change: N68I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033875
Gene: ENSMUSG00000031485
AA Change: N68I

DomainStartEndE-ValueType
Pfam:Ala_racemase_N 16 251 5.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098851
AA Change: N68I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096450
Gene: ENSMUSG00000031485
AA Change: N68I

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 damaging
Transcript: ENSMUST00000209525
AA Change: N68I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209555
Predicted Effect unknown
Transcript: ENSMUST00000210765
AA Change: N8I
Predicted Effect unknown
Transcript: ENSMUST00000211518
AA Change: N59I
Predicted Effect unknown
Transcript: ENSMUST00000211393
AA Change: N65I
Predicted Effect probably damaging
Transcript: ENSMUST00000209856
AA Change: N68I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000210141
AA Change: N34I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210225
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik T C 9: 53,319,365 (GRCm39) S2P probably benign Het
Abca16 A C 7: 120,035,116 (GRCm39) T301P probably damaging Het
Acer2 A G 4: 86,805,399 (GRCm39) D121G possibly damaging Het
Adgrd1 T C 5: 129,248,995 (GRCm39) probably null Het
Arhgap11a T C 2: 113,672,056 (GRCm39) I249V probably benign Het
Arhgap22 A G 14: 33,088,671 (GRCm39) E219G probably benign Het
C2cd4b T A 9: 67,667,033 (GRCm39) S10T probably benign Het
Cnot6 A T 11: 49,573,998 (GRCm39) I224N probably damaging Het
Ctrc T C 4: 141,568,829 (GRCm39) T125A probably damaging Het
Cxxc5 T G 18: 35,991,642 (GRCm39) S14R unknown Het
Cyp4f37 T G 17: 32,853,652 (GRCm39) F445L probably damaging Het
Dcbld1 T G 10: 52,188,946 (GRCm39) I186S probably benign Het
Dmxl2 T C 9: 54,289,986 (GRCm39) T2510A probably benign Het
Dnah3 A G 7: 119,671,110 (GRCm39) I591T possibly damaging Het
Dock5 A T 14: 68,078,612 (GRCm39) I204N probably benign Het
Dysf G A 6: 84,088,969 (GRCm39) probably null Het
Erich5 A G 15: 34,471,515 (GRCm39) E248G probably damaging Het
Fhip1a A G 3: 85,637,807 (GRCm39) V164A possibly damaging Het
Foxm1 A G 6: 128,350,834 (GRCm39) S712G probably damaging Het
Frmpd1 A G 4: 45,284,055 (GRCm39) T959A probably benign Het
Gfra4 C T 2: 130,882,176 (GRCm39) V277I probably null Het
Hacd4 T C 4: 88,353,247 (GRCm39) I82V probably benign Het
Itih2 C T 2: 10,128,225 (GRCm39) V159I possibly damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Marchf11 A G 15: 26,311,129 (GRCm39) I202V probably damaging Het
Marchf3 A G 18: 56,944,902 (GRCm39) probably null Het
Med12l G A 3: 59,154,858 (GRCm39) E1135K probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlx T C 11: 100,978,608 (GRCm39) L78P possibly damaging Het
Muc5b T C 7: 141,400,164 (GRCm39) C473R unknown Het
N4bp2l1 T A 5: 150,500,210 (GRCm39) R66* probably null Het
Nes A G 3: 87,884,479 (GRCm39) T913A possibly damaging Het
Oas1a T C 5: 121,037,322 (GRCm39) E235G probably damaging Het
Or5p56 T C 7: 107,590,396 (GRCm39) S275P probably damaging Het
Or8b1c T C 9: 38,384,504 (GRCm39) S154P possibly damaging Het
Or8i2 T A 2: 86,851,964 (GRCm39) H308L probably benign Het
Parn C T 16: 13,458,158 (GRCm39) V286I probably benign Het
Paxip1 G A 5: 27,970,940 (GRCm39) Q470* probably null Het
Phc2 C G 4: 128,617,503 (GRCm39) H510D possibly damaging Het
Pla2g4f T A 2: 120,135,522 (GRCm39) D384V probably damaging Het
Podxl2 G A 6: 88,826,937 (GRCm39) A123V possibly damaging Het
Pole A T 5: 110,473,416 (GRCm39) T1737S possibly damaging Het
Ppp3cc T C 14: 70,462,476 (GRCm39) E396G probably damaging Het
Pramel7 T A 2: 87,321,352 (GRCm39) I228F probably benign Het
Prl7d1 A T 13: 27,894,123 (GRCm39) C149S probably benign Het
Qtrt1 G T 9: 21,329,584 (GRCm39) M217I probably benign Het
Sec24a T A 11: 51,620,281 (GRCm39) D456V probably damaging Het
Shox2 T G 3: 66,888,877 (GRCm39) probably null Het
Skint2 T A 4: 112,481,283 (GRCm39) S49T probably damaging Het
Smarca5 A G 8: 81,447,315 (GRCm39) probably null Het
Sorcs2 T A 5: 36,181,916 (GRCm39) D1068V possibly damaging Het
Tmem114 T C 16: 8,229,966 (GRCm39) probably null Het
Ttc7b T A 12: 100,321,305 (GRCm39) M24L probably benign Het
Ttll3 A G 6: 113,385,864 (GRCm39) probably null Het
Usp7 C T 16: 8,522,846 (GRCm39) D102N probably benign Het
Other mutations in Plpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Plpbp APN 8 27,535,952 (GRCm39) missense probably benign 0.02
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
Predicted Primers PCR Primer
(F):5'- AGCACCTGTCTCATGTGCCCAAAC -3'
(R):5'- AGAACGAGTCAGAAGCCTGGTAGTC -3'

Sequencing Primer
(F):5'- gtttgtttgtttgttttgtttgtttg -3'
(R):5'- TCTCCCAACAGttcttttttttttc -3'
Posted On 2013-07-11