Incidental Mutation 'R8755:Plpbp'
ID 664110
Institutional Source Beutler Lab
Gene Symbol Plpbp
Ensembl Gene ENSMUSG00000031485
Gene Name pyridoxal phosphate binding protein
Synonyms 2200002F22Rik, Prosc
MMRRC Submission 068596-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.840) question?
Stock # R8755 (G1)
Quality Score 206.009
Status Not validated
Chromosome 8
Chromosomal Location 27532583-27546160 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 27535165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000033875
SMART Domains Protein: ENSMUSP00000033875
Gene: ENSMUSG00000031485

DomainStartEndE-ValueType
Pfam:Ala_racemase_N 16 251 5.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098851
SMART Domains Protein: ENSMUSP00000096450
Gene: ENSMUSG00000031485

DomainStartEndE-ValueType
Pfam:Ala_racemase_N 15 138 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209525
Predicted Effect probably benign
Transcript: ENSMUST00000209856
Predicted Effect probably benign
Transcript: ENSMUST00000210141
Predicted Effect probably benign
Transcript: ENSMUST00000210765
Predicted Effect probably null
Transcript: ENSMUST00000211393
Predicted Effect probably benign
Transcript: ENSMUST00000211518
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,255,520 (GRCm39) D86E probably benign Het
Akap3 A G 6: 126,843,130 (GRCm39) D583G possibly damaging Het
Alms1 T A 6: 85,598,556 (GRCm39) D1127E probably benign Het
Anks4b T A 7: 119,773,307 (GRCm39) probably null Het
Ano8 A T 8: 71,935,724 (GRCm39) F298Y probably benign Het
Arhgef2 C A 3: 88,536,850 (GRCm39) Q7K probably benign Het
Brd10 T C 19: 29,693,890 (GRCm39) I1868V probably benign Het
Cand2 T C 6: 115,769,941 (GRCm39) L917P probably damaging Het
Car8 T C 4: 8,238,083 (GRCm39) D44G probably benign Het
Cdk1 T C 10: 69,176,435 (GRCm39) N224S probably benign Het
Cep162 T C 9: 87,114,064 (GRCm39) E336G probably benign Het
Chd7 T C 4: 8,866,069 (GRCm39) M2792T probably benign Het
Cyp4f40 A T 17: 32,886,957 (GRCm39) K143* probably null Het
Cyth1 T A 11: 118,074,768 (GRCm39) M178L probably benign Het
Dcaf11 C T 14: 55,798,023 (GRCm39) probably benign Het
Dlec1 T G 9: 118,967,225 (GRCm39) W1203G probably damaging Het
Fgd4 A T 16: 16,302,133 (GRCm39) S141T probably benign Het
Firrm A G 1: 163,786,895 (GRCm39) S725P probably damaging Het
Flg2 T A 3: 93,108,120 (GRCm39) D49E probably damaging Het
Fyb2 T A 4: 104,861,086 (GRCm39) D647E unknown Het
Gstp1 T C 19: 4,086,698 (GRCm39) Y109C probably damaging Het
Gtf3c3 T C 1: 54,468,031 (GRCm39) E202G probably benign Het
Hephl1 A G 9: 14,985,563 (GRCm39) F698L probably benign Het
Hephl1 G T 9: 15,023,280 (GRCm39) P41T probably damaging Het
Hmcn1 T A 1: 150,509,371 (GRCm39) E3659V probably benign Het
Il27ra A T 8: 84,765,988 (GRCm39) D229E probably damaging Het
Itih2 T A 2: 10,103,369 (GRCm39) D706V probably damaging Het
Itpr2 A T 6: 146,133,926 (GRCm39) C1893S probably benign Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Laptm4b A G 15: 34,273,420 (GRCm39) D111G probably damaging Het
Ldb3 T A 14: 34,299,256 (GRCm39) S123C probably damaging Het
Lgals12 C T 19: 7,581,345 (GRCm39) E121K possibly damaging Het
Mmp13 T A 9: 7,277,996 (GRCm39) S296R possibly damaging Het
Mpeg1 T C 19: 12,439,238 (GRCm39) F232S probably damaging Het
Ncapd2 A T 6: 125,148,817 (GRCm39) C990S possibly damaging Het
Nckap5 A T 1: 125,954,279 (GRCm39) C758S possibly damaging Het
Nwd1 A T 8: 73,394,192 (GRCm39) D485V probably damaging Het
Or13a21 T G 7: 139,999,417 (GRCm39) S90R probably benign Het
Or6c2 T C 10: 129,362,332 (GRCm39) F79L possibly damaging Het
Or8g50 T A 9: 39,648,786 (GRCm39) I225N probably damaging Het
Pcgf3 G A 5: 108,634,108 (GRCm39) R122Q probably benign Het
Pgm5 T A 19: 24,812,212 (GRCm39) I107F probably damaging Het
Pid1 G T 1: 84,016,066 (GRCm39) H114N probably damaging Het
Pkdrej T C 15: 85,703,807 (GRCm39) T710A probably benign Het
Ppfibp2 T G 7: 107,343,432 (GRCm39) F824V probably damaging Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
Psg17 T A 7: 18,550,836 (GRCm39) T340S possibly damaging Het
Pstpip2 T C 18: 77,961,133 (GRCm39) S239P probably damaging Het
Ralbp1 A C 17: 66,166,036 (GRCm39) S383A possibly damaging Het
Ranbp2 T A 10: 58,300,969 (GRCm39) L613* probably null Het
Rgs11 T C 17: 26,422,346 (GRCm39) V49A probably damaging Het
Ryr1 C T 7: 28,791,693 (GRCm39) V1404I probably benign Het
Secisbp2 G A 13: 51,833,869 (GRCm39) V670I possibly damaging Het
Slc22a13 T A 9: 119,038,126 (GRCm39) M1L probably damaging Het
Slc5a1 A T 5: 33,316,526 (GRCm39) I591L probably benign Het
Tacr2 T A 10: 62,088,733 (GRCm39) V46E possibly damaging Het
Tet2 C T 3: 133,194,039 (GRCm39) G132S probably damaging Het
Thsd7a G A 6: 12,408,851 (GRCm39) R724* probably null Het
Tmco3 A T 8: 13,341,782 (GRCm39) I19L probably benign Het
Tnfrsf1a T A 6: 125,334,768 (GRCm39) L14Q probably benign Het
Tpm1 A T 9: 66,935,371 (GRCm39) L248Q probably benign Het
Tprn T A 2: 25,154,027 (GRCm39) I443N probably benign Het
Unc80 A T 1: 66,651,290 (GRCm39) H1545L possibly damaging Het
Vmn2r97 T A 17: 19,168,104 (GRCm39) M786K probably damaging Het
Wipi1 C T 11: 109,494,645 (GRCm39) V63M probably damaging Het
Zcchc4 G A 5: 52,976,724 (GRCm39) R506H unknown Het
Zfand6 A T 7: 84,281,899 (GRCm39) V110E probably benign Het
Zfp866 A T 8: 70,219,381 (GRCm39) Y80N possibly damaging Het
Other mutations in Plpbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Plpbp APN 8 27,535,952 (GRCm39) missense probably benign 0.02
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
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'- ACAATGTGTATCTAACTGGGACAAG -3'
(R):5'- GTAGTCACTACTCTCCCAACAG -3'

Sequencing Primer
(F):5'- GTATCTAACTGGGACAAGATTCCAC -3'
(R):5'- TTTCTTTTCTTGGTTTTTCGAGACAG -3'
Posted On 2021-03-08