Incidental Mutation 'R2962:Pdxk'
ID 255930
Institutional Source Beutler Lab
Gene Symbol Pdxk
Ensembl Gene ENSMUSG00000032788
Gene Name pyridoxal (pyridoxine, vitamin B6) kinase
Synonyms 2310036D04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2962 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 78272581-78300782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78279667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 236 (L236P)
Ref Sequence ENSEMBL: ENSMUSP00000038540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041616]
AlphaFold Q8K183
Predicted Effect probably damaging
Transcript: ENSMUST00000041616
AA Change: L236P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038540
Gene: ENSMUSG00000032788
AA Change: L236P

DomainStartEndE-ValueType
Pfam:Phos_pyr_kin 69 285 1.4e-18 PFAM
Pfam:PfkB 95 277 1.3e-9 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000101024
Gene: ENSMUSG00000032788
AA Change: L236P

DomainStartEndE-ValueType
Pfam:PfkB 4 259 1.6e-32 PFAM
Pfam:Phos_pyr_kin 70 252 3.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218544
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd24a A G 10: 43,455,313 (GRCm39) T22A probably benign Het
Cdk5rap2 ATGTG ATG 4: 70,208,214 (GRCm39) probably null Het
Cog3 A G 14: 75,977,974 (GRCm39) probably null Het
Gm3371 A T 14: 44,646,155 (GRCm39) N103K probably benign Het
Gpd2 C T 2: 57,228,987 (GRCm39) R264* probably null Het
Hoxc10 A G 15: 102,875,735 (GRCm39) Y148C probably damaging Het
Jade1 C G 3: 41,567,762 (GRCm39) T610S probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl7 T C 5: 113,385,922 (GRCm39) V123A possibly damaging Het
Malt1 A G 18: 65,581,406 (GRCm39) H278R probably benign Het
Mlxip C A 5: 123,578,887 (GRCm39) R178S probably damaging Het
Or13a25 A T 7: 140,247,862 (GRCm39) M214L probably benign Het
Plekhg3 G A 12: 76,619,433 (GRCm39) probably null Het
Rufy2 G T 10: 62,836,039 (GRCm39) V323F probably damaging Het
Serpinb7 A G 1: 107,379,456 (GRCm39) T288A probably benign Het
Tet1 A T 10: 62,650,323 (GRCm39) C1628* probably null Het
Tgtp2 A G 11: 48,950,363 (GRCm39) S70P probably damaging Het
Trank1 C T 9: 111,181,148 (GRCm39) T390I probably damaging Het
Trim31 T C 17: 37,210,796 (GRCm39) S143P probably damaging Het
Ube3c C A 5: 29,863,416 (GRCm39) A897D possibly damaging Het
Unc79 A T 12: 103,061,378 (GRCm39) T1050S possibly damaging Het
Zfr G A 15: 12,162,319 (GRCm39) R823H probably benign Het
Other mutations in Pdxk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02556:Pdxk APN 10 78,287,319 (GRCm39) missense probably damaging 1.00
R1434:Pdxk UTSW 10 78,276,645 (GRCm39) missense probably benign 0.01
R1572:Pdxk UTSW 10 78,283,814 (GRCm39) missense probably damaging 1.00
R1719:Pdxk UTSW 10 78,279,730 (GRCm39) missense probably benign
R1970:Pdxk UTSW 10 78,276,988 (GRCm39) missense probably damaging 1.00
R4094:Pdxk UTSW 10 78,300,644 (GRCm39) missense probably damaging 1.00
R4095:Pdxk UTSW 10 78,300,644 (GRCm39) missense probably damaging 1.00
R4613:Pdxk UTSW 10 78,283,753 (GRCm39) missense probably damaging 0.99
R4686:Pdxk UTSW 10 78,282,837 (GRCm39) splice site probably null
R4783:Pdxk UTSW 10 78,300,626 (GRCm39) missense possibly damaging 0.72
R4980:Pdxk UTSW 10 78,287,318 (GRCm39) missense probably damaging 1.00
R5076:Pdxk UTSW 10 78,286,141 (GRCm39) missense probably benign
R5847:Pdxk UTSW 10 78,280,872 (GRCm39) missense probably benign
R6145:Pdxk UTSW 10 78,279,625 (GRCm39) missense probably benign 0.44
R7109:Pdxk UTSW 10 78,282,810 (GRCm39) missense probably damaging 1.00
R7399:Pdxk UTSW 10 78,276,697 (GRCm39) missense probably benign 0.00
R7445:Pdxk UTSW 10 78,283,801 (GRCm39) missense probably benign
R7629:Pdxk UTSW 10 78,280,840 (GRCm39) missense probably benign
R7700:Pdxk UTSW 10 78,279,764 (GRCm39) splice site probably null
R7936:Pdxk UTSW 10 78,277,012 (GRCm39) missense possibly damaging 0.93
R8178:Pdxk UTSW 10 78,289,338 (GRCm39) missense probably damaging 0.99
R8780:Pdxk UTSW 10 78,283,786 (GRCm39) missense probably benign 0.04
R8783:Pdxk UTSW 10 78,287,339 (GRCm39) missense probably benign 0.06
R8964:Pdxk UTSW 10 78,283,771 (GRCm39) missense probably benign 0.17
R9658:Pdxk UTSW 10 78,287,403 (GRCm39) missense probably benign 0.07
Z1176:Pdxk UTSW 10 78,277,022 (GRCm39) missense probably damaging 1.00
Z1177:Pdxk UTSW 10 78,279,739 (GRCm39) missense probably benign 0.33
Z1189:Pdxk UTSW 10 78,280,895 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- GTAAACATGGTCCCCTCCAC -3'
(R):5'- ACAAGTTGGGCTGATAGGTTC -3'

Sequencing Primer
(F):5'- CACAGACTCTTGGCTCAGG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2014-12-29