Incidental Mutation 'R8207:Pmvk'
ID 635950
Institutional Source Beutler Lab
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
MMRRC Submission 067630-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R8207 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 89361848-89376320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89375899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 174 (E174G)
Ref Sequence ENSEMBL: ENSMUSP00000029564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029564] [ENSMUST00000107410] [ENSMUST00000184515] [ENSMUST00000198440]
AlphaFold Q9D1G2
Predicted Effect probably benign
Transcript: ENSMUST00000029564
AA Change: E174G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: E174G

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 124 1.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107410
SMART Domains Protein: ENSMUSP00000103033
Gene: ENSMUSG00000027952

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 129 9.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184515
AA Change: E153G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: E153G

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198440
AA Change: E99G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952
AA Change: E99G

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 1 54 5.6e-19 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,552,491 (GRCm39) M150I possibly damaging Het
Arhgef11 A G 3: 87,606,082 (GRCm39) N279S possibly damaging Het
Arid3a T C 10: 79,786,760 (GRCm39) probably null Het
Casp8ap2 A G 4: 32,646,446 (GRCm39) T1840A possibly damaging Het
Ccdc14 T A 16: 34,525,413 (GRCm39) N235K possibly damaging Het
Cdh20 T C 1: 109,922,076 (GRCm39) V56A probably damaging Het
Clec16a G A 16: 10,512,574 (GRCm39) R837H probably damaging Het
Clec16a A G 16: 10,445,312 (GRCm39) N518S probably benign Het
Cog7 T C 7: 121,576,515 (GRCm39) D137G possibly damaging Het
Cpt1b T C 15: 89,303,018 (GRCm39) T649A probably damaging Het
Efcab8 C G 2: 153,631,145 (GRCm39) L192V probably damaging Het
Farp2 A G 1: 93,548,965 (GRCm39) R1024G probably benign Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fmo1 T A 1: 162,677,676 (GRCm39) T147S probably benign Het
Fryl A C 5: 73,257,843 (GRCm39) probably null Het
Galnt13 A C 2: 54,770,122 (GRCm39) I305L probably benign Het
Guca2a A G 4: 119,494,951 (GRCm39) N2D unknown Het
Iqcd C T 5: 120,740,514 (GRCm39) R282W probably damaging Het
Lamc1 A C 1: 153,126,268 (GRCm39) C475G probably damaging Het
Map3k5 AAAAGAAAAAGA AA 10: 19,986,612 (GRCm39) probably null Het
Med13 A T 11: 86,194,375 (GRCm39) D789E probably damaging Het
Mn1 A G 5: 111,569,651 (GRCm39) Y1207C probably damaging Het
Mroh2b A G 15: 4,967,892 (GRCm39) D977G possibly damaging Het
Mrpl53 A T 6: 83,086,169 (GRCm39) N26I probably damaging Het
Nell1 A T 7: 49,869,760 (GRCm39) probably null Het
Ogdh T G 11: 6,299,329 (GRCm39) F743V probably benign Het
Or4d10b A T 19: 12,036,222 (GRCm39) M298K possibly damaging Het
Or4n4 C T 14: 50,519,036 (GRCm39) V225I probably benign Het
Or6c3 A G 10: 129,308,953 (GRCm39) T131A probably benign Het
Plscr1l1 T A 9: 92,233,061 (GRCm39) F61L probably benign Het
Pou6f2 T C 13: 18,414,158 (GRCm39) N206D Het
Prelid3a A T 18: 67,606,018 (GRCm39) S42C probably benign Het
Riok1 T A 13: 38,236,296 (GRCm39) H347Q probably damaging Het
Ryr1 A G 7: 28,789,650 (GRCm39) L1488P probably damaging Het
Shkbp1 A G 7: 27,052,109 (GRCm39) V158A probably benign Het
Slc9c1 A G 16: 45,360,076 (GRCm39) I43M possibly damaging Het
Smarca2 A G 19: 26,654,080 (GRCm39) N755S possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tfb2m G A 1: 179,373,668 (GRCm39) P10L probably benign Het
Trim30c T C 7: 104,032,703 (GRCm39) M252V probably benign Het
Ttll1 A G 15: 83,384,279 (GRCm39) L116P probably damaging Het
Tubd1 C T 11: 86,440,248 (GRCm39) H91Y possibly damaging Het
Vgll4 A G 6: 114,839,786 (GRCm39) S175P probably damaging Het
Vmn1r79 A G 7: 11,910,415 (GRCm39) Y99C possibly damaging Het
Vmn2r80 C T 10: 79,030,150 (GRCm39) Q659* probably null Het
Zfp382 A G 7: 29,833,840 (GRCm39) D497G possibly damaging Het
Zfp41 A G 15: 75,490,384 (GRCm39) E112G probably damaging Het
Zfyve26 A G 12: 79,307,605 (GRCm39) S1754P probably damaging Het
Other mutations in Pmvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Pmvk APN 3 89,374,890 (GRCm39) missense probably damaging 1.00
R2090:Pmvk UTSW 3 89,369,189 (GRCm39) missense possibly damaging 0.53
R3034:Pmvk UTSW 3 89,375,824 (GRCm39) missense probably damaging 0.99
R5337:Pmvk UTSW 3 89,375,878 (GRCm39) missense probably benign 0.36
R5469:Pmvk UTSW 3 89,374,989 (GRCm39) critical splice donor site probably null
R5842:Pmvk UTSW 3 89,374,927 (GRCm39) missense probably damaging 1.00
R5877:Pmvk UTSW 3 89,371,676 (GRCm39) missense probably benign 0.25
R7657:Pmvk UTSW 3 89,376,158 (GRCm39) missense possibly damaging 0.89
R9443:Pmvk UTSW 3 89,374,956 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGATTTCATCAGGGGCTGC -3'
(R):5'- CACTACTCACGAGCATCCTG -3'

Sequencing Primer
(F):5'- GCTGCCTGGGAGCTCAG -3'
(R):5'- TCACGAGCATCCTGCCCAG -3'
Posted On 2020-07-13