Incidental Mutation 'R5842:Pmvk'
ID 450482
Institutional Source Beutler Lab
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R5842 (G1)
Quality Score 146
Status Not validated
Chromosome 3
Chromosomal Location 89361848-89376320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89374927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 108 (V108D)
Ref Sequence ENSEMBL: ENSMUSP00000139116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029564] [ENSMUST00000107410] [ENSMUST00000184515] [ENSMUST00000198440]
AlphaFold Q9D1G2
Predicted Effect probably damaging
Transcript: ENSMUST00000029564
AA Change: V129D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: V129D

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 124 1.4e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107410
AA Change: V129D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103033
Gene: ENSMUSG00000027952
AA Change: V129D

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 129 9.3e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184515
AA Change: V108D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: V108D

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198440
AA Change: V54D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952
AA Change: V54D

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 1 54 5.6e-19 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Jakmip1 C T 5: 37,264,612 (GRCm39) R418C probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Pacc1 G T 1: 191,078,986 (GRCm39) C223F probably damaging Het
Parp9 A G 16: 35,763,778 (GRCm39) I19V possibly damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tgm2 C T 2: 157,985,001 (GRCm39) R35H probably damaging Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A possibly 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
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
R8207:Pmvk UTSW 3 89,375,899 (GRCm39) missense probably benign 0.00
R9443:Pmvk UTSW 3 89,374,956 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATCATGCTTCCTGGCAGGTG -3'
(R):5'- ATTCCTCAGGCCTCAGGTTC -3'

Sequencing Primer
(F):5'- ACCATTGCTCTGGCTTCAGTAG -3'
(R):5'- GGCCTCAGGTTCCCCTTTACAG -3'
Posted On 2016-12-20