Incidental Mutation 'R2090:Pmvk'
ID 231692
Institutional Source Beutler Lab
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
MMRRC Submission 040095-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R2090 (G1)
Quality Score 179
Status Validated
Chromosome 3
Chromosomal Location 89361848-89376320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89369189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 11 (R11S)
Ref Sequence ENSEMBL: ENSMUSP00000139116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029564] [ENSMUST00000107410] [ENSMUST00000184515] [ENSMUST00000198440]
AlphaFold Q9D1G2
Predicted Effect possibly damaging
Transcript: ENSMUST00000029564
AA Change: R32S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: R32S

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 124 1.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107410
AA Change: R32S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103033
Gene: ENSMUSG00000027952
AA Change: R32S

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 129 9.3e-57 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000184515
AA Change: R11S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: R11S

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198440
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 1 54 5.6e-19 PFAM
Meta Mutation Damage Score 0.5604 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,391,456 (GRCm39) probably null Het
Adcy7 A T 8: 89,042,485 (GRCm39) T451S probably damaging Het
Adgrg3 A T 8: 95,766,558 (GRCm39) T410S possibly damaging Het
Alg11 G T 8: 22,555,646 (GRCm39) L302F possibly damaging Het
Ankrd17 A G 5: 90,445,905 (GRCm39) V310A possibly damaging Het
Atg16l2 C T 7: 100,942,575 (GRCm39) probably null Het
B3gnt2 A G 11: 22,786,291 (GRCm39) V299A probably benign Het
Birc6 A G 17: 74,969,791 (GRCm39) N4258S probably benign Het
C2cd4d A G 3: 94,271,321 (GRCm39) K196E probably benign Het
Calhm6 A G 10: 34,002,358 (GRCm39) S242P probably damaging Het
Cdr2l A G 11: 115,281,827 (GRCm39) K111E probably damaging Het
Crtam T C 9: 40,895,612 (GRCm39) Q41R possibly damaging Het
Cspp1 A G 1: 10,160,493 (GRCm39) K560R possibly damaging Het
Dcaf15 A T 8: 84,824,400 (GRCm39) Y571* probably null Het
Defa39 A T 8: 22,192,805 (GRCm39) W64R possibly damaging Het
Dpy19l4 T C 4: 11,304,344 (GRCm39) Y99C probably benign Het
Edem3 C T 1: 151,680,577 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,405 (GRCm39) probably null Het
Foxf2 T A 13: 31,810,824 (GRCm39) D254E probably benign Het
Gjb5 T C 4: 127,249,794 (GRCm39) N117D probably benign Het
Glmn G A 5: 107,709,794 (GRCm39) L337F probably damaging Het
Gsdmc2 T A 15: 63,698,675 (GRCm39) Y307F probably benign Het
Gsdmc3 T A 15: 63,738,631 (GRCm39) M144L probably benign Het
Ibtk A G 9: 85,603,046 (GRCm39) I653T probably benign Het
Il24 T G 1: 130,812,574 (GRCm39) D99A possibly damaging Het
Intu A G 3: 40,637,966 (GRCm39) Q484R probably benign Het
Iqca1l A G 5: 24,755,674 (GRCm39) S283P probably benign Het
Lsp1 T C 7: 142,045,544 (GRCm39) probably benign Het
Mad1l1 A G 5: 139,995,011 (GRCm39) S672P probably benign Het
Man2a2 A T 7: 80,013,858 (GRCm39) probably benign Het
Morc3 C A 16: 93,663,341 (GRCm39) H515N probably benign Het
Nav1 T C 1: 135,534,903 (GRCm39) probably benign Het
Ndor1 A G 2: 25,139,230 (GRCm39) L247P probably damaging Het
Nfkbiz A T 16: 55,636,818 (GRCm39) F494L probably benign Het
Nr1d1 G A 11: 98,661,436 (GRCm39) P277S probably damaging Het
Nrg2 T C 18: 36,151,496 (GRCm39) D682G probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Oasl1 G A 5: 115,073,993 (GRCm39) D301N probably damaging Het
Or10ag56 A T 2: 87,139,762 (GRCm39) I230F probably benign Het
Or14a258 A T 7: 86,035,289 (GRCm39) I193N probably benign Het
Or5h26 A G 16: 58,988,503 (GRCm39) M1T probably null Het
Palmd A G 3: 116,721,083 (GRCm39) S123P probably damaging Het
Patj A G 4: 98,325,560 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,655 (GRCm39) D162G probably benign Het
Plppr5 A G 3: 117,369,520 (GRCm39) D59G possibly damaging Het
Pnliprp1 A G 19: 58,728,901 (GRCm39) T363A probably benign Het
Poll A T 19: 45,547,277 (GRCm39) I65N probably benign Het
Prox1 T A 1: 189,893,009 (GRCm39) S479C probably damaging Het
Prss50 A T 9: 110,691,361 (GRCm39) S222C probably damaging Het
Rasa3 A C 8: 13,632,381 (GRCm39) probably benign Het
Sec14l3 T C 11: 4,025,481 (GRCm39) V335A probably benign Het
Setbp1 C T 18: 78,899,935 (GRCm39) S1244N probably benign Het
Sgcg A T 14: 61,483,213 (GRCm39) F63I probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc2a13 T A 15: 91,400,695 (GRCm39) I176F probably benign Het
Smc6 A G 12: 11,339,987 (GRCm39) T432A probably benign Het
Snx25 G A 8: 46,509,150 (GRCm39) P478L probably damaging Het
Taf2 A T 15: 54,879,882 (GRCm39) H1151Q probably damaging Het
Thsd1 A G 8: 22,749,673 (GRCm39) K795R possibly damaging Het
Tmem108 G A 9: 103,361,976 (GRCm39) L537F possibly damaging Het
Ubr3 T C 2: 69,766,361 (GRCm39) Y410H probably damaging Het
Vav3 T C 3: 109,555,055 (GRCm39) probably null Het
Vmn1r224 T C 17: 20,639,524 (GRCm39) Y34H probably benign Het
Zeb1 T C 18: 5,766,458 (GRCm39) V323A possibly damaging Het
Zfp652 A G 11: 95,644,834 (GRCm39) D240G probably benign Het
Zfp963 A T 8: 70,195,996 (GRCm39) C152* probably null Het
Other mutations in Pmvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Pmvk APN 3 89,374,890 (GRCm39) missense probably damaging 1.00
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
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'- ATGCCTTCTGCCTGTTCAGG -3'
(R):5'- AAGATAGGACATCAGATCTAGACTCTC -3'

Sequencing Primer
(F):5'- AGGGCTCTTTTATATGCCTTTGAC -3'
(R):5'- TCTTGAGCCAGTGACTCAAG -3'
Posted On 2014-09-18