Incidental Mutation 'R3034:Pmvk'
ID 264774
Institutional Source Beutler Lab
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
MMRRC Submission 040550-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R3034 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89361848-89376320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89375824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000143154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029564] [ENSMUST00000107410] [ENSMUST00000184515] [ENSMUST00000198440]
AlphaFold Q9D1G2
Predicted Effect probably damaging
Transcript: ENSMUST00000029564
AA Change: V149A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: V149A

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 possibly damaging
Transcript: ENSMUST00000184515
AA Change: V128A

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: V128A

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198440
AA Change: V74A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952
AA Change: V74A

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 1 54 5.6e-19 PFAM
Meta Mutation Damage Score 0.1264 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (44/44)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e T C 11: 70,207,079 (GRCm39) I576V probably benign Het
Apol7a T G 15: 77,273,923 (GRCm39) I180L probably benign Het
Aptx T C 4: 40,694,994 (GRCm39) N114S probably benign Het
Bltp3a T A 17: 28,113,720 (GRCm39) D1297E probably damaging Het
Cd40 T A 2: 164,904,235 (GRCm39) S65R probably benign Het
Cdh23 C T 10: 60,244,789 (GRCm39) probably benign Het
Coro7 G A 16: 4,450,155 (GRCm39) R565W probably damaging Het
Cpt1a C T 19: 3,428,390 (GRCm39) T588M probably damaging Het
Defb23 A G 2: 152,301,189 (GRCm39) S128P possibly damaging Het
Dgki G A 6: 37,064,605 (GRCm39) H250Y probably damaging Het
Fgr T C 4: 132,725,807 (GRCm39) probably null Het
Fkbp15 T C 4: 62,225,129 (GRCm39) probably null Het
Gpr137c C T 14: 45,457,733 (GRCm39) S95L probably damaging Het
Kirrel1 T C 3: 86,990,746 (GRCm39) D692G possibly damaging Het
Krt1 C A 15: 101,759,068 (GRCm39) R32L unknown Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mbl1 C A 14: 40,880,790 (GRCm39) S226Y probably damaging Het
Mrps28 T A 3: 8,988,675 (GRCm39) D61V probably benign Het
Mthfd1 A G 12: 76,336,244 (GRCm39) K299E probably benign Het
Myo1b A G 1: 51,812,406 (GRCm39) Y738H possibly damaging Het
Myo5c A G 9: 75,193,859 (GRCm39) T1205A probably benign Het
Nfatc2 C T 2: 168,376,940 (GRCm39) G317S probably damaging Het
Nln C T 13: 104,173,947 (GRCm39) V525I possibly damaging Het
Nrap T C 19: 56,352,437 (GRCm39) E549G probably damaging Het
Nwd2 T A 5: 63,957,446 (GRCm39) Y259N probably damaging Het
Oas3 T C 5: 120,909,121 (GRCm39) D275G probably damaging Het
Or14a256 A T 7: 86,264,970 (GRCm39) D294E possibly damaging Het
Ovch2 A G 7: 107,384,699 (GRCm39) S473P probably damaging Het
Pde8b T A 13: 95,359,275 (GRCm39) Y16F probably damaging Het
Pmfbp1 A T 8: 110,247,553 (GRCm39) probably null Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,390,881 (GRCm39) T202S unknown Het
Rheb C T 5: 25,008,721 (GRCm39) E166K probably damaging Het
Rnf5 A G 17: 34,822,332 (GRCm39) V39A possibly damaging Het
Scn7a T C 2: 66,513,152 (GRCm39) Y1168C probably damaging Het
Tas2r114 A G 6: 131,666,611 (GRCm39) I139T probably benign Het
Tma7 T C 9: 108,911,274 (GRCm39) probably benign Het
Tmem181a T A 17: 6,330,901 (GRCm39) S13T possibly damaging Het
Tmem62 C T 2: 120,809,605 (GRCm39) probably benign Het
Trim71 T C 9: 114,341,912 (GRCm39) D790G probably damaging Het
Trp53tg5 T C 2: 164,313,219 (GRCm39) K152R probably benign Het
Zdbf2 C A 1: 63,343,364 (GRCm39) A581E 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
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'- AACAGTGTCAAGCCCTTTCGG -3'
(R):5'- ATCTGGCAGAACCACTGTTC -3'

Sequencing Primer
(F):5'- GTCTGCAGTTGTTGATCCAGTC -3'
(R):5'- AACCACTGTTCGCCAGG -3'
Posted On 2015-02-05