Incidental Mutation 'R5337:Pmvk'
ID 423556
Institutional Source Beutler Lab
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
MMRRC Submission 042917-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R5337 (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 89375878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
Ref Sequence ENSEMBL: ENSMUSP00000139116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029564] [ENSMUST00000107410] [ENSMUST00000184515] [ENSMUST00000198440]
AlphaFold Q9D1G2
Predicted Effect probably benign
Transcript: ENSMUST00000029564
AA Change: V167A

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: V167A

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: V146A

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: V146A

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198440
AA Change: V92A

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952
AA Change: V92A

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 1 54 5.6e-19 PFAM
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 T A 11: 77,409,665 (GRCm39) probably null Het
Akap8l A G 17: 32,555,368 (GRCm39) M237T possibly damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Api5 G T 2: 94,256,033 (GRCm39) A218E possibly damaging Het
Bltp2 T A 11: 78,156,034 (GRCm39) I182N possibly damaging Het
Cfap68 C A 9: 50,677,049 (GRCm39) C14F probably benign Het
Cftr A G 6: 18,319,058 (GRCm39) D1336G probably damaging Het
Chd1l G A 3: 97,469,932 (GRCm39) R865W probably damaging Het
Cimip2b C T 4: 43,427,687 (GRCm39) probably null Het
Cmya5 T C 13: 93,219,781 (GRCm39) K3223E probably benign Het
Cspg4b T A 13: 113,455,299 (GRCm39) H448Q probably damaging Het
Cuzd1 A G 7: 130,917,803 (GRCm39) Y266H probably damaging Het
Dnajc5b A T 3: 19,628,946 (GRCm39) Y80F probably damaging Het
Dock6 A G 9: 21,740,844 (GRCm39) S915P possibly damaging Het
Fat4 T A 3: 38,945,776 (GRCm39) D1556E probably damaging Het
Fat4 A G 3: 39,064,527 (GRCm39) T4828A probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gja3 T G 14: 57,273,289 (GRCm39) D361A probably benign Het
Gpr155 T C 2: 73,178,592 (GRCm39) E704G probably benign Het
Greb1l A G 18: 10,509,143 (GRCm39) E485G probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
H6pd A G 4: 150,066,241 (GRCm39) V715A probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnip1 T G 11: 33,592,389 (GRCm39) probably benign Het
Kif21b T C 1: 136,098,881 (GRCm39) S1390P probably damaging Het
Lrrc61 G A 6: 48,545,308 (GRCm39) V44M probably damaging Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mgat5 T C 1: 127,387,658 (GRCm39) F538S possibly damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndst1 A T 18: 60,823,079 (GRCm39) L829Q probably damaging Het
Neto1 A T 18: 86,416,434 (GRCm39) H47L probably benign Het
Or10ak11 T C 4: 118,686,863 (GRCm39) Y258C probably benign Het
Or10p22 A G 10: 128,826,548 (GRCm39) T256A probably benign Het
Or51r1 T C 7: 102,228,481 (GRCm39) S260P probably damaging Het
Or5p61 A T 7: 107,758,480 (GRCm39) V200D probably benign Het
Or6c214 A T 10: 129,590,403 (GRCm39) C305* probably null Het
Pds5b T C 5: 150,717,062 (GRCm39) F1120L probably benign Het
Phkb A G 8: 86,604,874 (GRCm39) Y93C probably damaging Het
Pilra C T 5: 137,834,032 (GRCm39) probably benign Het
Proz T A 8: 13,116,854 (GRCm39) D135E probably benign Het
Psg23 A T 7: 18,345,997 (GRCm39) W233R probably benign Het
Rgl2 A T 17: 34,153,958 (GRCm39) I455F probably damaging Het
Rhpn1 A G 15: 75,580,054 (GRCm39) Q39R probably benign Het
Rims4 T G 2: 163,707,763 (GRCm39) M100L probably benign Het
Sacs T A 14: 61,430,963 (GRCm39) probably benign Het
Slfn4 T C 11: 83,080,055 (GRCm39) F189L probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Tmem127 T C 2: 127,098,065 (GRCm39) Y129H probably damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Trpc3 A T 3: 36,692,519 (GRCm39) probably benign Het
Tsga10ip A T 19: 5,444,363 (GRCm39) S23T probably benign Het
Tut7 G A 13: 59,939,666 (GRCm39) T695I probably damaging Het
Uspl1 T C 5: 149,151,556 (GRCm39) S720P probably damaging Het
Zc3h18 A G 8: 123,113,641 (GRCm39) D211G probably damaging Het
Zswim4 G A 8: 84,961,708 (GRCm39) P55L 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
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'- CAGAGTGATTTCATCAGGGGC -3'
(R):5'- CACTACTCACGAGCATCCTG -3'

Sequencing Primer
(F):5'- ATTTCATCAGGGGCTGCCTG -3'
(R):5'- TGGCAAGCCAGACTGTCTGTC -3'
Posted On 2016-08-04