Incidental Mutation 'R9443:Pmvk'
ID 713730
Institutional Source Beutler Lab
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R9443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89361848-89376320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89374956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 139 (Q139K)
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: Q139K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: Q139K

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 124 1.4e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107410
AA Change: Q139K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000103033
Gene: ENSMUSG00000027952
AA Change: Q139K

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 129 9.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184515
AA Change: Q118K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: Q118K

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198440
AA Change: Q64K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952
AA Change: Q64K

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: 98.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 T C 3: 37,146,140 (GRCm39) Y503H probably benign Het
Adck1 T C 12: 88,338,550 (GRCm39) probably null Het
Afap1l1 T C 18: 61,879,859 (GRCm39) D337G probably damaging Het
Afg1l G A 10: 42,189,587 (GRCm39) T448M probably damaging Het
Aqp6 T C 15: 99,499,409 (GRCm39) S41P Het
Atad5 T G 11: 80,023,388 (GRCm39) V1500G probably benign Het
B3galt9 C T 2: 34,728,623 (GRCm39) Q141* probably null Het
Btbd18 T A 2: 84,497,524 (GRCm39) D387E probably benign Het
Catsperd A G 17: 56,969,720 (GRCm39) N605D possibly damaging Het
Ccdc24 C T 4: 117,728,355 (GRCm39) V102I probably benign Het
Cenpe T A 3: 134,976,609 (GRCm39) D2405E probably damaging Het
Cfap46 T C 7: 139,195,023 (GRCm39) D2249G Het
Chrm1 A T 19: 8,655,550 (GRCm39) Y85F possibly damaging Het
Clstn3 C T 6: 124,428,358 (GRCm39) G465S probably damaging Het
Col7a1 G A 9: 108,785,059 (GRCm39) G262D unknown Het
Copg2 T C 6: 30,750,578 (GRCm39) T736A probably benign Het
Coro2b T C 9: 62,333,080 (GRCm39) E435G probably benign Het
Cp A T 3: 20,033,083 (GRCm39) I637F possibly damaging Het
Cpne7 T C 8: 123,853,411 (GRCm39) F239L probably damaging Het
Cstdc2 C T 2: 148,689,878 (GRCm39) E92K probably damaging Het
Cul2 T A 18: 3,434,041 (GRCm39) Y679* probably null Het
Dhx8 T C 11: 101,655,740 (GRCm39) Y1158H probably damaging Het
Eda G T X: 99,019,775 (GRCm39) R130L unknown Het
Elp6 T A 9: 110,150,004 (GRCm39) V265D probably damaging Het
Eomes A G 9: 118,313,640 (GRCm39) T562A Het
Fam187b A T 7: 30,677,067 (GRCm39) E192V probably damaging Het
Foxi1 T C 11: 34,155,671 (GRCm39) T320A probably benign Het
Gga1 C T 15: 78,765,247 (GRCm39) T18I possibly damaging Het
Grik4 T A 9: 42,571,037 (GRCm39) M223L probably benign Het
Hdac7 T C 15: 97,700,352 (GRCm39) N594S probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Itpr3 T G 17: 27,324,523 (GRCm39) F1235C probably damaging Het
Klhdc4 A G 8: 122,523,765 (GRCm39) S484P possibly damaging Het
Kmt2c A G 5: 25,515,045 (GRCm39) S2933P probably damaging Het
Lama5 T A 2: 179,843,522 (GRCm39) H475L probably benign Het
Ly6g6f A G 17: 35,299,826 (GRCm39) L292P possibly damaging Het
Macf1 T A 4: 123,365,668 (GRCm39) Q3031L probably benign Het
Mbd5 T G 2: 49,146,712 (GRCm39) S307R probably damaging Het
Mertk T C 2: 128,604,029 (GRCm39) F388L probably benign Het
Mmp11 A G 10: 75,762,733 (GRCm39) F240S probably damaging Het
Mroh1 T A 15: 76,318,964 (GRCm39) F949I probably damaging Het
Mroh2b T C 15: 4,973,821 (GRCm39) L1113P probably damaging Het
Ndufv1 C A 19: 4,057,614 (GRCm39) A454S probably benign Het
Or13e8 A G 4: 43,696,591 (GRCm39) L194P probably damaging Het
Or56b2j T C 7: 104,352,821 (GRCm39) S16P probably benign Het
Or5d46 T A 2: 88,170,364 (GRCm39) W152R probably damaging Het
Osbpl1a C A 18: 13,031,244 (GRCm39) D329Y probably benign Het
Pcdh1 C A 18: 38,330,633 (GRCm39) R929L probably damaging Het
Phactr2 C T 10: 13,122,841 (GRCm39) R427K probably benign Het
Pip5k1c T C 10: 81,153,184 (GRCm39) Y670H probably damaging Het
Plbd1 T A 6: 136,611,555 (GRCm39) N241Y probably damaging Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Rab3gap2 T A 1: 184,967,523 (GRCm39) C136S probably damaging Het
Rcor3 A G 1: 191,786,050 (GRCm39) V396A probably damaging Het
Rgs20 C A 1: 4,982,629 (GRCm39) E147* probably null Het
Rnf167 G T 11: 70,540,777 (GRCm39) L170F probably damaging Het
Scn9a T C 2: 66,395,553 (GRCm39) T164A probably damaging Het
Skic3 A G 13: 76,266,288 (GRCm39) Q210R probably benign Het
Slc52a3 A T 2: 151,846,299 (GRCm39) I87F probably benign Het
Sntn A T 14: 13,682,364 (GRCm38) M146L Het
Svep1 C T 4: 58,179,697 (GRCm39) R182H possibly damaging Het
Taar7f A G 10: 23,926,311 (GRCm39) I302V probably benign Het
Tm4sf20 T C 1: 82,746,090 (GRCm39) I17V probably benign Het
Traf1 T C 2: 34,836,748 (GRCm39) T270A probably benign Het
Trpm5 C T 7: 142,638,860 (GRCm39) E304K probably benign Het
Ttll8 T C 15: 88,809,863 (GRCm39) D311G possibly damaging Het
Unc79 T A 12: 103,037,035 (GRCm39) F608I probably damaging Het
Vmn2r11 A T 5: 109,195,159 (GRCm39) C722* probably null Het
Wdr7 A G 18: 63,853,407 (GRCm39) T36A probably damaging Het
Ybx2 C T 11: 69,831,188 (GRCm39) P261L Het
Zfp101 C T 17: 33,601,418 (GRCm39) V113I probably benign Het
Zfp260 T C 7: 29,804,249 (GRCm39) S50P probably benign Het
Zfp319 A T 8: 96,054,922 (GRCm39) F427Y probably benign Het
Zfp369 T C 13: 65,444,347 (GRCm39) S497P 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
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
Predicted Primers PCR Primer
(F):5'- CCATTGCTCTGGCTTCAGTAG -3'
(R):5'- CAGCCAAAGGAGACACTCTATG -3'

Sequencing Primer
(F):5'- TTCAGTAGCGGGGCTCC -3'
(R):5'- GGAGACACTCTATGAACTTGACCTTC -3'
Posted On 2022-06-15