Incidental Mutation 'R4714:Pnkd'
ID 353411
Institutional Source Beutler Lab
Gene Symbol Pnkd
Ensembl Gene ENSMUSG00000026179
Gene Name paroxysmal nonkinesiogenic dyskinesia
Synonyms 2210013N15Rik, 2810403H05Rik, Brp17
MMRRC Submission 041956-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R4714 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 74324089-74392853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74390941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 376 (R376C)
Ref Sequence ENSEMBL: ENSMUSP00000084478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027370] [ENSMUST00000087225] [ENSMUST00000087226]
AlphaFold Q69ZP3
Predicted Effect probably benign
Transcript: ENSMUST00000027370
AA Change: R337C

PolyPhen 2 Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: R337C

DomainStartEndE-ValueType
Blast:Lactamase_B 4 79 1e-24 BLAST
Lactamase_B 129 291 1.05e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000087225
AA Change: R312C

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179
AA Change: R312C

DomainStartEndE-ValueType
transmembrane domain 6 28 N/A INTRINSIC
transmembrane domain 49 68 N/A INTRINSIC
Lactamase_B 104 266 1.05e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087226
AA Change: R376C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: R376C

DomainStartEndE-ValueType
low complexity region 43 61 N/A INTRINSIC
Pfam:DUF4748 71 121 2.9e-23 PFAM
Lactamase_B 168 330 1.05e-31 SMART
Pfam:HAGH_C 331 421 6.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138620
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930486L24Rik A G 13: 60,992,132 (GRCm39) V298A probably damaging Het
Abca12 A G 1: 71,360,609 (GRCm39) V534A probably benign Het
Abcb4 A G 5: 8,980,906 (GRCm39) probably null Het
Adam30 A T 3: 98,070,170 (GRCm39) S668C probably damaging Het
Ap1g1 T A 8: 110,556,252 (GRCm39) V196D probably damaging Het
Atp11b G A 3: 35,888,543 (GRCm39) V738I probably benign Het
Cast C T 13: 74,946,834 (GRCm39) V27I probably damaging Het
Cfap54 A G 10: 92,651,780 (GRCm39) I3090T probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Champ1 T C 8: 13,928,063 (GRCm39) Y74H probably damaging Het
Cpm T C 10: 117,511,890 (GRCm39) I278T probably damaging Het
Dcaf15 T C 8: 84,828,845 (GRCm39) T141A probably benign Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Defb8 A G 8: 19,497,575 (GRCm39) L12P probably damaging Het
Dlg1 A T 16: 31,609,079 (GRCm39) I225F probably damaging Het
Dync2h1 G T 9: 7,118,932 (GRCm39) H2178N possibly damaging Het
Enam A G 5: 88,651,395 (GRCm39) E893G probably damaging Het
Flt4 T A 11: 49,518,034 (GRCm39) L358Q probably damaging Het
Frmpd1 A G 4: 45,284,785 (GRCm39) Q1202R probably benign Het
Ghr T A 15: 3,349,879 (GRCm39) D433V possibly damaging Het
Grm7 G A 6: 111,057,383 (GRCm39) D328N possibly damaging Het
Haus4 T C 14: 54,779,577 (GRCm39) D349G probably benign Het
Helz T C 11: 107,517,542 (GRCm39) probably null Het
Hif3a A G 7: 16,790,196 (GRCm39) L69P probably damaging Het
Ifit1 A G 19: 34,625,563 (GRCm39) E233G probably damaging Het
Kcnc2 T C 10: 112,291,733 (GRCm39) F307S possibly damaging Het
Lrp1b A T 2: 41,000,771 (GRCm39) V2151E possibly damaging Het
Lrp5 T C 19: 3,709,454 (GRCm39) N92S probably damaging Het
Metrnl C T 11: 121,606,839 (GRCm39) A216V probably damaging Het
Msh2 A G 17: 88,026,217 (GRCm39) T732A probably damaging Het
Necab2 T C 8: 120,194,334 (GRCm39) L270P probably damaging Het
Noc3l T C 19: 38,804,157 (GRCm39) K74E probably benign Het
Oas2 A T 5: 120,871,537 (GRCm39) L702Q probably damaging Het
Or1j1 A T 2: 36,703,047 (GRCm39) I19N probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or4k1 A G 14: 50,377,436 (GRCm39) I220T possibly damaging Het
Or4k6 C A 14: 50,475,824 (GRCm39) V173L possibly damaging Het
Or6c216 A T 10: 129,678,814 (GRCm39) N32K probably damaging Het
Pax6 A G 2: 105,525,745 (GRCm39) H376R possibly damaging Het
Pnpla8 T C 12: 44,342,696 (GRCm39) F484S probably damaging Het
Psme4 T A 11: 30,782,573 (GRCm39) H909Q probably benign Het
Rasip1 CGG CGGG 7: 45,281,820 (GRCm39) probably null Het
Rbm47 A T 5: 66,182,395 (GRCm39) Y413N probably damaging Het
Rnf123 A G 9: 107,929,638 (GRCm39) probably null Het
Ruvbl1 T A 6: 88,461,412 (GRCm39) M259K possibly damaging Het
Sohlh2 A G 3: 55,097,950 (GRCm39) H134R probably benign Het
Sorbs2 A G 8: 46,248,330 (GRCm39) D447G possibly damaging Het
Tank C T 2: 61,480,573 (GRCm39) P370S probably benign Het
Tenm4 A G 7: 96,544,131 (GRCm39) E2049G probably damaging Het
Tnik A G 3: 28,648,226 (GRCm39) H426R possibly damaging Het
Trpm6 C A 19: 18,831,564 (GRCm39) S1476R possibly damaging Het
Trpm7 G A 2: 126,682,703 (GRCm39) Q389* probably null Het
Ttc28 G A 5: 111,433,095 (GRCm39) R2043Q possibly damaging Het
Tymp A G 15: 89,260,510 (GRCm39) S103P probably damaging Het
Usp40 C T 1: 87,894,901 (GRCm39) probably null Het
Vmn1r202 T A 13: 22,685,977 (GRCm39) N147Y probably damaging Het
Vmn2r89 T C 14: 51,689,688 (GRCm39) S64P probably damaging Het
Vps13a A T 19: 16,727,220 (GRCm39) D229E probably benign Het
Vps52 A G 17: 34,180,153 (GRCm39) I354V probably benign Het
Zbtb8os T C 4: 129,235,557 (GRCm39) F90L probably damaging Het
Zfp36l1 T C 12: 80,157,270 (GRCm39) D37G possibly damaging Het
Zfp467 A G 6: 48,404,751 (GRCm39) S109P unknown Het
Zzef1 T A 11: 72,728,038 (GRCm39) C535S probably damaging Het
Other mutations in Pnkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Pnkd APN 1 74,325,081 (GRCm39) missense probably damaging 1.00
IGL01322:Pnkd APN 1 74,390,716 (GRCm39) missense probably damaging 1.00
IGL02536:Pnkd APN 1 74,391,059 (GRCm39) missense probably damaging 1.00
IGL02712:Pnkd APN 1 74,389,027 (GRCm39) missense possibly damaging 0.62
R0731:Pnkd UTSW 1 74,390,700 (GRCm39) missense probably damaging 1.00
R0741:Pnkd UTSW 1 74,391,018 (GRCm39) missense possibly damaging 0.56
R1483:Pnkd UTSW 1 74,388,550 (GRCm39) missense probably benign 0.08
R1497:Pnkd UTSW 1 74,390,681 (GRCm39) splice site probably null
R1515:Pnkd UTSW 1 74,388,968 (GRCm39) missense probably null 1.00
R1759:Pnkd UTSW 1 74,387,922 (GRCm39) missense probably damaging 0.98
R1969:Pnkd UTSW 1 74,391,008 (GRCm39) missense probably damaging 0.97
R1970:Pnkd UTSW 1 74,325,069 (GRCm39) splice site probably null
R3508:Pnkd UTSW 1 74,389,793 (GRCm39) missense probably benign 0.01
R4811:Pnkd UTSW 1 74,388,564 (GRCm39) splice site probably null
R5437:Pnkd UTSW 1 74,388,896 (GRCm39) missense possibly damaging 0.61
R5931:Pnkd UTSW 1 74,389,833 (GRCm39) missense probably benign
R6698:Pnkd UTSW 1 74,389,836 (GRCm39) missense probably damaging 1.00
R6994:Pnkd UTSW 1 74,332,335 (GRCm39) splice site probably null
R9124:Pnkd UTSW 1 74,386,602 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGAGAACCTGGGCTTTGCAG -3'
(R):5'- AGGATTAGTGCTGCCTAGGG -3'

Sequencing Primer
(F):5'- TGGTGGAGCCCGAGAACTTG -3'
(R):5'- TGGTATTAGTGATGAAGAGGATGG -3'
Posted On 2015-10-21