Incidental Mutation 'R1483:Pnkd'
ID 165670
Institutional Source Beutler Lab
Gene Symbol Pnkd
Ensembl Gene ENSMUSG00000026179
Gene Name paroxysmal nonkinesiogenic dyskinesia
Synonyms 2210013N15Rik, 2810403H05Rik, Brp17
MMRRC Submission 039536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R1483 (G1)
Quality Score 215
Status Not validated
Chromosome 1
Chromosomal Location 74324089-74392853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74388550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 242 (Y242C)
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: Y203C

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: Y203C

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: Y178C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179
AA Change: Y178C

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 benign
Transcript: ENSMUST00000087226
AA Change: Y242C

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: Y242C

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.0%
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
Adam12 T A 7: 133,531,754 (GRCm39) T494S probably benign Het
Akap6 C T 12: 52,842,870 (GRCm39) P73S probably damaging Het
Amotl2 A T 9: 102,608,096 (GRCm39) T763S probably benign Het
Brd10 G A 19: 29,696,745 (GRCm39) P916L possibly damaging Het
Cdc5l A T 17: 45,719,290 (GRCm39) V541D possibly damaging Het
Chl1 A G 6: 103,624,248 (GRCm39) Y52C probably damaging Het
D6Wsu163e A G 6: 126,931,733 (GRCm39) E255G probably benign Het
Ddhd2 A G 8: 26,243,155 (GRCm39) S126P probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Drc3 A G 11: 60,279,715 (GRCm39) I427V probably benign Het
Drg2 T C 11: 60,350,353 (GRCm39) I104T probably damaging Het
Dst C T 1: 34,292,079 (GRCm39) A932V probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Eif3a A T 19: 60,757,164 (GRCm39) D880E unknown Het
Elf1 T A 14: 79,818,078 (GRCm39) D569E probably benign Het
Esp6 T A 17: 40,873,816 (GRCm39) M1K probably null Het
Fer1l6 T C 15: 58,509,819 (GRCm39) V1427A possibly damaging Het
Gsta1 A T 9: 78,149,775 (GRCm39) K196M probably damaging Het
Gzme T A 14: 56,356,169 (GRCm39) I110F probably damaging Het
H2-DMa T A 17: 34,354,724 (GRCm39) V27E possibly damaging Het
H2-T10 A T 17: 36,432,038 (GRCm39) S2T probably benign Het
Hadhb A G 5: 30,374,492 (GRCm39) probably null Het
Hoxa11 G T 6: 52,220,436 (GRCm39) D282E probably damaging Het
Ifit1bl1 A G 19: 34,572,041 (GRCm39) Y139H possibly damaging Het
Ift27 A G 15: 78,049,436 (GRCm39) V88A possibly damaging Het
Knop1 C T 7: 118,452,273 (GRCm39) A149T probably damaging Het
Macf1 T A 4: 123,404,770 (GRCm39) K597I probably damaging Het
Med16 A T 10: 79,738,934 (GRCm39) I284N possibly damaging Het
Melk T A 4: 44,308,937 (GRCm39) I98K probably damaging Het
Mst1 G T 9: 107,958,849 (GRCm39) G127V probably benign Het
Nacad A G 11: 6,552,217 (GRCm39) S325P probably damaging Het
Nbea G A 3: 55,910,211 (GRCm39) P1328L probably benign Het
Nek5 C T 8: 22,586,806 (GRCm39) S335N probably benign Het
Nif3l1 C A 1: 58,486,885 (GRCm39) R24S probably benign Het
Nlrp14 T G 7: 106,789,329 (GRCm39) N39K possibly damaging Het
Nup50 T A 15: 84,823,928 (GRCm39) V427D probably damaging Het
Nwd1 C T 8: 73,383,714 (GRCm39) P78L probably damaging Het
Or5an9 T A 19: 12,187,114 (GRCm39) Y61* probably null Het
Pate8 G A 9: 36,492,620 (GRCm39) S95L probably benign Het
Ppm1g T C 5: 31,360,465 (GRCm39) D423G probably benign Het
Pramel32 T A 4: 88,547,071 (GRCm39) Q116L probably damaging Het
Prkci A T 3: 31,097,941 (GRCm39) N464Y probably damaging Het
Ptprf C T 4: 118,093,161 (GRCm39) V494M possibly damaging Het
Rapgef4 T G 2: 71,885,370 (GRCm39) probably null Het
Rbak T C 5: 143,160,099 (GRCm39) E318G probably damaging Het
Rora A G 9: 69,271,667 (GRCm39) D215G probably benign Het
Rp1l1 C T 14: 64,266,496 (GRCm39) T694I possibly damaging Het
Scrib A G 15: 75,929,771 (GRCm39) L1032P probably damaging Het
Sectm1b G A 11: 120,946,652 (GRCm39) T81M probably benign Het
Sgk3 T C 1: 9,942,518 (GRCm39) F97L possibly damaging Het
Socs3 A T 11: 117,858,394 (GRCm39) Y221* probably null Het
Spata31d1e A T 13: 59,890,717 (GRCm39) S368T probably damaging Het
Tdrd6 T A 17: 43,938,498 (GRCm39) H850L probably benign Het
Tex44 G T 1: 86,354,908 (GRCm39) Q272H probably damaging Het
Tgfbr2 A C 9: 115,938,625 (GRCm39) S426A probably benign Het
Tmem39b T C 4: 129,570,456 (GRCm39) Y461C probably damaging Het
Ttn T A 2: 76,555,337 (GRCm39) D30556V probably damaging Het
Tubgcp5 T A 7: 55,475,455 (GRCm39) probably null Het
Vmn2r70 T C 7: 85,208,375 (GRCm39) I701V probably benign Het
Vps39 A T 2: 120,154,129 (GRCm39) L622Q probably damaging Het
Wdfy4 T A 14: 32,822,923 (GRCm39) H1347L probably benign Het
Xpo1 A G 11: 23,234,863 (GRCm39) I540V probably benign Het
Xylt2 A C 11: 94,560,393 (GRCm39) M294R probably benign Het
Zfp788 T G 7: 41,298,499 (GRCm39) Y326* probably null Het
Zim1 A G 7: 6,685,124 (GRCm39) F109L probably benign 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
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
R4714:Pnkd UTSW 1 74,390,941 (GRCm39) missense probably damaging 1.00
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'- GAGTCCAGGTACAGTTGCCCTTTG -3'
(R):5'- ACGCTGACCACATCTTGATGACAC -3'

Sequencing Primer
(F):5'- TTTGAAGTGCCATCCCACAGG -3'
(R):5'- CACATCTTGATGACACAGGGG -3'
Posted On 2014-03-28