Incidental Mutation 'IGL01322:Pnkd'
ID 74076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pnkd
Ensembl Gene ENSMUSG00000026179
Gene Name paroxysmal nonkinesiogenic dyskinesia
Synonyms 2210013N15Rik, 2810403H05Rik, Brp17
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL01322
Quality Score
Status
Chromosome 1
Chromosomal Location 74324089-74392853 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74390716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 336 (N336D)
Ref Sequence ENSEMBL: ENSMUSP00000084478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027370] [ENSMUST00000087225] [ENSMUST00000087226]
AlphaFold Q69ZP3
Predicted Effect probably damaging
Transcript: ENSMUST00000027370
AA Change: N297D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: N297D

DomainStartEndE-ValueType
Blast:Lactamase_B 4 79 1e-24 BLAST
Lactamase_B 129 291 1.05e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000087225
AA Change: N272D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179
AA Change: N272D

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: N336D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: N336D

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or14c43 T A 7: 86,115,480 (GRCm39) I287N probably damaging Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Pnkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Pnkd APN 1 74,325,081 (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
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
Posted On 2013-10-07