Incidental Mutation 'R3508:Pnkd'
ID267438
Institutional Source Beutler Lab
Gene Symbol Pnkd
Ensembl Gene ENSMUSG00000026179
Gene Nameparoxysmal nonkinesiogenic dyskinesia
Synonyms2810403H05Rik, Brp17, 2210013N15Rik
MMRRC Submission 040664-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #R3508 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location74284930-74353694 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74350634 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 306 (T306A)
Ref Sequence ENSEMBL: ENSMUSP00000084478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027370] [ENSMUST00000087225] [ENSMUST00000087226]
Predicted Effect probably benign
Transcript: ENSMUST00000027370
AA Change: T267A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: T267A

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: T242A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179
AA Change: T242A

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: T306A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: T306A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A T 13: 59,742,505 Y500* probably null Het
Abca8a A T 11: 110,063,165 F816L probably benign Het
Adgrl3 C A 5: 81,724,256 N932K probably damaging Het
Apol8 T C 15: 77,749,443 E311G probably damaging Het
Atad2b G A 12: 4,950,595 probably null Het
Carmil1 A G 13: 24,019,676 probably benign Het
Cdc20b T C 13: 113,081,042 S332P possibly damaging Het
Cep162 A G 9: 87,231,977 probably null Het
Cfap54 T A 10: 92,885,424 S2482C unknown Het
Cnpy1 T C 5: 28,207,367 E107G probably damaging Het
Crtac1 C T 19: 42,304,741 V310I probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,741,236 probably null Het
Elmo1 T C 13: 20,605,232 I706T probably damaging Het
F12 T C 13: 55,421,059 T297A probably benign Het
Fanci A G 7: 79,433,472 I736V probably benign Het
Fbn1 T C 2: 125,306,327 N2667S probably benign Het
Flt4 T C 11: 49,634,114 S596P probably damaging Het
Fndc1 G A 17: 7,765,108 R1329* probably null Het
Gjd4 G T 18: 9,280,811 S89* probably null Het
H2-M10.1 T G 17: 36,325,614 R99S possibly damaging Het
Homer3 T A 8: 70,291,355 V243D probably benign Het
Hspa14 A G 2: 3,491,008 S437P probably damaging Het
Inpp1 A T 1: 52,799,391 I33N probably damaging Het
Ipo5 T A 14: 120,939,544 Y714N probably damaging Het
Kif27 T C 13: 58,313,212 E898G possibly damaging Het
Klhdc7b T A 15: 89,386,892 M1K probably null Het
Krt83 A G 15: 101,488,158 Y241H probably benign Het
Mfsd4b1 A G 10: 40,002,719 I394T probably benign Het
Micall1 A G 15: 79,122,765 D264G probably damaging Het
Mms22l T G 4: 24,586,224 D905E probably benign Het
Musk A G 4: 58,327,347 D217G probably damaging Het
Napb T C 2: 148,698,960 T236A probably benign Het
Nbn T A 4: 15,962,387 D38E probably damaging Het
Ncaph T C 2: 127,127,193 N87D probably benign Het
Olfr1251 A G 2: 89,667,472 V138A probably benign Het
Pcdhb13 T A 18: 37,443,151 V194E probably damaging Het
Pck1 T C 2: 173,158,384 V536A possibly damaging Het
Pld5 C T 1: 175,994,037 G188S probably damaging Het
Plekha8 T C 6: 54,613,194 V48A probably damaging Het
Ppm1k T C 6: 57,514,990 E279G probably damaging Het
Ppm1l G T 3: 69,549,480 K243N possibly damaging Het
Ppp1r13b T C 12: 111,872,367 T26A probably damaging Het
Rtel1 T C 2: 181,322,409 V67A probably benign Het
Rxfp4 T C 3: 88,652,592 E184G probably damaging Het
Scp2d1 A G 2: 144,823,998 I86V probably benign Het
Sec16a G T 2: 26,425,850 P1718Q probably damaging Het
Sgcg T A 14: 61,221,746 T245S probably benign Het
Slc18a2 A G 19: 59,273,557 T215A probably benign Het
Sorcs1 G A 19: 50,225,175 R705C probably damaging Het
Sox17 G T 1: 4,492,155 P146Q probably damaging Het
Sybu T A 15: 44,673,082 E616V probably damaging Het
Tk2 C T 8: 104,231,193 V174I probably benign Het
Tmc5 G A 7: 118,645,395 V499I probably benign Het
Tmem110 C T 14: 30,872,580 L217F probably damaging Het
Tonsl T C 15: 76,639,756 T15A probably benign Het
Ttll12 A G 15: 83,580,630 I448T probably damaging Het
Ttn A G 2: 76,753,757 S22336P probably damaging Het
Ubap1 C A 4: 41,379,163 H126N probably damaging Het
Upf1 C T 8: 70,338,460 R544H probably damaging Het
Vmn2r84 T C 10: 130,390,908 N354D probably damaging Het
Vpreb3 A C 10: 75,949,203 H45P probably benign Het
Zc3h13 T A 14: 75,308,940 Y160* probably null Het
Other mutations in Pnkd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Pnkd APN 1 74285922 missense probably damaging 1.00
IGL01322:Pnkd APN 1 74351557 missense probably damaging 1.00
IGL02536:Pnkd APN 1 74351900 missense probably damaging 1.00
IGL02712:Pnkd APN 1 74349868 missense possibly damaging 0.62
R0731:Pnkd UTSW 1 74351541 missense probably damaging 1.00
R0741:Pnkd UTSW 1 74351859 missense possibly damaging 0.56
R1483:Pnkd UTSW 1 74349391 missense probably benign 0.08
R1497:Pnkd UTSW 1 74351522 splice site probably null
R1515:Pnkd UTSW 1 74349809 missense probably null 1.00
R1759:Pnkd UTSW 1 74348763 missense probably damaging 0.98
R1969:Pnkd UTSW 1 74351849 missense probably damaging 0.97
R1970:Pnkd UTSW 1 74285910 unclassified probably null
R4714:Pnkd UTSW 1 74351782 missense probably damaging 1.00
R4811:Pnkd UTSW 1 74349405 splice site probably null
R5437:Pnkd UTSW 1 74349737 missense possibly damaging 0.61
R5931:Pnkd UTSW 1 74350674 missense probably benign
R6698:Pnkd UTSW 1 74350677 missense probably damaging 1.00
R6994:Pnkd UTSW 1 74293176 intron probably null
Predicted Primers PCR Primer
(F):5'- CTGTCTTGGAGAAAGGAGCATGTC -3'
(R):5'- ATGAGCTGAGCTTGCCAGTC -3'

Sequencing Primer
(F):5'- ATGTCTGCCCACCAAGTCTG -3'
(R):5'- CTGAGCTTGCCAGTCTCTAGGAAAG -3'
Posted On2015-02-18