Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Pnkd'

369401

Institutional Source

Beutler Lab

Gene Symbol

Pnkd

Ensembl Gene

ENSMUSG00000026179

Gene Name

paroxysmal nonkinesiogenic dyskinesia

Synonyms

2210013N15Rik, 2810403H05Rik, Brp17

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R4811 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

74324089-74392853 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 74388564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027370] [ENSMUST00000087225] [ENSMUST00000087226]

AlphaFold

Q69ZP3

Predicted Effect

probably null
Transcript: ENSMUST00000027370

SMART Domains

Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	4	79	1e-24	BLAST
Lactamase_B	129	291	1.05e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087225

SMART Domains

Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000087226

SMART Domains

Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179

Domain	Start	End	E-Value	Type
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: 98.4%
10x: 96.5%
20x: 93.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,952 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,201,740 (GRCm39)	G208R	probably benign	Het
Arsg	G	T	11: 109,424,898 (GRCm39)	V290L	probably benign	Het
Cad	A	G	5: 31,232,034 (GRCm39)	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020 (GRCm39)	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,877 (GRCm39)	T113A	probably benign	Het
Crocc2	G	A	1: 93,133,618 (GRCm39)	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,764,080 (GRCm39)	T291A	probably benign	Het
Dcc	T	A	18: 71,432,554 (GRCm39)	H1300L	probably benign	Het
Ddx23	T	A	15: 98,545,352 (GRCm39)		probably null	Het
Dnhd1	T	G	7: 105,363,488 (GRCm39)	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,293,703 (GRCm39)	F729L	probably damaging	Het
Ercc6	G	T	14: 32,296,886 (GRCm39)	R1292L	probably benign	Het
Fam186b	C	T	15: 99,178,118 (GRCm39)	V403M	probably benign	Het
Fam227a	T	C	15: 79,499,628 (GRCm39)	N576D	possibly damaging	Het
Fbln1	A	G	15: 85,111,167 (GRCm39)		probably null	Het
Fbxw17	T	C	13: 50,579,669 (GRCm39)	V162A	probably benign	Het
Gas2l1	A	C	11: 5,014,436 (GRCm39)	I8S	probably damaging	Het
Golgb1	T	C	16: 36,711,781 (GRCm39)	L195P	probably damaging	Het
Gps2	A	T	11: 69,806,754 (GRCm39)	H233L	probably damaging	Het
Guf1	T	G	5: 69,721,852 (GRCm39)		probably null	Het
H2-T9	A	G	17: 36,438,668 (GRCm39)	L241S	probably damaging	Het
Il1rap	T	A	16: 26,519,988 (GRCm39)		probably null	Het
Ints14	A	G	9: 64,871,800 (GRCm39)	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,177,339 (GRCm39)	Q293H	probably damaging	Het
Kank2	A	G	9: 21,687,043 (GRCm39)	L593P	probably damaging	Het
Krt19	T	C	11: 100,032,174 (GRCm39)	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,437,848 (GRCm39)	V86A	probably damaging	Het
Lins1	T	A	7: 66,357,898 (GRCm39)	I11K	probably benign	Het
Lrba	T	C	3: 86,683,448 (GRCm39)	F2757L	probably damaging	Het
Lyst	T	C	13: 13,951,685 (GRCm39)	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,525,851 (GRCm39)	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,853,175 (GRCm39)	Q38L	probably benign	Het
Mtss1	A	G	15: 58,815,922 (GRCm39)	F546S	probably damaging	Het
Myo5a	G	A	9: 75,048,825 (GRCm39)		probably null	Het
Naip6	C	A	13: 100,422,299 (GRCm39)	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,584,645 (GRCm39)	T107I	probably benign	Het
Nek8	C	T	11: 78,058,544 (GRCm39)		probably null	Het
Nphs1	T	C	7: 30,159,854 (GRCm39)	V55A	probably damaging	Het
Nrp2	C	A	1: 62,758,240 (GRCm39)	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,933,448 (GRCm39)	S39N	probably damaging	Het
Or13g1	T	C	7: 85,956,166 (GRCm39)	T52A	probably benign	Het
Or2y1e	T	G	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or5d37	A	G	2: 87,923,876 (GRCm39)	F135L	probably benign	Het
Or7h8	A	T	9: 20,124,049 (GRCm39)	I135F	probably damaging	Het
Pan3	T	A	5: 147,466,868 (GRCm39)	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,243,842 (GRCm39)	S291A	probably benign	Het
Pcdh17	A	C	14: 84,685,375 (GRCm39)	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,830,606 (GRCm39)	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,844 (GRCm39)	E126*	probably null	Het
Pik3ap1	A	G	19: 41,290,936 (GRCm39)	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,071,738 (GRCm39)	I186T	probably damaging	Het
Poc1a	A	G	9: 106,226,908 (GRCm39)	T334A	probably damaging	Het
Pou2f2	T	A	7: 24,797,111 (GRCm39)	K211*	probably null	Het
Rdh13	T	C	7: 4,445,652 (GRCm39)	E94G	probably benign	Het
Rnf186	A	G	4: 138,694,498 (GRCm39)	S13G	probably benign	Het
Ryr2	T	C	13: 11,670,584 (GRCm39)	R3471G	probably damaging	Het
Sbf2	T	C	7: 109,971,742 (GRCm39)	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,316,403 (GRCm39)		probably benign	Het
Shoc1	T	C	4: 59,082,404 (GRCm39)	N408S	probably benign	Het
Snn	T	C	16: 10,890,397 (GRCm39)	V72A	probably benign	Het
Sys1	T	A	2: 164,306,344 (GRCm39)	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,412,931 (GRCm39)	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,396,311 (GRCm39)	L550Q	probably damaging	Het
Tent5b	T	C	4: 133,213,681 (GRCm39)	L184P	probably benign	Het
Thoc1	T	C	18: 9,993,438 (GRCm39)	I599T	probably damaging	Het
Tle3	C	T	9: 61,281,279 (GRCm39)		probably benign	Het
Tll1	A	C	8: 64,538,507 (GRCm39)	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,621 (GRCm39)	E78K	probably benign	Het
Tpgs2	A	G	18: 25,262,897 (GRCm39)		probably benign	Het
Trpm1	T	C	7: 63,858,054 (GRCm39)	L165P	probably damaging	Het
Trpm5	T	C	7: 142,633,956 (GRCm39)	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,570,551 (GRCm39)	S1201A	possibly damaging	Het
Ust	T	A	10: 8,121,705 (GRCm39)	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,647,249 (GRCm39)	F543L	probably benign	Het
Yeats2	T	A	16: 19,971,645 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,745 (GRCm39)	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het
Znrf3	A	T	11: 5,237,420 (GRCm39)	C134S	probably benign	Het

Other mutations in Pnkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4714:Pnkd	UTSW	1	74,390,941 (GRCm39)	missense	probably damaging	1.00
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'- TCCAAAAGGGTCATGGGAGC -3'
(R):5'- CTGAGATCACAGCCTTCCTC -3'

Sequencing Primer
(F):5'- TCATGGGAGCATAGCAAGTTG -3'
(R):5'- GAGATCACAGCCTTCCTCTTCTGAC -3'

Posted On

2016-02-04