Mutagenetix > Incidental Mutation

Incidental Mutation 'R1497:Pnkd'

168927

Institutional Source

Beutler Lab

Gene Symbol

Pnkd

Ensembl Gene

ENSMUSG00000026179

Gene Name

paroxysmal nonkinesiogenic dyskinesia

Synonyms

2210013N15Rik, 2810403H05Rik, Brp17

MMRRC Submission

039548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R1497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74324089-74392853 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 74390681 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.8%
20x: 94.4%

Validation Efficiency

99% (79/80)

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
Abca8b	G	T	11: 109,864,647 (GRCm39)		probably benign	Het
Abhd17a	A	G	10: 80,420,164 (GRCm39)		probably benign	Het
Acacb	G	A	5: 114,334,868 (GRCm39)	E646K	probably damaging	Het
Afap1l2	T	C	19: 56,916,743 (GRCm39)	M262V	probably benign	Het
Anapc7	T	A	5: 122,573,578 (GRCm39)		probably benign	Het
Car5b	T	A	X: 162,771,400 (GRCm39)	K188N	probably benign	Het
Caskin1	C	T	17: 24,723,515 (GRCm39)	R768*	probably null	Het
Casp8ap2	T	C	4: 32,639,938 (GRCm39)	S331P	probably benign	Het
Ccdc68	C	T	18: 70,093,585 (GRCm39)		probably benign	Het
Cd44	A	T	2: 102,673,300 (GRCm39)		probably null	Het
Celsr3	A	G	9: 108,726,064 (GRCm39)	S3090G	probably benign	Het
Clasp1	A	T	1: 118,479,788 (GRCm39)	M1023L	probably benign	Het
Clec16a	T	C	16: 10,453,123 (GRCm39)	F608S	probably damaging	Het
Col7a1	A	C	9: 108,807,893 (GRCm39)	E2531A	unknown	Het
Ctc1	T	A	11: 68,913,387 (GRCm39)	C128S	probably benign	Het
Cyp2d41-ps	T	C	15: 82,666,223 (GRCm39)		noncoding transcript	Het
Cyp2j6	T	A	4: 96,419,898 (GRCm39)	I278F	probably damaging	Het
Dhtkd1	A	T	2: 5,908,924 (GRCm39)	S723R	probably damaging	Het
Dhx8	A	G	11: 101,626,213 (GRCm39)		probably benign	Het
Dnah17	A	T	11: 118,005,059 (GRCm39)	L775Q	probably damaging	Het
Dnah8	C	A	17: 30,971,049 (GRCm39)	T2701K	probably damaging	Het
Eml3	T	A	19: 8,913,733 (GRCm39)	S424R	probably damaging	Het
Epm2aip1	A	G	9: 111,101,315 (GRCm39)	E96G	possibly damaging	Het
Ezr	T	C	17: 7,010,107 (GRCm39)	H314R	probably benign	Het
Fam193b	G	T	13: 55,702,247 (GRCm39)	H43Q	probably damaging	Het
Fam217a	T	A	13: 35,095,195 (GRCm39)	N340I	probably damaging	Het
Fcrl1	A	T	3: 87,292,109 (GRCm39)	Q89H	probably damaging	Het
Flg2	A	T	3: 93,127,076 (GRCm39)	H1996L	unknown	Het
Gabpb1	C	T	2: 126,481,169 (GRCm39)	V327M	possibly damaging	Het
Gtf3c3	A	G	1: 54,477,098 (GRCm39)	V36A	probably benign	Het
Hspg2	A	G	4: 137,275,407 (GRCm39)	N2739S	probably damaging	Het
Hyal1	A	G	9: 107,455,194 (GRCm39)		probably null	Het
Ipo13	T	C	4: 117,761,856 (GRCm39)	D448G	probably benign	Het
Kcnq5	T	C	1: 21,472,610 (GRCm39)	D860G	possibly damaging	Het
Kif13b	A	G	14: 64,973,715 (GRCm39)	N355S	probably damaging	Het
Kmt2c	T	A	5: 25,519,513 (GRCm39)	H2199L	possibly damaging	Het
Magi1	A	G	6: 93,724,310 (GRCm39)	F235S	probably damaging	Het
Maml1	A	C	11: 50,156,534 (GRCm39)	M547R	possibly damaging	Het
Mapk7	T	C	11: 61,384,689 (GRCm39)	K6E	possibly damaging	Het
Mbd5	T	A	2: 49,147,393 (GRCm39)	N534K	possibly damaging	Het
Mcat	G	A	15: 83,433,453 (GRCm39)	Q34*	probably null	Het
Mcu	T	A	10: 59,284,670 (GRCm39)	D180V	probably damaging	Het
Mettl21c	G	T	1: 44,048,951 (GRCm39)	P199T	probably benign	Het
Mndal	A	T	1: 173,700,441 (GRCm39)	S177T	probably benign	Het
Mpeg1	G	T	19: 12,438,611 (GRCm39)	C23F	probably benign	Het
Mup15	T	A	4: 61,356,471 (GRCm39)	Y98F	probably benign	Het
Myh8	T	C	11: 67,180,638 (GRCm39)	S625P	probably benign	Het
Nipsnap2	T	C	5: 129,830,282 (GRCm39)		probably benign	Het
Nlrp4e	T	C	7: 23,019,797 (GRCm39)	S95P	probably benign	Het
Or1e19	T	A	11: 73,316,653 (GRCm39)	D52V	possibly damaging	Het
Or4a66	T	C	2: 88,531,106 (GRCm39)	D189G	probably damaging	Het
Otop2	A	G	11: 115,220,675 (GRCm39)		probably null	Het
Pcnx4	G	C	12: 72,621,174 (GRCm39)	G998A	probably benign	Het
Ppp4r4	T	A	12: 103,573,204 (GRCm39)	V701E	probably benign	Het
Ryr2	A	G	13: 11,616,727 (GRCm39)	I3897T	probably damaging	Het
Scn1a	T	C	2: 66,162,631 (GRCm39)	E205G	probably damaging	Het
Sdk2	G	A	11: 113,784,401 (GRCm39)		probably benign	Het
Serpinb5	A	T	1: 106,803,782 (GRCm39)	Q156L	probably benign	Het
Setdb1	A	T	3: 95,234,778 (GRCm39)	V975D	probably benign	Het
Shc1	A	G	3: 89,335,752 (GRCm39)	*470W	probably null	Het
Sik3	T	A	9: 46,113,320 (GRCm39)	V587E	probably damaging	Het
Sik3	C	A	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Spata7	T	C	12: 98,635,120 (GRCm39)	I384T	probably damaging	Het
Tanc2	T	A	11: 105,812,963 (GRCm39)	V1469D	probably benign	Het
Tasor2	T	C	13: 3,620,409 (GRCm39)	E2164G	probably damaging	Het
Tdrd5	A	T	1: 156,083,372 (GRCm39)	N888K	probably benign	Het
Tex22	T	C	12: 113,039,000 (GRCm39)	S34P	probably benign	Het
Tmed6	T	C	8: 107,790,754 (GRCm39)	T98A	probably benign	Het
Trim66	G	A	7: 109,083,826 (GRCm39)	P141L	probably benign	Het
Trpa1	T	C	1: 14,956,036 (GRCm39)	I778V	probably benign	Het
Urb2	T	A	8: 124,754,816 (GRCm39)	H174Q	probably damaging	Het
Usb1	T	C	8: 96,065,325 (GRCm39)	V59A	probably benign	Het
Vmn1r11	T	A	6: 57,114,394 (GRCm39)	N19K	probably damaging	Het
Vmn1r185	A	T	7: 26,311,219 (GRCm39)	F95L	probably benign	Het
Vmn1r206	C	T	13: 22,805,160 (GRCm39)	V16M	probably benign	Het
Vmn2r92	T	C	17: 18,387,625 (GRCm39)	V210A	probably benign	Het
Wdr17	A	T	8: 55,125,536 (GRCm39)	I448K	possibly damaging	Het
Zfp768	T	A	7: 126,942,733 (GRCm39)	Q465L	probably damaging	Het
Zfp804b	T	A	5: 6,821,105 (GRCm39)	N617Y	probably damaging	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
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'- TGTCCGTGGTTGGAAATCACCTTTG -3'
(R):5'- CCAGGCAATGGGTTCTCAGGAATG -3'

Sequencing Primer
(F):5'- TGGAAATCACCTTTGGTGTTG -3'
(R):5'- GATGTCTGcctaccccatcc -3'

Posted On

2014-04-13