Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Pnkd'

219608

Institutional Source

Beutler Lab

Gene Symbol

Pnkd

Ensembl Gene

ENSMUSG00000026179

Gene Name

paroxysmal nonkinesiogenic dyskinesia

Synonyms

2810403H05Rik, Brp17, 2210013N15Rik

MMRRC Submission

039983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74284930-74353694 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 74285910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006462] [ENSMUST00000016309] [ENSMUST00000027370] [ENSMUST00000087226] [ENSMUST00000113796] [ENSMUST00000113805] [ENSMUST00000178235] [ENSMUST00000187046] [ENSMUST00000190008]

AlphaFold

Q69ZP3

Predicted Effect

probably null
Transcript: ENSMUST00000006462

SMART Domains

Protein: ENSMUSP00000006462
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
low complexity region	34	42	N/A	INTRINSIC
low complexity region	46	64	N/A	INTRINSIC
WD40	81	121	2.76e-2	SMART
WD40	124	163	4.83e-7	SMART
WD40	166	203	7.96e0	SMART
WD40	205	244	2.51e-5	SMART
WD40	247	289	2.38e-6	SMART
WD40	292	346	2.47e1	SMART
WD40	349	387	2.61e-3	SMART
WD40	390	429	1.75e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000016309

SMART Domains

Protein: ENSMUSP00000016309
Gene: ENSMUSG00000006301

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC
Pfam:Bax1-I	94	305	1.3e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000027370
AA Change: S46T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: S46T

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 benign
Transcript: ENSMUST00000087226
AA Change: S46T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: S46T

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

probably benign
Transcript: ENSMUST00000113796

SMART Domains

Protein: ENSMUSP00000109427
Gene: ENSMUSG00000006301

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC
Pfam:Bax1-I	94	305	4.6e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113805
AA Change: S46T

PolyPhen 2 Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109436
Gene: ENSMUSG00000026179
AA Change: S46T

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	4	79	4e-28	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000128505

SMART Domains

Protein: ENSMUSP00000122874
Gene: ENSMUSG00000006301

Domain	Start	End	E-Value	Type
Pfam:Bax1-I	1	152	3.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186833

Predicted Effect

probably null
Transcript: ENSMUST00000178235

SMART Domains

Protein: ENSMUSP00000136644
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
low complexity region	33	45	N/A	INTRINSIC
low complexity region	47	65	N/A	INTRINSIC
WD40	82	122	2.76e-2	SMART
WD40	125	164	4.83e-7	SMART
WD40	167	204	7.96e0	SMART
WD40	206	245	2.51e-5	SMART
WD40	248	290	2.38e-6	SMART
WD40	293	347	2.47e1	SMART
WD40	350	388	2.61e-3	SMART
WD40	391	430	1.75e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187046

SMART Domains

Protein: ENSMUSP00000139411
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
WD40	20	60	1.7e-4	SMART
WD40	63	102	3e-9	SMART
WD40	120	160	1.7e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000190008

SMART Domains

Protein: ENSMUSP00000140427
Gene: ENSMUSG00000006299

Domain	Start	End	E-Value	Type
low complexity region	17	34	N/A	INTRINSIC
low complexity region	40	58	N/A	INTRINSIC

Meta Mutation Damage Score

0.0789

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,575 (GRCm38)	H578Q	probably benign	Het
Abcc12	A	G	8: 86,527,281 (GRCm38)	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,673,602 (GRCm38)		probably null	Het
Acap2	A	G	16: 31,133,527 (GRCm38)		probably null	Het
Adgrb1	T	C	15: 74,539,877 (GRCm38)		probably benign	Het
Akap6	T	A	12: 52,938,475 (GRCm38)	V897E	probably damaging	Het
Als2	A	T	1: 59,215,169 (GRCm38)	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,542,593 (GRCm38)	I1275M	probably damaging	Het
Arnt	C	T	3: 95,448,393 (GRCm38)	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,376,993 (GRCm38)		probably benign	Het
Blnk	T	C	19: 40,940,165 (GRCm38)		probably benign	Het
C1qtnf4	T	C	2: 90,889,659 (GRCm38)	M92T	probably damaging	Het
C77080	A	G	4: 129,226,017 (GRCm38)		probably benign	Het
Ccdc177	G	A	12: 80,758,712 (GRCm38)	R263C	unknown	Het
Ccdc83	T	A	7: 90,244,154 (GRCm38)	S132C	probably damaging	Het
Cdc7	A	G	5: 106,973,074 (GRCm38)		probably benign	Het
Cgnl1	T	A	9: 71,725,535 (GRCm38)	N178I	probably benign	Het
Col27a1	C	T	4: 63,273,117 (GRCm38)		probably benign	Het
Col5a1	A	T	2: 27,986,754 (GRCm38)	M822L	unknown	Het
Coro7	T	C	16: 4,633,756 (GRCm38)	I451V	probably benign	Het
Csmd3	T	C	15: 48,673,531 (GRCm38)	T92A	probably damaging	Het
Ddc	A	G	11: 11,815,292 (GRCm38)	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,600,013 (GRCm38)	V608I	probably damaging	Het
Ddx60	A	T	8: 61,972,206 (GRCm38)	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,148,989 (GRCm38)	E48G	probably benign	Het
Dpf3	T	A	12: 83,325,035 (GRCm38)		probably null	Het
Dydc2	A	G	14: 41,061,903 (GRCm38)	C88R	probably benign	Het
Elovl4	A	G	9: 83,780,719 (GRCm38)	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,882,982 (GRCm38)	D296G	probably damaging	Het
Fam83h	G	T	15: 76,006,570 (GRCm38)		probably benign	Het
Fbf1	T	A	11: 116,151,491 (GRCm38)	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,454,851 (GRCm38)	L323Q	probably damaging	Het
Fmnl2	T	A	2: 53,105,576 (GRCm38)	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,197,262 (GRCm38)	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871 (GRCm38)	R378Q	unknown	Het
Garem2	G	T	5: 30,117,174 (GRCm38)	G844*	probably null	Het
Glmp	T	C	3: 88,327,870 (GRCm38)	L269S	probably damaging	Het
Gm2000	T	G	1: 156,366,447 (GRCm38)	*124G	probably null	Het
Gm9915	T	C	1: 42,230,721 (GRCm38)		noncoding transcript	Het
Gnb4	A	T	3: 32,598,141 (GRCm38)	D27E	probably damaging	Het
Gnb5	A	G	9: 75,344,650 (GRCm38)		probably null	Het
Gpr161	T	G	1: 165,306,358 (GRCm38)	V63G	probably damaging	Het
Gsk3a	T	A	7: 25,229,721 (GRCm38)		probably benign	Het
Hapln2	T	C	3: 88,024,120 (GRCm38)		probably null	Het
Incenp	G	T	19: 9,885,487 (GRCm38)	T401N	unknown	Het
Kalrn	A	G	16: 33,977,524 (GRCm38)		probably null	Het
Kcnq3	A	G	15: 66,028,623 (GRCm38)		probably null	Het
Kif21b	T	C	1: 136,171,156 (GRCm38)	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,833,686 (GRCm38)	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,959,572 (GRCm38)	A291T	probably damaging	Het
Lcp1	T	C	14: 75,200,506 (GRCm38)	S119P	probably damaging	Het
Ldhc	A	G	7: 46,869,751 (GRCm38)	I133V	probably benign	Het
Lmntd2	G	A	7: 141,212,059 (GRCm38)		probably benign	Het
Lpl	A	T	8: 68,896,802 (GRCm38)	K327*	probably null	Het
Lrp1b	T	C	2: 40,875,069 (GRCm38)	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,229,772 (GRCm38)	A131S	probably benign	Het
Msh3	T	A	13: 92,249,820 (GRCm38)		probably benign	Het
Msh5	A	G	17: 35,033,600 (GRCm38)	I377T	probably damaging	Het
Myo1e	T	C	9: 70,368,773 (GRCm38)	F757L	probably benign	Het
Myof	A	T	19: 37,945,634 (GRCm38)	D955E	probably damaging	Het
Nckap1	C	T	2: 80,517,942 (GRCm38)	S889N	probably benign	Het
Ncor2	T	C	5: 125,038,918 (GRCm38)	D858G	probably damaging	Het
Neb	A	T	2: 52,263,905 (GRCm38)	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,086,672 (GRCm38)	T453R	probably benign	Het
Nf1	A	G	11: 79,553,961 (GRCm38)	N371D	probably benign	Het
Nlrp4f	T	C	13: 65,194,091 (GRCm38)	Y580C	probably damaging	Het
Nme8	A	C	13: 19,652,322 (GRCm38)	L228R	probably damaging	Het
Numa1	C	T	7: 102,009,322 (GRCm38)	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214 (GRCm38)	Y205C	probably benign	Het
Olfr1047	T	A	2: 86,228,252 (GRCm38)	T240S	probably damaging	Het
Olfr1283	C	T	2: 111,369,076 (GRCm38)	S148L	probably benign	Het
Olfr1532-ps1	G	A	7: 106,914,246 (GRCm38)	G16D	probably damaging	Het
Olfr693	T	A	7: 106,677,670 (GRCm38)	N272I	probably damaging	Het
Olfr972	T	A	9: 39,873,938 (GRCm38)	I221N	probably damaging	Het
Pclo	A	G	5: 14,713,473 (GRCm38)	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,066,494 (GRCm38)		probably benign	Het
Pdxk	G	A	10: 78,441,154 (GRCm38)	T270I	probably damaging	Het
Pex5	T	C	6: 124,414,405 (GRCm38)	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,900,386 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,381,523 (GRCm38)	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,941,126 (GRCm38)	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,962,517 (GRCm38)	T1449A	probably damaging	Het
Pom121l2	A	G	13: 21,983,472 (GRCm38)	I638V	probably damaging	Het
Prag1	A	G	8: 36,129,160 (GRCm38)		probably null	Het
Ranbp10	A	G	8: 105,786,708 (GRCm38)	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,733,711 (GRCm38)	L824P	probably damaging	Het
Rec8	T	C	14: 55,624,142 (GRCm38)	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,797,241 (GRCm38)	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,615,670 (GRCm38)	T373K	probably benign	Het
Rrn3	T	C	16: 13,789,074 (GRCm38)	S151P	probably damaging	Het
Scn7a	A	G	2: 66,684,289 (GRCm38)	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,515,380 (GRCm38)	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,747,510 (GRCm38)	D706G	probably damaging	Het
Serpina5	A	T	12: 104,103,857 (GRCm38)	T338S	probably benign	Het
Sez6	G	A	11: 77,954,068 (GRCm38)		probably null	Het
Shisa4	C	T	1: 135,372,274 (GRCm38)	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,968,585 (GRCm38)	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,646,173 (GRCm38)	L51V	probably benign	Het
Slit3	A	G	11: 35,630,841 (GRCm38)		probably null	Het
Spata13	G	T	14: 60,691,463 (GRCm38)	G157W	probably damaging	Het
Spta1	T	C	1: 174,240,367 (GRCm38)	V2120A	possibly damaging	Het
Srpr	T	C	9: 35,213,538 (GRCm38)		probably null	Het
Syt6	A	G	3: 103,587,420 (GRCm38)	I234V	probably benign	Het
Thada	G	T	17: 84,310,042 (GRCm38)	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,176,909 (GRCm38)	R58W	probably damaging	Het
Top3b	A	G	16: 16,883,519 (GRCm38)	I232V	probably damaging	Het
Tspan1	T	A	4: 116,163,629 (GRCm38)	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,235,635 (GRCm38)	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,073,077 (GRCm38)	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,151,781 (GRCm38)	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,328,942 (GRCm38)	S415P	probably damaging	Het
Vcan	A	T	13: 89,689,038 (GRCm38)	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,136,206 (GRCm38)	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,834,948 (GRCm38)	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,454,039 (GRCm38)	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 85,151,805 (GRCm38)	Y308N	probably benign	Het
Vmn2r75	A	T	7: 86,148,262 (GRCm38)	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,780,171 (GRCm38)	I500F	probably damaging	Het
Zfp609	A	G	9: 65,795,277 (GRCm38)	V31A	probably damaging	Het
Zfp689	G	T	7: 127,444,787 (GRCm38)	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,335,501 (GRCm38)	L113H	probably benign	Het

Other mutations in Pnkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Pnkd	APN	1	74,285,922 (GRCm38)	missense	probably damaging	1.00
IGL01322:Pnkd	APN	1	74,351,557 (GRCm38)	missense	probably damaging	1.00
IGL02536:Pnkd	APN	1	74,351,900 (GRCm38)	missense	probably damaging	1.00
IGL02712:Pnkd	APN	1	74,349,868 (GRCm38)	missense	possibly damaging	0.62
R0731:Pnkd	UTSW	1	74,351,541 (GRCm38)	missense	probably damaging	1.00
R0741:Pnkd	UTSW	1	74,351,859 (GRCm38)	missense	possibly damaging	0.56
R1483:Pnkd	UTSW	1	74,349,391 (GRCm38)	missense	probably benign	0.08
R1497:Pnkd	UTSW	1	74,351,522 (GRCm38)	splice site	probably null
R1515:Pnkd	UTSW	1	74,349,809 (GRCm38)	missense	probably null	1.00
R1759:Pnkd	UTSW	1	74,348,763 (GRCm38)	missense	probably damaging	0.98
R1969:Pnkd	UTSW	1	74,351,849 (GRCm38)	missense	probably damaging	0.97
R3508:Pnkd	UTSW	1	74,350,634 (GRCm38)	missense	probably benign	0.01
R4714:Pnkd	UTSW	1	74,351,782 (GRCm38)	missense	probably damaging	1.00
R4811:Pnkd	UTSW	1	74,349,405 (GRCm38)	splice site	probably null
R5437:Pnkd	UTSW	1	74,349,737 (GRCm38)	missense	possibly damaging	0.61
R5931:Pnkd	UTSW	1	74,350,674 (GRCm38)	missense	probably benign
R6698:Pnkd	UTSW	1	74,350,677 (GRCm38)	missense	probably damaging	1.00
R6994:Pnkd	UTSW	1	74,293,176 (GRCm38)	splice site	probably null
R9124:Pnkd	UTSW	1	74,347,443 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CGCAGTGACGTTTAAGTAGCC -3'
(R):5'- CCCGCATTTCAGAGAAGTTTCTAG -3'

Sequencing Primer
(F):5'- TTCCAAAGGTGTCACCCGATG -3'
(R):5'- GAGAAGTTTCTAGGTCCCCAC -3'

Posted On

2014-08-25