Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00472:Pnkd'

13071

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 #

IGL00472

Quality Score

Status

Chromosome

Chromosomal Location

74324089-74392853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74325081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 50 (K50E)

Ref Sequence

ENSEMBL: ENSMUSP00000109436 (fasta)

Gene Model

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

AlphaFold

Q69ZP3

Predicted Effect

probably benign
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

possibly damaging
Transcript: ENSMUST00000027370
AA Change: K50E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: K50E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087226
AA Change: K50E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: K50E

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

probably damaging
Transcript: ENSMUST00000113805
AA Change: K50E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109436
Gene: ENSMUSG00000026179
AA Change: K50E

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: ENSMUST00000187908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192088

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138620

Predicted Effect

probably benign
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

Predicted Effect

probably benign
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 benign
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

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	A	G	3: 37,490,793 (GRCm39)	H446R	probably benign	Het
Alpk3	C	T	7: 80,745,401 (GRCm39)		probably benign	Het
Atp8b1	T	A	18: 64,697,501 (GRCm39)	I448F	probably benign	Het
C2cd2l	A	G	9: 44,228,400 (GRCm39)	L156P	probably damaging	Het
Cbll1	G	A	12: 31,537,832 (GRCm39)	P308S	probably damaging	Het
Ccl3	C	T	11: 83,539,467 (GRCm39)	S39N	possibly damaging	Het
Cnih4	G	T	1: 180,989,659 (GRCm39)	G30C	probably damaging	Het
Endod1	A	T	9: 14,268,049 (GRCm39)	F479I	possibly damaging	Het
Gm572	T	G	4: 148,751,849 (GRCm39)	V238G	possibly damaging	Het
Grhl1	G	T	12: 24,662,169 (GRCm39)	R536L	probably damaging	Het
Itgae	A	G	11: 73,004,520 (GRCm39)	K269R	probably benign	Het
Nin	C	A	12: 70,076,862 (GRCm39)	M1064I	probably damaging	Het
Rpl39l	A	G	16: 9,992,258 (GRCm39)	M29V	probably benign	Het
Strip2	C	T	6: 29,931,213 (GRCm39)	A388V	probably benign	Het
Tex21	A	T	12: 76,253,571 (GRCm39)	N447K	probably damaging	Het
Zfp760	A	G	17: 21,942,457 (GRCm39)	Y544C	possibly damaging	Het

Other mutations in Pnkd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06