Mutagenetix > Incidental Mutation

Incidental Mutation 'R9124:Pnkd'

693060

Institutional Source

Beutler Lab

Gene Symbol

Pnkd

Ensembl Gene

ENSMUSG00000026179

Gene Name

paroxysmal nonkinesiogenic dyskinesia

Synonyms

2210013N15Rik, 2810403H05Rik, Brp17

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74324089-74392853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74386602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 138 (R138G)

Ref Sequence

ENSEMBL: ENSMUSP00000084478 (fasta)

Gene Model

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

AlphaFold

Q69ZP3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027370
AA Change: R99G

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027370
Gene: ENSMUSG00000026179
AA Change: R99G

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: ENSMUST00000087225
AA Change: R74G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000084477
Gene: ENSMUSG00000026179
AA Change: R74G

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

possibly damaging
Transcript: ENSMUST00000087226
AA Change: R138G

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084478
Gene: ENSMUSG00000026179
AA Change: R138G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (91/91)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	T	15: 60,792,679 (GRCm39)	N89K	possibly damaging	Het
Abca5	A	T	11: 110,189,005 (GRCm39)	D817E	possibly damaging	Het
Abca8b	G	A	11: 109,828,593 (GRCm39)	S1435F	probably damaging	Het
Akap9	T	C	5: 4,111,284 (GRCm39)	L3115P	probably damaging	Het
Arhgap39	G	A	15: 76,619,467 (GRCm39)	R706W	probably damaging	Het
Atp5mk	T	C	19: 47,074,578 (GRCm39)	M28V	probably benign	Het
BC061237	A	T	14: 44,740,851 (GRCm39)	I84F	possibly damaging	Het
Bhlhe22	T	C	3: 18,109,342 (GRCm39)	S131P	probably damaging	Het
Brinp1	C	A	4: 68,747,582 (GRCm39)	D174Y	probably damaging	Het
Bsdc1	A	G	4: 129,359,068 (GRCm39)	T40A	probably benign	Het
Ccdc65	A	T	15: 98,618,863 (GRCm39)	K281*	probably null	Het
Cd22	T	C	7: 30,572,662 (GRCm39)	I316V	probably benign	Het
Cdhr18	A	G	14: 13,864,354 (GRCm38)	F324S		Het
Cfap100	A	C	6: 90,386,330 (GRCm39)	I275S		Het
Chd3	T	G	11: 69,260,162 (GRCm39)	E19A	unknown	Het
Chrnb1	T	C	11: 69,685,057 (GRCm39)	D91G	probably benign	Het
Cr1l	A	G	1: 194,799,925 (GRCm39)	S250P	possibly damaging	Het
Csmd1	A	G	8: 16,034,806 (GRCm39)	V2455A	probably damaging	Het
Dbp	C	T	7: 45,357,818 (GRCm39)	R229C	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah6	C	A	6: 73,098,882 (GRCm39)	V2058F	possibly damaging	Het
Dsp	T	A	13: 38,377,276 (GRCm39)	V1687D	probably benign	Het
Dtd1	T	A	2: 144,445,798 (GRCm39)	M45K	possibly damaging	Het
Fat1	T	A	8: 45,403,363 (GRCm39)	F38Y	probably benign	Het
Fat1	T	A	8: 45,478,064 (GRCm39)	V2370E	possibly damaging	Het
Fgfr1	T	A	8: 26,060,185 (GRCm39)	D438E	probably damaging	Het
Fsip2	A	T	2: 82,816,103 (GRCm39)	K3945N	probably benign	Het
Galc	C	A	12: 98,220,423 (GRCm39)		probably null	Het
Git1	C	A	11: 77,395,498 (GRCm39)	D398E	possibly damaging	Het
Gm4924	A	G	10: 82,214,875 (GRCm39)	Q891R	unknown	Het
Gpc2	T	C	5: 138,274,784 (GRCm39)		probably benign	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Herc2	A	G	7: 55,834,056 (GRCm39)	N3087S	probably damaging	Het
Ifi204	C	T	1: 173,579,193 (GRCm39)		probably null	Het
Imp4	C	T	1: 34,479,128 (GRCm39)	R4W	unknown	Het
Itfg2	A	G	6: 128,401,770 (GRCm39)	S3P	probably damaging	Het
Kcnn3	C	T	3: 89,428,536 (GRCm39)	T254I	possibly damaging	Het
Kics2	C	T	10: 121,586,416 (GRCm39)	Q244*	probably null	Het
Kpna1	A	G	16: 35,853,644 (GRCm39)	I425V	probably benign	Het
Krt23	A	T	11: 99,383,755 (GRCm39)	S46T	probably damaging	Het
Loxl4	C	A	19: 42,596,099 (GRCm39)	W118L	probably damaging	Het
Lrrc37	T	C	11: 103,509,721 (GRCm39)	Y749C	unknown	Het
Lysmd2	T	A	9: 75,533,075 (GRCm39)	L10Q	probably damaging	Het
Mcm5	T	A	8: 75,851,418 (GRCm39)		probably benign	Het
Mctp2	T	A	7: 71,909,178 (GRCm39)	D45V	probably damaging	Het
Mdfic2	T	A	6: 98,318,899 (GRCm39)	N22I	possibly damaging	Het
Mfsd10	T	C	5: 34,791,940 (GRCm39)	T341A	probably benign	Het
Micu1	T	A	10: 59,586,335 (GRCm39)	L170Q	probably damaging	Het
Msantd5	T	C	11: 51,125,481 (GRCm39)	S135P	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Myo15a	A	T	11: 60,369,952 (GRCm39)	Q904L	probably benign	Het
Myo6	G	A	9: 80,195,353 (GRCm39)	D908N	unknown	Het
Nlrp4e	A	T	7: 23,020,403 (GRCm39)	M297L	probably benign	Het
Nptn	A	G	9: 58,558,498 (GRCm39)		probably benign	Het
Oas3	A	C	5: 120,912,170 (GRCm39)	D73E	probably damaging	Het
Or12j5	T	A	7: 140,084,222 (GRCm39)	H50L	probably benign	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or6n1	T	C	1: 173,917,341 (GRCm39)	L245P	probably damaging	Het
Pck1	C	G	2: 172,997,018 (GRCm39)	A220G	probably benign	Het
Pigq	G	A	17: 26,156,233 (GRCm39)	T65I	probably damaging	Het
Pld2	T	C	11: 70,431,696 (GRCm39)	F9L	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Ralgapa1	A	T	12: 55,781,881 (GRCm39)	I781N	probably damaging	Het
Ranbp2	A	G	10: 58,328,719 (GRCm39)	I2873V	probably benign	Het
Rpn2	C	A	2: 157,139,458 (GRCm39)	Q283K	probably benign	Het
Shmt2	A	G	10: 127,355,561 (GRCm39)	S178P	possibly damaging	Het
Shroom3	A	G	5: 93,112,401 (GRCm39)	K1921E	probably benign	Het
Slc20a1	A	G	2: 129,051,142 (GRCm39)	S600G	probably damaging	Het
Slco1a7	A	G	6: 141,668,830 (GRCm39)	V534A	possibly damaging	Het
Slit1	C	T	19: 41,594,951 (GRCm39)	V1140I	probably benign	Het
Sncg	T	C	14: 34,095,640 (GRCm39)	S51G	possibly damaging	Het
Spon2	C	A	5: 33,372,935 (GRCm39)	D256Y	possibly damaging	Het
Srcap	G	T	7: 127,159,874 (GRCm39)	R3250L	unknown	Het
Sun1	T	G	5: 139,231,121 (GRCm39)	Y763*	probably null	Het
Synj1	A	T	16: 90,735,513 (GRCm39)	F1480Y	probably benign	Het
Tbc1d30	T	A	10: 121,132,716 (GRCm39)	N216I	probably damaging	Het
Tent2	A	T	13: 93,284,160 (GRCm39)	L465*	probably null	Het
Tgfb1	A	T	7: 25,388,580 (GRCm39)	K39*	probably null	Het
Tmem87a	A	G	2: 120,224,841 (GRCm39)		probably null	Het
Tmem8b	C	A	4: 43,681,982 (GRCm39)	R452S	probably benign	Het
Tnfsf13b	A	G	8: 10,056,966 (GRCm39)	I42V	probably benign	Het
Trpc2	A	G	7: 101,745,090 (GRCm39)	T769A	possibly damaging	Het
Ttc3	A	G	16: 94,236,389 (GRCm39)	T1033A	probably benign	Het
Ttll13	C	T	7: 79,906,751 (GRCm39)	A473V	probably damaging	Het
U2surp	G	A	9: 95,346,468 (GRCm39)	R908*	probably null	Het
Ube2s	A	G	7: 4,814,510 (GRCm39)	Y17H	probably damaging	Het
Vmn1r94	A	T	7: 19,901,509 (GRCm39)	M265K	probably benign	Het
Vmn2r23	T	C	6: 123,719,038 (GRCm39)	I797T	possibly damaging	Het
Yipf3	A	T	17: 46,559,895 (GRCm39)	E70D	probably benign	Het
Zcchc14	G	A	8: 122,331,969 (GRCm39)	P465S	unknown	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp707	T	C	15: 75,845,468 (GRCm39)	S111P		Het
Zfp738	T	C	13: 67,819,457 (GRCm39)	E178G	possibly damaging	Het
Zfr	A	T	15: 12,136,757 (GRCm39)	N138I	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GTCGATGGCAAAGTGCTTG -3'
(R):5'- ATGGGAAGCACCTTCACTCC -3'

Sequencing Primer
(F):5'- CAAAGTGCTTGCCTAAGGGTGTC -3'
(R):5'- AAGCACCTTCACTCCTGGGAG -3'

Posted On

2022-01-20