Mutagenetix > Incidental Mutation

Incidental Mutation 'R5345:Park7'

500956

Institutional Source

Beutler Lab

Gene Symbol

Park7

Ensembl Gene

ENSMUSG00000028964

Gene Name

Parkinson disease (autosomal recessive, early onset) 7

Synonyms

DJ-1

MMRRC Submission

042924-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R5345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150981590-150994378 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 150992880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030805] [ENSMUST00000105673] [ENSMUST00000105674] [ENSMUST00000105675] [ENSMUST00000105676] [ENSMUST00000128075] [ENSMUST00000134751] [ENSMUST00000146184]

AlphaFold

Q99LX0

Predicted Effect

probably benign
Transcript: ENSMUST00000030805

SMART Domains

Protein: ENSMUSP00000030805
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DUF4066	9	170	1.4e-17	PFAM
Pfam:DJ-1_PfpI	32	173	8.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105673

SMART Domains

Protein: ENSMUSP00000101298
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DUF4066	9	170	1.4e-17	PFAM
Pfam:DJ-1_PfpI	32	173	8.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105674

SMART Domains

Protein: ENSMUSP00000101299
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DJ-1_PfpI	4	171	1.2e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105675

SMART Domains

Protein: ENSMUSP00000101300
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DUF4066	9	170	1.4e-17	PFAM
Pfam:DJ-1_PfpI	32	173	8.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105676

SMART Domains

Protein: ENSMUSP00000101301
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DUF4066	9	170	1.7e-16	PFAM
Pfam:DJ-1_PfpI	32	171	3.6e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128075

SMART Domains

Protein: ENSMUSP00000115875
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DUF4066	9	135	1.1e-15	PFAM
Pfam:DJ-1_PfpI	32	136	1.2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134751

SMART Domains

Protein: ENSMUSP00000122265
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DJ-1_PfpI	32	114	6.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148626

Predicted Effect

probably benign
Transcript: ENSMUST00000146184

SMART Domains

Protein: ENSMUSP00000120832
Gene: ENSMUSG00000028964

Domain	Start	End	E-Value	Type
Pfam:DJ-1_PfpI	32	84	4e-10	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced evoked dopamine overflow in the striatum, resulting primarily from increased dopamine uptake. Mice show hyopactivity, absent long-term depression in medium spiny neurons and decreased sensitivity of nigral neurons to dopamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	A	2: 31,687,059 (GRCm39)	S519T	probably damaging	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acot1	T	A	12: 84,063,942 (GRCm39)	I350N	probably damaging	Het
Adam8	A	G	7: 139,567,552 (GRCm39)	V397A	probably benign	Het
Ankar	A	G	1: 72,709,310 (GRCm39)	M735T	possibly damaging	Het
Cacna1c	A	G	6: 118,633,497 (GRCm39)		probably null	Het
Cdc25b	A	G	2: 131,034,516 (GRCm39)	S222G	probably benign	Het
Celsr3	T	C	9: 108,709,323 (GRCm39)	S1390P	probably damaging	Het
Clca4a	T	G	3: 144,676,222 (GRCm39)	D104A	probably damaging	Het
Clcn6	A	T	4: 148,123,206 (GRCm39)		probably benign	Het
Coq8b	A	G	7: 26,949,773 (GRCm39)	T320A	probably benign	Het
Cspg5	A	T	9: 110,075,698 (GRCm39)	M145L	probably benign	Het
Cyp2c67	T	A	19: 39,614,676 (GRCm39)	I284F	probably benign	Het
Eya4	T	C	10: 22,985,947 (GRCm39)	I565V	probably benign	Het
Fbxw11	A	G	11: 32,688,471 (GRCm39)	N410S	probably damaging	Het
Gabrb2	C	T	11: 42,517,636 (GRCm39)	A448V	possibly damaging	Het
Hectd4	A	G	5: 121,402,037 (GRCm39)	D375G	possibly damaging	Het
Itsn2	T	C	12: 4,722,783 (GRCm39)	V1073A	probably damaging	Het
Kif5c	A	G	2: 49,613,078 (GRCm39)	T139A	probably benign	Het
L1td1	G	A	4: 98,624,684 (GRCm39)	G293D	probably damaging	Het
Lama1	A	G	17: 68,124,558 (GRCm39)	M2873V	probably benign	Het
Msantd5f6	A	T	4: 73,319,514 (GRCm39)	W77R	probably damaging	Het
Myo15a	A	G	11: 60,388,364 (GRCm39)	R1960G	probably damaging	Het
Nbeal1	T	C	1: 60,367,369 (GRCm39)		probably null	Het
Ndufb4	A	G	16: 37,474,540 (GRCm39)		probably null	Het
Nup153	A	T	13: 46,840,341 (GRCm39)	L1089*	probably null	Het
Or10g3	G	A	14: 52,609,725 (GRCm39)	R262*	probably null	Het
Or2l13b	T	A	16: 19,349,527 (GRCm39)	I48F	probably damaging	Het
Or5aq1b	A	G	2: 86,901,836 (GRCm39)	V214A	possibly damaging	Het
P2rx1	A	G	11: 72,900,056 (GRCm39)	T158A	probably damaging	Het
Parl	A	T	16: 20,116,892 (GRCm39)	F102I	probably damaging	Het
Plxnc1	T	A	10: 94,685,831 (GRCm39)	H720L	probably benign	Het
Ptpn4	A	G	1: 119,693,207 (GRCm39)	S140P	probably benign	Het
Rel	A	G	11: 23,692,462 (GRCm39)	S524P	probably benign	Het
Ripply2	A	G	9: 86,901,779 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,312,234 (GRCm39)	T158M	probably benign	Het
Rps4l-ps	T	C	7: 114,526,433 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	C	10: 43,808,466 (GRCm39)	L81P	probably damaging	Het
Sap130	T	C	18: 31,781,251 (GRCm39)	L138P	probably benign	Het
Scp2	A	T	4: 107,912,776 (GRCm39)		probably null	Het
Sec24c	T	A	14: 20,743,288 (GRCm39)	M970K	probably benign	Het
Setd5	C	T	6: 113,092,968 (GRCm39)	P340L	probably damaging	Het
Sgcg	A	T	14: 61,483,218 (GRCm39)	M61K	probably damaging	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Slc34a1	A	G	13: 55,548,331 (GRCm39)	R21G	probably benign	Het
Slc7a14	A	C	3: 31,278,006 (GRCm39)	L533W	probably damaging	Het
Srsf9	A	G	5: 115,468,595 (GRCm39)	D77G	probably benign	Het
Tab1	A	T	15: 80,034,014 (GRCm39)	E119V	possibly damaging	Het
Tcstv5	A	T	13: 120,411,384 (GRCm39)	V74E	probably damaging	Het
Tnrc6c	C	T	11: 117,614,113 (GRCm39)	A757V	possibly damaging	Het
Tradd	A	T	8: 105,986,556 (GRCm39)	I72N	probably damaging	Het
Trbv12-1	C	T	6: 41,090,781 (GRCm39)	T51M	probably benign	Het
Tsga10	T	C	1: 37,802,392 (GRCm39)	K605E	probably damaging	Het
Vwc2l	A	G	1: 70,768,077 (GRCm39)	D47G	probably damaging	Het
Zfp647	T	A	15: 76,795,695 (GRCm39)	T322S	possibly damaging	Het
Zscan20	A	C	4: 128,481,914 (GRCm39)	S583A	probably benign	Het

Other mutations in Park7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Park7	APN	4	150,988,288 (GRCm39)	missense	probably benign	0.28
stiffed	UTSW	4	150,991,547 (GRCm39)	missense	possibly damaging	0.82
usurped	UTSW	4	150,988,341 (GRCm39)	missense	probably damaging	1.00
R0268:Park7	UTSW	4	150,992,806 (GRCm39)	missense	possibly damaging	0.94
R0344:Park7	UTSW	4	150,992,806 (GRCm39)	missense	possibly damaging	0.94
R2062:Park7	UTSW	4	150,989,732 (GRCm39)	missense	probably benign	0.05
R2416:Park7	UTSW	4	150,992,858 (GRCm39)	missense	probably benign	0.01
R3032:Park7	UTSW	4	150,985,509 (GRCm39)	missense	probably benign	0.00
R4638:Park7	UTSW	4	150,991,556 (GRCm39)	nonsense	probably null
R6585:Park7	UTSW	4	150,989,721 (GRCm39)	missense	probably benign	0.01
R7957:Park7	UTSW	4	150,988,341 (GRCm39)	missense	probably damaging	1.00
R8155:Park7	UTSW	4	150,991,547 (GRCm39)	missense	possibly damaging	0.82
R9337:Park7	UTSW	4	150,991,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCACATAAACACAGAGTGGG -3'
(R):5'- TCATCCCGGGATTAGAGTGC -3'

Sequencing Primer
(F):5'- ACATCTGCACCACGGGATG -3'
(R):5'- AGTGCTGAAACTCTGCCATG -3'

Posted On

2017-12-01