Mutagenetix > Incidental Mutation

Incidental Mutation 'R8155:Park7'

633248

Institutional Source

Beutler Lab

Gene Symbol

Park7

Ensembl Gene

ENSMUSG00000028964

Gene Name

Parkinson disease (autosomal recessive, early onset) 7

Synonyms

DJ-1

MMRRC Submission

067581-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.449) question?

Stock #

R8155 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150981590-150994378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150991547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 48 (R48C)

Ref Sequence

ENSEMBL: ENSMUSP00000030805 (fasta)

Gene Model

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

AlphaFold

Q99LX0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030805
AA Change: R48C

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030805
Gene: ENSMUSG00000028964
AA Change: R48C

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

possibly damaging
Transcript: ENSMUST00000105673
AA Change: R48C

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101298
Gene: ENSMUSG00000028964
AA Change: R48C

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

possibly damaging
Transcript: ENSMUST00000105674
AA Change: R48C

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101299
Gene: ENSMUSG00000028964
AA Change: R48C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105675
AA Change: R48C

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101300
Gene: ENSMUSG00000028964
AA Change: R48C

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

possibly damaging
Transcript: ENSMUST00000105676
AA Change: R48C

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101301
Gene: ENSMUSG00000028964
AA Change: R48C

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

possibly damaging
Transcript: ENSMUST00000128075
AA Change: R48C

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115875
Gene: ENSMUSG00000028964
AA Change: R48C

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

possibly damaging
Transcript: ENSMUST00000134751
AA Change: R48C

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122265
Gene: ENSMUSG00000028964
AA Change: R48C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146184
AA Change: R48C

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120832
Gene: ENSMUSG00000028964
AA Change: R48C

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

Meta Mutation Damage Score

0.7136

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,330,497 (GRCm39)	T1386I	probably damaging	Het
Abcb6	A	T	1: 75,151,413 (GRCm39)	V504E	probably damaging	Het
Abtb3	G	A	10: 85,476,473 (GRCm39)		probably null	Het
Adprhl1	C	T	8: 13,271,764 (GRCm39)	A1665T	probably damaging	Het
Arhgap32	T	A	9: 32,093,196 (GRCm39)	L183H	probably damaging	Het
Arhgef12	A	G	9: 42,953,958 (GRCm39)	L24S	probably damaging	Het
B3gnt4	C	T	5: 123,649,426 (GRCm39)	H264Y	possibly damaging	Het
Cfi	A	G	3: 129,648,739 (GRCm39)	T208A	probably benign	Het
Chd4	T	A	6: 125,082,287 (GRCm39)	F605Y	probably benign	Het
Cimap1d	A	T	10: 79,481,466 (GRCm39)	V21E	probably benign	Het
Clip1	A	G	5: 123,751,699 (GRCm39)	L694P		Het
Crybb3	A	T	5: 113,225,466 (GRCm39)	D135E	probably damaging	Het
Ddx60	T	A	8: 62,470,205 (GRCm39)	S1398T	possibly damaging	Het
Dusp5	T	A	19: 53,529,537 (GRCm39)	Y313*	probably null	Het
Eloa	A	G	4: 135,734,438 (GRCm39)	V689A	probably benign	Het
Ep300	T	A	15: 81,505,269 (GRCm39)	Y630N	unknown	Het
Galnt5	A	T	2: 57,889,427 (GRCm39)	K342N	probably benign	Het
Gm4841	A	G	18: 60,403,409 (GRCm39)	V228A	probably damaging	Het
Gna14	A	T	19: 16,576,338 (GRCm39)	D115V	probably benign	Het
Gpx5	T	C	13: 21,472,917 (GRCm39)	D139G	probably damaging	Het
Hmcn1	G	T	1: 150,480,705 (GRCm39)	N4490K	probably damaging	Het
Hsp90aa1	T	C	12: 110,661,828 (GRCm39)	S63G	unknown	Het
Itpkb	T	C	1: 180,159,913 (GRCm39)	I13T	possibly damaging	Het
Itprid2	T	C	2: 79,475,177 (GRCm39)	S379P	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldha	A	G	7: 46,503,508 (GRCm39)	H300R	probably damaging	Het
Lrp2	A	G	2: 69,313,342 (GRCm39)	L2463P	possibly damaging	Het
Morf4l1	A	G	9: 89,977,225 (GRCm39)	I232T	probably damaging	Het
Mtg1	A	G	7: 139,724,622 (GRCm39)	H166R	probably benign	Het
Or14a260	A	G	7: 85,985,386 (GRCm39)	S73P	probably damaging	Het
Or2ad1	A	G	13: 21,327,062 (GRCm39)	L55P	probably damaging	Het
Or52r1	C	T	7: 102,536,452 (GRCm39)	D303N	probably benign	Het
Or5d46	A	G	2: 88,170,296 (GRCm39)	N129S	probably damaging	Het
Or6d12	T	A	6: 116,492,813 (GRCm39)	V25E	probably benign	Het
Or7g32	A	T	9: 19,389,453 (GRCm39)	V31D	probably benign	Het
Papss2	A	G	19: 32,618,742 (GRCm39)	T267A	probably benign	Het
Pecr	A	G	1: 72,309,443 (GRCm39)	V199A	probably damaging	Het
Pla2g10	G	A	16: 13,543,048 (GRCm39)	R80W	probably damaging	Het
Plek2	G	A	12: 78,943,066 (GRCm39)	R77*	probably null	Het
Psg23	A	G	7: 18,346,179 (GRCm39)	L172P	probably damaging	Het
Psg25	A	C	7: 18,260,445 (GRCm39)	F151C	probably benign	Het
Ptpn3	G	T	4: 57,232,336 (GRCm39)	H433Q	probably benign	Het
Rasal3	A	G	17: 32,616,381 (GRCm39)	V294A	possibly damaging	Het
Rnf6	T	C	5: 146,147,815 (GRCm39)	D401G	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sema3d	T	C	5: 12,498,148 (GRCm39)		probably null	Het
Serpinb1c	A	T	13: 33,081,038 (GRCm39)	L15Q	probably damaging	Het
Slfn3	T	A	11: 83,103,611 (GRCm39)	Y161N	probably damaging	Het
Spns2	T	C	11: 72,347,394 (GRCm39)	M404V	possibly damaging	Het
Stk39	T	A	2: 68,097,410 (GRCm39)	I479L	probably damaging	Het
Tbx15	C	A	3: 99,259,886 (GRCm39)	Q586K	possibly damaging	Het
Thap11	C	T	8: 106,582,854 (GRCm39)	R288*	probably null	Het
Tm7sf2	T	A	19: 6,114,125 (GRCm39)	D236V	probably damaging	Het
Tmem214	T	C	5: 31,029,136 (GRCm39)	S192P	possibly damaging	Het
Tnfaip3	A	G	10: 18,880,439 (GRCm39)	S543P	possibly damaging	Het
Traf3ip3	A	G	1: 192,860,524 (GRCm39)	L466P	probably damaging	Het
Tspan18	C	T	2: 93,040,357 (GRCm39)		probably null	Het
Vmn1r229	T	A	17: 21,035,472 (GRCm39)	L239Q	probably damaging	Het
Vsig2	T	C	9: 37,455,329 (GRCm39)	V293A	possibly damaging	Het
Wdfy4	A	T	14: 32,884,776 (GRCm39)	V42D		Het
Wnk2	G	A	13: 49,192,577 (GRCm39)	P2055S	unknown	Het
Zfp953	C	A	13: 67,491,535 (GRCm39)	C139F	probably damaging	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
R5345:Park7	UTSW	4	150,992,880 (GRCm39)	splice site	probably benign
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
R9337:Park7	UTSW	4	150,991,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGACACAGGATCCAGACC -3'
(R):5'- TCAGCTACAAATTAGGGCTGTC -3'

Sequencing Primer
(F):5'- GGATCCAGACCCTCCACC -3'
(R):5'- CCAGAAGAGACCAGGTGTTATTTACC -3'

Posted On

2020-06-30