Mutagenetix > Incidental Mutation

Incidental Mutation 'R4638:Park7'

350789

Institutional Source

Beutler Lab

Gene Symbol

Park7

Ensembl Gene

ENSMUSG00000028964

Gene Name

Parkinson disease (autosomal recessive, early onset) 7

Synonyms

DJ-1

MMRRC Submission

041900-MU

Accession Numbers

Essential gene?

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

Stock #

R4638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150981590-150994378 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 150991556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 45 (Q45*)

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 null
Transcript: ENSMUST00000030805
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000030805
Gene: ENSMUSG00000028964
AA Change: Q45*

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 null
Transcript: ENSMUST00000105673
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000101298
Gene: ENSMUSG00000028964
AA Change: Q45*

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 null
Transcript: ENSMUST00000105674
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000101299
Gene: ENSMUSG00000028964
AA Change: Q45*

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

Predicted Effect

probably null
Transcript: ENSMUST00000105675
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000101300
Gene: ENSMUSG00000028964
AA Change: Q45*

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 null
Transcript: ENSMUST00000105676
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000101301
Gene: ENSMUSG00000028964
AA Change: Q45*

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 null
Transcript: ENSMUST00000128075
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000115875
Gene: ENSMUSG00000028964
AA Change: Q45*

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 null
Transcript: ENSMUST00000134751
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000122265
Gene: ENSMUSG00000028964
AA Change: Q45*

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

Predicted Effect

probably null
Transcript: ENSMUST00000146184
AA Change: Q45*

SMART Domains

Protein: ENSMUSP00000120832
Gene: ENSMUSG00000028964
AA Change: Q45*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148626

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

91% (40/44)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,369 (GRCm39)	D155G	probably damaging	Het
Ano4	C	T	10: 88,790,559 (GRCm39)	A847T	probably damaging	Het
B4galt7	T	C	13: 55,747,959 (GRCm39)		probably benign	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cebpa	A	G	7: 34,819,687 (GRCm39)	N282D	probably damaging	Het
Cngb1	G	A	8: 95,992,647 (GRCm39)	T196M	probably damaging	Het
Cobll1	T	C	2: 64,929,581 (GRCm39)	M619V	probably benign	Het
Coro7	A	T	16: 4,450,151 (GRCm39)	I566N	probably damaging	Het
Dpyd	A	T	3: 119,059,726 (GRCm39)	S808C	probably benign	Het
Fbn2	A	G	18: 58,143,376 (GRCm39)	V2893A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Krba1	T	A	6: 48,386,685 (GRCm39)	L441*	probably null	Het
Lama5	T	C	2: 179,832,206 (GRCm39)	T1712A	possibly damaging	Het
Lnpep	G	A	17: 17,795,569 (GRCm39)	T314I	probably damaging	Het
Lyst	T	C	13: 13,871,379 (GRCm39)		probably null	Het
Naa16	C	A	14: 79,577,473 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,472,038 (GRCm39)	F34Y	probably benign	Het
Or12e7	T	C	2: 87,288,327 (GRCm39)	S273P	possibly damaging	Het
Or2ag17	A	T	7: 106,390,205 (GRCm39)	M1K	probably null	Het
Pclo	C	A	5: 14,730,447 (GRCm39)	S2983*	probably null	Het
Pth1r	A	G	9: 110,556,141 (GRCm39)	L244P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Slc11a1	G	A	1: 74,414,437 (GRCm39)		probably benign	Het
Slc12a8	T	G	16: 33,410,693 (GRCm39)	S200A	possibly damaging	Het
Slc7a10	A	G	7: 34,897,355 (GRCm39)	E262G	probably damaging	Het
Smg1	T	C	7: 117,795,149 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,255,314 (GRCm39)	L1070P	probably damaging	Het
Sp2	A	G	11: 96,848,300 (GRCm39)	I435T	possibly damaging	Het
Srp72	A	G	5: 77,138,142 (GRCm39)	E309G	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tie1	C	T	4: 118,341,039 (GRCm39)	R314H	probably benign	Het
Tmem198	G	T	1: 75,456,351 (GRCm39)	G2*	probably null	Het
Tmem81	A	G	1: 132,435,943 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,652,821 (GRCm39)	V10938E	possibly damaging	Het
Zfp773	T	A	7: 7,138,335 (GRCm39)	Y100F	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
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
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'- GCCAAGTCCTTCTCCTAAAGG -3'
(R):5'- GTAGTGGCTCAGCTACAAATTAGG -3'

Sequencing Primer
(F):5'- GGAAGTCTGTTCTAACTGCAGTCAC -3'
(R):5'- GCTCAGCTACAAATTAGGGCTGTC -3'

Posted On

2015-10-08