Mutagenetix > Incidental Mutation

Incidental Mutation 'R7957:Park7'

649881

Institutional Source

Beutler Lab

Gene Symbol

Park7

Ensembl Gene

ENSMUSG00000028964

Gene Name

Parkinson disease (autosomal recessive, early onset) 7

Synonyms

DJ-1

MMRRC Submission

046001-MU

Accession Numbers

Essential gene?

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

Stock #

R7957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150981590-150994378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150988341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 85 (S85P)

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

probably damaging
Transcript: ENSMUST00000030805
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000030805
Gene: ENSMUSG00000028964
AA Change: S85P

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 damaging
Transcript: ENSMUST00000105673
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000101298
Gene: ENSMUSG00000028964
AA Change: S85P

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 damaging
Transcript: ENSMUST00000105674
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000101299
Gene: ENSMUSG00000028964
AA Change: S85P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105675
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000101300
Gene: ENSMUSG00000028964
AA Change: S85P

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 damaging
Transcript: ENSMUST00000105676
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000101301
Gene: ENSMUSG00000028964
AA Change: S85P

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 damaging
Transcript: ENSMUST00000128075
AA Change: S85P

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

SMART Domains

Protein: ENSMUSP00000115875
Gene: ENSMUSG00000028964
AA Change: S85P

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

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

0.8522

Coding Region Coverage

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

Validation Efficiency

98% (46/47)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,439 (GRCm39)	M1T	probably null	Het
Abhd2	T	A	7: 78,975,194 (GRCm39)	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,298 (GRCm39)	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,040,131 (GRCm39)	T438A	probably benign	Het
Ccn3	G	T	15: 54,609,734 (GRCm39)	S78I	possibly damaging	Het
Cebpa	A	G	7: 34,819,867 (GRCm39)	I342V	possibly damaging	Het
Chd9	T	C	8: 91,778,326 (GRCm39)	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,661,221 (GRCm39)	P577T	probably benign	Het
Col17a1	T	C	19: 47,649,556 (GRCm39)	D755G	probably damaging	Het
Col5a3	A	G	9: 20,685,347 (GRCm39)	V1443A	unknown	Het
Crygs	C	T	16: 22,624,082 (GRCm39)	R175H	probably damaging	Het
Fam193a	A	G	5: 34,619,430 (GRCm39)	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,399,267 (GRCm39)	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410 (GRCm39)	T149A	probably damaging	Het
Gm3667	T	C	14: 18,269,663 (GRCm39)	N156D	probably benign	Het
Hpcal1	T	A	12: 17,841,171 (GRCm39)	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,394,777 (GRCm39)	E342*	probably null	Het
Ints13	A	G	6: 146,452,264 (GRCm39)	S652P	probably damaging	Het
Kansl2	C	A	15: 98,422,499 (GRCm39)	E356D	probably benign	Het
Klhl6	T	C	16: 19,768,201 (GRCm39)	E448G	probably null	Het
Mmp14	A	G	14: 54,673,707 (GRCm39)	I124V	probably benign	Het
Morc2b	A	T	17: 33,354,747 (GRCm39)	D1008E	probably benign	Het
Muc16	A	C	9: 18,554,767 (GRCm39)	V3842G	unknown	Het
Myo9b	A	T	8: 71,807,405 (GRCm39)	I1614F	probably benign	Het
Nipa1	A	T	7: 55,629,547 (GRCm39)	C189S	probably damaging	Het
Ntn4	T	C	10: 93,480,335 (GRCm39)		probably benign	Het
Or12k5	A	G	2: 36,894,972 (GRCm39)	I218T	probably benign	Het
Or2t29	A	G	11: 58,433,624 (GRCm39)	L239P	probably damaging	Het
Or3a4	A	C	11: 73,944,982 (GRCm39)	L201R	probably damaging	Het
Or4x13	A	T	2: 90,231,395 (GRCm39)	Y130F	probably damaging	Het
Or8g17	T	G	9: 38,930,349 (GRCm39)	I163L	probably benign	Het
Pank1	T	A	19: 34,791,096 (GRCm39)	H528L	probably damaging	Het
Pappa2	A	T	1: 158,589,131 (GRCm39)	L1698*	probably null	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rapgef2	T	C	3: 79,122,276 (GRCm39)	E30G	probably benign	Het
Rhbdf1	A	G	11: 32,160,523 (GRCm39)	F676L	probably damaging	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scd4	G	T	19: 44,329,687 (GRCm39)	M219I	probably benign	Het
Slfn5	T	A	11: 82,847,613 (GRCm39)	I166N	probably benign	Het
Smim22	A	T	16: 4,826,089 (GRCm39)	D85V	probably damaging	Het
Socs2	T	C	10: 95,250,812 (GRCm39)	E7G	probably benign	Het
Thumpd2	T	C	17: 81,334,157 (GRCm39)	E477G	probably benign	Het
Tlr12	C	T	4: 128,510,483 (GRCm39)	G589D	probably benign	Het
Ttn	A	T	2: 76,595,199 (GRCm39)	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,599,690 (GRCm39)		probably null	Het
Ugt2a3	T	A	5: 87,475,050 (GRCm39)	D398V	probably damaging	Het
Vmn2r88	A	T	14: 51,650,589 (GRCm39)	M101L		Het
Vmn2r93	A	T	17: 18,545,954 (GRCm39)	R609*	probably null	Het
Zfp473	C	T	7: 44,381,916 (GRCm39)	E806K	probably damaging	Het
Zfp93	T	C	7: 23,974,999 (GRCm39)	L328P	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
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'- TGACACGAGTTCATGCCACC -3'
(R):5'- TACGTGCCTTGGTGACATTGC -3'

Sequencing Primer
(F):5'- CGAGTTCATGCCACCCAAAC -3'
(R):5'- CACTGTGGTGGGCCTTTCC -3'

Posted On

2020-09-15