Mutagenetix > Incidental Mutation

Incidental Mutation 'R9607:Prkn'

723964

Institutional Source

Beutler Lab

Gene Symbol

Prkn

Ensembl Gene

ENSMUSG00000023826

Gene Name

parkin RBR E3 ubiquitin protein ligase

Synonyms

PRKN, Parkin, Park2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R9607 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11059271-12282248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12222963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 371 (Y371C)

Ref Sequence

ENSEMBL: ENSMUSP00000140587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000191124]

AlphaFold

Q9WVS6

PDB Structure

NMR structure of ubiquitin-like domain in murine Parkin [SOLUTION NMR]
Crystal structure of ubiquitin-like domain of murine Parkin [X-RAY DIFFRACTION]
Crystal Structure of parkin ubiquitin-like domain R33Q mutant [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000191124
AA Change: Y371C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: Y371C

Domain	Start	End	E-Value	Type
UBQ	1	72	3.58e-15	SMART
Blast:UBQ	203	230	2e-6	BLAST
Blast:RING	237	295	7e-11	BLAST
IBR	312	376	1.2e-14	SMART
IBR	400	456	5.16e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
PHENOTYPE: Dopamine and glutatamate transmission are impaired in some targeted null mice, resulting in decreased exploratory behavior. These mice show decreased body weight and temperature. Park2 is inactivated as part of a large deletion in the quaking mouse, a dysmyelinating mutant with a pronounced tremor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,914,068 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,817,250 (GRCm39)	Y927C		Het
Bckdhb	A	G	9: 83,871,344 (GRCm39)	I208V	probably benign	Het
Cacna1g	T	C	11: 94,356,714 (GRCm39)	I141V	probably benign	Het
Celsr1	A	G	15: 85,915,229 (GRCm39)	S915P		Het
Celsr3	G	A	9: 108,717,701 (GRCm39)		probably null	Het
Cep295	A	T	9: 15,234,009 (GRCm39)	D2262E	probably damaging	Het
Chil3	T	C	3: 106,067,685 (GRCm39)	K160R	probably null	Het
Cmtr1	G	T	17: 29,893,196 (GRCm39)	A72S	probably benign	Het
Cpa5	T	C	6: 30,626,338 (GRCm39)	F233S	probably damaging	Het
Creb3l3	G	A	10: 80,920,735 (GRCm39)	R432W	probably damaging	Het
Csdc2	A	G	15: 81,831,088 (GRCm39)	D45G	possibly damaging	Het
Csmd3	G	T	15: 47,618,811 (GRCm39)	T1859K	probably damaging	Het
Cxxc1	T	C	18: 74,353,479 (GRCm39)		probably null	Het
Dcc	A	G	18: 71,721,072 (GRCm39)	S430P	probably damaging	Het
Dera	T	G	6: 137,833,732 (GRCm39)	S270A	unknown	Het
Dnaaf1	A	G	8: 120,309,350 (GRCm39)	E146G	possibly damaging	Het
Dsg4	A	T	18: 20,586,047 (GRCm39)	T246S	probably benign	Het
Eif4g3	A	G	4: 137,893,045 (GRCm39)	E766G	probably benign	Het
Ep400	A	C	5: 110,831,805 (GRCm39)	C2146G	unknown	Het
Epas1	A	T	17: 87,134,038 (GRCm39)	T516S	probably benign	Het
Espn	A	G	4: 152,219,939 (GRCm39)	S395P	probably benign	Het
Fam124b	T	A	1: 80,190,813 (GRCm39)	Q190L	probably damaging	Het
Filip1	T	A	9: 79,726,402 (GRCm39)	D739V	probably damaging	Het
Flg2	A	G	3: 93,108,719 (GRCm39)	Y249C	probably damaging	Het
Gon4l	T	A	3: 88,765,751 (GRCm39)	S391T	probably damaging	Het
Hoxa5	G	T	6: 52,181,196 (GRCm39)	Y45*	probably null	Het
Ift172	A	G	5: 31,410,913 (GRCm39)	F1715S		Het
Klhdc9	T	A	1: 171,187,124 (GRCm39)	H262L	probably damaging	Het
Krt16	C	A	11: 100,138,453 (GRCm39)	D232Y	probably damaging	Het
Lrrd1	A	G	5: 3,901,561 (GRCm39)	E622G	probably damaging	Het
Mars1	A	T	10: 127,144,493 (GRCm39)	C182*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Msrb2	C	A	2: 19,399,130 (GRCm39)	N164K	probably damaging	Het
Mtcl2	T	G	2: 156,869,488 (GRCm39)	E1049A	probably damaging	Het
Muc2	T	A	7: 141,305,190 (GRCm39)	C604S		Het
Mup17	T	C	4: 61,511,903 (GRCm39)	I124V	probably benign	Het
Myo18b	T	C	5: 113,022,544 (GRCm39)	M283V	unknown	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nepro	T	C	16: 44,551,832 (GRCm39)	L230P	probably damaging	Het
Nes	A	G	3: 87,883,513 (GRCm39)	N591D	probably benign	Het
Nfrkb	T	C	9: 31,326,066 (GRCm39)	S1170P	possibly damaging	Het
Nphs1	A	T	7: 30,163,012 (GRCm39)	T430S	probably damaging	Het
Nrp1	T	C	8: 129,152,262 (GRCm39)	V157A	probably benign	Het
Nup188	T	A	2: 30,197,724 (GRCm39)	D259E	probably benign	Het
Or52n5	T	C	7: 104,588,207 (GRCm39)	M158T	probably benign	Het
Or5b109	A	T	19: 13,211,953 (GRCm39)	N113I		Het
Or8b1c	A	G	9: 38,384,913 (GRCm39)	Y290C	probably damaging	Het
Or9s18	G	T	13: 65,300,885 (GRCm39)	M282I	probably benign	Het
Pcdha8	T	A	18: 37,126,217 (GRCm39)	L233Q	probably damaging	Het
Pcdhga12	T	A	18: 37,901,389 (GRCm39)	F740L	probably damaging	Het
Pglyrp4	G	A	3: 90,638,151 (GRCm39)	G155D	probably damaging	Het
Piezo2	G	A	18: 63,519,347 (GRCm39)		probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Ppil1	A	T	17: 29,470,481 (GRCm39)	*167K	probably null	Het
Prdm10	G	T	9: 31,260,486 (GRCm39)	D647Y	probably damaging	Het
Prrc2b	T	A	2: 32,098,794 (GRCm39)	I702N	probably damaging	Het
Rnf26rt	A	T	6: 76,473,923 (GRCm39)	L231*	probably null	Het
Rtp4	T	A	16: 23,339,226 (GRCm39)		probably null	Het
Sema6c	A	G	3: 95,076,545 (GRCm39)	H277R	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc41a2	A	G	10: 83,119,631 (GRCm39)	L377P	probably damaging	Het
Svil	T	C	18: 5,058,126 (GRCm39)	Y630H	possibly damaging	Het
Tbata	A	G	10: 61,011,626 (GRCm39)	H54R	probably benign	Het
Tnfaip2	C	A	12: 111,412,069 (GRCm39)	Q157K	possibly damaging	Het
Trappc14	T	C	5: 138,259,862 (GRCm39)	D398G	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn2r74	T	A	7: 85,610,619 (GRCm39)	R24S	probably benign	Het
Vmn2r90	G	A	17: 17,953,638 (GRCm39)	V601M	possibly damaging	Het
Vmn2r-ps117	A	G	17: 19,043,940 (GRCm39)	T339A	probably benign	Het
Xirp2	C	T	2: 67,341,106 (GRCm39)	H1116Y	possibly damaging	Het
Xrcc1	A	G	7: 24,265,690 (GRCm39)	D156G	probably benign	Het

Other mutations in Prkn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Prkn	UTSW	17	12,073,650 (GRCm39)	missense	probably damaging	1.00
FR4340:Prkn	UTSW	17	12,073,650 (GRCm39)	missense	probably damaging	1.00
FR4342:Prkn	UTSW	17	12,073,650 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Prkn	UTSW	17	11,286,130 (GRCm39)	missense	probably damaging	1.00
R0333:Prkn	UTSW	17	11,286,027 (GRCm39)	missense	probably damaging	1.00
R0543:Prkn	UTSW	17	11,286,066 (GRCm39)	missense	probably damaging	1.00
R4460:Prkn	UTSW	17	12,280,533 (GRCm39)	missense	probably damaging	1.00
R4710:Prkn	UTSW	17	12,073,720 (GRCm39)	missense	possibly damaging	0.89
R4742:Prkn	UTSW	17	11,456,591 (GRCm39)	critical splice donor site	probably null
R4752:Prkn	UTSW	17	12,223,010 (GRCm39)	missense	probably benign
R4911:Prkn	UTSW	17	11,059,359 (GRCm39)	utr 5 prime	probably benign
R5653:Prkn	UTSW	17	11,456,536 (GRCm39)	missense	probably damaging	1.00
R5654:Prkn	UTSW	17	11,456,536 (GRCm39)	missense	probably damaging	1.00
R5655:Prkn	UTSW	17	11,456,536 (GRCm39)	missense	probably damaging	1.00
R6360:Prkn	UTSW	17	12,222,939 (GRCm39)	missense	probably damaging	1.00
R6698:Prkn	UTSW	17	11,286,183 (GRCm39)	splice site	probably null
R7163:Prkn	UTSW	17	12,280,434 (GRCm39)	missense	probably damaging	1.00
R7241:Prkn	UTSW	17	12,073,748 (GRCm39)	missense	possibly damaging	0.63
R7475:Prkn	UTSW	17	11,653,501 (GRCm39)	missense	probably benign
R7630:Prkn	UTSW	17	11,456,455 (GRCm39)	missense	probably benign
R8278:Prkn	UTSW	17	12,269,609 (GRCm39)	missense	probably benign	0.26
R8299:Prkn	UTSW	17	11,456,408 (GRCm39)	missense	probably benign	0.25
R8551:Prkn	UTSW	17	11,286,103 (GRCm39)	missense	probably damaging	0.99
R8558:Prkn	UTSW	17	11,456,472 (GRCm39)	missense	probably benign
R8706:Prkn	UTSW	17	11,456,472 (GRCm39)	missense	probably benign
R8867:Prkn	UTSW	17	11,456,448 (GRCm39)	missense	probably benign	0.00
R9241:Prkn	UTSW	17	11,456,382 (GRCm39)	missense	probably benign	0.10
R9272:Prkn	UTSW	17	11,456,527 (GRCm39)	missense	probably damaging	1.00
R9450:Prkn	UTSW	17	12,057,521 (GRCm39)	missense	possibly damaging	0.95
R9665:Prkn	UTSW	17	11,286,062 (GRCm39)	missense	possibly damaging	0.72
R9779:Prkn	UTSW	17	11,854,318 (GRCm39)	missense	possibly damaging	0.60
R9796:Prkn	UTSW	17	11,456,554 (GRCm39)	missense	possibly damaging	0.84
X0010:Prkn	UTSW	17	11,456,463 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCTAACCGTGAGCAGACC -3'
(R):5'- ACAAGGTTCCCTGTGAGTGG -3'

Sequencing Primer
(F):5'- TAACCGTGAGCAGACCCATGG -3'
(R):5'- AGGCTCACTCAGTTGCAAG -3'

Posted On

2022-09-12