Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Prkn'

557764

Institutional Source

Beutler Lab

Gene Symbol

Prkn

Ensembl Gene

ENSMUSG00000023826

Gene Name

parkin RBR E3 ubiquitin protein ligase

Synonyms

PRKN, Parkin, Park2

MMRRC Submission

045330-MU

Accession Numbers

Essential gene?

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

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11059271-12282248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12280434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 430 (C430Y)

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: C430Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: C430Y

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,319,372 (GRCm39)	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,484,848 (GRCm39)	G19D	probably damaging	Het
Abca3	A	T	17: 24,583,916 (GRCm39)	M102L	probably benign	Het
Adam19	A	T	11: 46,022,544 (GRCm39)	Y499F	probably benign	Het
Adck2	T	C	6: 39,560,797 (GRCm39)	V444A	probably damaging	Het
Adck5	T	C	15: 76,478,016 (GRCm39)	V214A	probably damaging	Het
Agrn	G	A	4: 156,262,966 (GRCm39)	T437M	probably damaging	Het
Aox3	A	T	1: 58,158,671 (GRCm39)	I81F	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Blmh	A	G	11: 76,836,987 (GRCm39)	Y23C	unknown	Het
Cacnb1	A	G	11: 97,903,726 (GRCm39)	V109A	probably benign	Het
Ccdc27	C	T	4: 154,117,282 (GRCm39)	R555H	not run	Het
Cep170	A	C	1: 176,602,031 (GRCm39)	S358R	probably damaging	Het
Cfap46	A	T	7: 139,197,994 (GRCm39)		probably null	Het
Dclk1	G	T	3: 55,163,549 (GRCm39)	E214*	probably null	Het
Dhrs1	A	G	14: 55,976,838 (GRCm39)	L282P	probably benign	Het
Dlgap5	A	G	14: 47,637,095 (GRCm39)	L461P	probably damaging	Het
Elp2	G	T	18: 24,747,503 (GRCm39)	C185F	probably benign	Het
Fbxw7	T	C	3: 84,832,892 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,933,571 (GRCm39)	V17A	probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm43302	T	A	5: 105,441,493 (GRCm39)		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hcn1	A	T	13: 118,062,083 (GRCm39)	I450L	unknown	Het
Hydin	T	A	8: 111,329,968 (GRCm39)	C4901S	probably benign	Het
Ino80	A	T	2: 119,223,356 (GRCm39)	I1186N	probably damaging	Het
Ints7	T	A	1: 191,349,949 (GRCm39)	I781N	possibly damaging	Het
Irf2	T	A	8: 47,290,712 (GRCm39)	V178E	possibly damaging	Het
Iws1	T	A	18: 32,226,277 (GRCm39)	S722T	possibly damaging	Het
Jak1	G	A	4: 101,032,385 (GRCm39)	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,609,061 (GRCm39)	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940 (GRCm39)	S169P	probably damaging	Het
Kif15	A	G	9: 122,846,722 (GRCm39)	N1348S	probably damaging	Het
Kpna7	G	A	5: 144,939,206 (GRCm39)	P187L	unknown	Het
Krt35	A	T	11: 99,986,984 (GRCm39)	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,184,475 (GRCm39)	V131F	probably benign	Het
Mcf2l	G	A	8: 12,965,439 (GRCm39)	R4H	probably benign	Het
Megf6	C	T	4: 154,351,898 (GRCm39)	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,762,410 (GRCm39)	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,238 (GRCm39)	V121A	probably benign	Het
Myl2	T	A	5: 122,239,885 (GRCm39)	I26N	probably damaging	Het
Myo15a	A	G	11: 60,389,195 (GRCm39)	M862V		Het
Nckap5l	T	C	15: 99,331,354 (GRCm39)	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,821,774 (GRCm39)	E90A	probably benign	Het
Nup210	G	T	6: 91,050,313 (GRCm39)	N385K	probably damaging	Het
Or2h2	T	C	17: 37,396,937 (GRCm39)	N40S	probably damaging	Het
Or2t48	C	A	11: 58,419,994 (GRCm39)	E273*	probably null	Het
Or5m11b	T	A	2: 85,805,932 (GRCm39)	L115Q	probably damaging	Het
Or8c19-ps1	T	C	9: 38,220,345 (GRCm39)	F85L	probably damaging	Het
Or9e1	T	C	11: 58,732,012 (GRCm39)	V24A	probably benign	Het
Pcmt1	A	T	10: 7,513,922 (GRCm39)	M249K	probably benign	Het
Pde3a	T	C	6: 141,433,270 (GRCm39)	L767P	probably damaging	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,416 (GRCm39)	K690*	probably null	Het
Plxna4	T	C	6: 32,473,691 (GRCm39)	H442R	probably benign	Het
Polr1b	A	G	2: 128,967,931 (GRCm39)	D1108G	probably benign	Het
Sec23ip	T	C	7: 128,364,257 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,086,911 (GRCm39)	D57G	probably benign	Het
Sprtn	T	G	8: 125,625,044 (GRCm39)	F50V	probably damaging	Het
Srr	A	G	11: 74,803,828 (GRCm39)	F43S	probably damaging	Het
Szt2	A	G	4: 118,262,727 (GRCm39)	F17L	possibly damaging	Het
Taar1	G	T	10: 23,796,918 (GRCm39)	M205I	probably benign	Het
Tas2r143	A	G	6: 42,377,202 (GRCm39)	I11V	probably benign	Het
Tlx1	T	C	19: 45,139,655 (GRCm39)	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,977,503 (GRCm39)		probably null	Het
Vhl	A	G	6: 113,606,451 (GRCm39)	D156G	possibly damaging	Het
Washc4	T	A	10: 83,426,897 (GRCm39)	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,358,076 (GRCm39)	V101A	probably benign	Het
Zfp82	T	C	7: 29,761,669 (GRCm39)	R71G	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
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
R9607:Prkn	UTSW	17	12,222,963 (GRCm39)	missense	probably damaging	0.99
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'- TTCTCTAGAGCATCCGGACC -3'
(R):5'- GCTTCTGTAATCTGCAGCCTG -3'

Sequencing Primer
(F):5'- TAGAGCATCCGGACCCAGGAG -3'
(R):5'- CGCATTTATGTGCTTATATGCATCG -3'

Posted On

2019-06-26