Mutagenetix > Incidental Mutation

Incidental Mutation 'R7475:Prkn'

579451

Institutional Source

Beutler Lab

Gene Symbol

Prkn

Ensembl Gene

ENSMUSG00000023826

Gene Name

parkin RBR E3 ubiquitin protein ligase

Synonyms

PRKN, Parkin, Park2

MMRRC Submission

045549-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11059271-12282248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11653501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 199 (D199G)

Ref Sequence

ENSEMBL: ENSMUSP00000140587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168593] [ENSMUST00000191124] [ENSMUST00000218435]

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 benign
Transcript: ENSMUST00000168593
AA Change: D198G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127455
Gene: ENSMUSG00000023826
AA Change: D198G

Domain	Start	End	E-Value	Type
UBQ	2	71	1.31e-13	SMART
Blast:UBQ	202	229	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000191124
AA Change: D199G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: D199G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218435
AA Change: D198G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,218,739 (GRCm39)	N214K	probably benign	Het
Abcf1	A	G	17: 36,274,459 (GRCm39)		probably null	Het
Agxt2	A	T	15: 10,409,623 (GRCm39)	M508L	probably benign	Het
Akr1c21	A	T	13: 4,626,318 (GRCm39)	Y114F	probably benign	Het
Amz1	T	C	5: 140,729,941 (GRCm39)		probably null	Het
Ank1	G	T	8: 23,622,646 (GRCm39)	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,687,805 (GRCm39)	S50P	possibly damaging	Het
AW551984	A	G	9: 39,509,236 (GRCm39)	S302P	probably damaging	Het
Ccn6	T	A	10: 39,034,296 (GRCm39)	Y102F	probably damaging	Het
Ces3a	T	A	8: 105,780,322 (GRCm39)		probably null	Het
Dedd	C	A	1: 171,167,881 (GRCm39)	P185Q	probably benign	Het
Fam186a	A	T	15: 99,845,395 (GRCm39)	V283E	unknown	Het
Fat2	C	A	11: 55,194,479 (GRCm39)	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,661,999 (GRCm39)		probably null	Het
Fcgbp	C	T	7: 27,802,401 (GRCm39)	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,814,801 (GRCm39)	D279G	probably benign	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm49368	A	T	7: 127,707,154 (GRCm39)	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330 (GRCm39)	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,230,267 (GRCm39)	D195E	possibly damaging	Het
Hectd4	T	A	5: 121,496,196 (GRCm39)		probably null	Het
Ifngr2	G	A	16: 91,354,797 (GRCm39)	C32Y	unknown	Het
Ikzf5	A	T	7: 130,993,788 (GRCm39)	C280S	probably benign	Het
Ints9	G	T	14: 65,263,914 (GRCm39)	E395D	probably null	Het
Isoc2b	T	C	7: 4,854,084 (GRCm39)	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,061,092 (GRCm39)	S967R	probably benign	Het
Kcnj3	A	T	2: 55,327,338 (GRCm39)	K42N	probably benign	Het
Kiz	T	C	2: 146,733,006 (GRCm39)	V394A	possibly damaging	Het
Knl1	A	T	2: 118,918,027 (GRCm39)	H1795L	probably damaging	Het
Lmntd2	A	G	7: 140,790,602 (GRCm39)		probably null	Het
Loxhd1	C	A	18: 77,500,001 (GRCm39)	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,234,588 (GRCm39)	D1121G		Het
Map3k2	T	C	18: 32,333,015 (GRCm39)	V63A	possibly damaging	Het
Mcc	G	T	18: 44,609,303 (GRCm39)	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,264,400 (GRCm39)	I232F	probably damaging	Het
Meltf	A	G	16: 31,700,756 (GRCm39)	K92R	probably benign	Het
Mff	T	A	1: 82,723,159 (GRCm39)		probably null	Het
Mrgpra3	T	A	7: 47,239,695 (GRCm39)	Y77F	probably damaging	Het
Mylk	G	A	16: 34,734,446 (GRCm39)		probably null	Het
Ndufv2	A	G	17: 66,394,532 (GRCm39)	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,973,861 (GRCm39)	E99G	probably damaging	Het
Nlk	C	A	11: 78,474,225 (GRCm39)	G358V	probably damaging	Het
Nnmt	A	T	9: 48,503,532 (GRCm39)	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,304,640 (GRCm39)	C242*	probably null	Het
Oas1b	A	T	5: 120,955,705 (GRCm39)	N162I	probably damaging	Het
Or4s2	A	G	2: 88,473,554 (GRCm39)	I148V	probably benign	Het
Otog	A	G	7: 45,916,700 (GRCm39)	N879S	probably damaging	Het
Pcsk7	T	A	9: 45,838,923 (GRCm39)	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pgbd5	T	C	8: 125,160,750 (GRCm39)	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,368,581 (GRCm39)	Q800*	probably null	Het
Pkn3	T	C	2: 29,977,122 (GRCm39)	S621P	probably benign	Het
Polr3c	T	C	3: 96,622,501 (GRCm39)	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,863,031 (GRCm39)	G257W	probably benign	Het
Pxylp1	C	T	9: 96,738,420 (GRCm39)		probably null	Het
Rasgrp1	T	C	2: 117,116,589 (GRCm39)	T613A	probably benign	Het
Robo3	C	T	9: 37,336,674 (GRCm39)	V387I	probably benign	Het
Rxfp2	T	A	5: 149,973,046 (GRCm39)	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,604,379 (GRCm39)	M746V	probably damaging	Het
Sema4f	T	A	6: 82,891,355 (GRCm39)	E571D	possibly damaging	Het
Septin3	T	C	15: 82,170,657 (GRCm39)	V217A	probably benign	Het
Serpinb1b	A	C	13: 33,277,548 (GRCm39)	K260N	probably benign	Het
Sin3b	A	G	8: 73,476,500 (GRCm39)	T645A	possibly damaging	Het
Sobp	C	T	10: 42,897,830 (GRCm39)	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,082,281 (GRCm39)	L559Q	possibly damaging	Het
Srxn1	C	T	2: 151,947,573 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,432,794 (GRCm39)	R890Q	probably benign	Het
Stard9	A	G	2: 120,518,591 (GRCm39)	D505G	probably damaging	Het
Tjp1	A	T	7: 64,972,087 (GRCm39)	I653K	probably damaging	Het
Tnks	C	T	8: 35,298,866 (GRCm39)	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,579,121 (GRCm39)	I667N	probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Usp46	T	A	5: 74,189,598 (GRCm39)	K109*	probably null	Het
Vmn1r191	A	G	13: 22,362,942 (GRCm39)	C271R	probably benign	Het
Zfp592	T	C	7: 80,673,200 (GRCm39)	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,351,867 (GRCm39)	S158P	probably benign	Het
Zscan22	T	G	7: 12,640,664 (GRCm39)	C303G	probably damaging	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
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'- CAATGGGAAGGCATCACAATC -3'
(R):5'- TACGGGGAGAGTCTTGGTGAAC -3'

Sequencing Primer
(F):5'- TGGGAAGGCATCACAATCAATCAATC -3'
(R):5'- AACTGGTTATCACGTCTGGAC -3'

Posted On

2019-10-07