Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4340:Prkn'

511181

Institutional Source

Beutler Lab

Gene Symbol

Prkn

Ensembl Gene

ENSMUSG00000023826

Gene Name

parkin RBR E3 ubiquitin protein ligase

Synonyms

PRKN, Parkin, Park2

Accession Numbers

Essential gene?

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

Stock #

FR4340 ()

Quality Score

221.999

Status

Not validated

Chromosome

Chromosomal Location

11059271-12282248 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12073650 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Valine to Methionine at position 323 (V323M)

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

unknown
Transcript: ENSMUST00000179624
AA Change: V33M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190849

Predicted Effect

probably damaging
Transcript: ENSMUST00000191124
AA Change: V323M

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

SMART Domains

Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: V323M

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: 99.7%
3x: 99.4%
10x: 97.8%
20x: 94.3%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
4930578G10Rik	G	T	4: 42,761,098 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,470,549 (GRCm39)		probably benign	Homo
Arpc1b	CC	CCTGGTC	5: 145,063,602 (GRCm39)		probably null	Het
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Blm	ACCT	ACCTGCCT	7: 80,113,515 (GRCm39)		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,658 (GRCm39)		probably benign	Het
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,655 (GRCm39)		probably benign	Het
Bltp1	TATTATTAT	TATTATTATTATTATCATTATTAT	3: 37,104,901 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 85,365,352 (GRCm39)		probably benign	Het
Cacna1f	AGG	AGGCGG	X: 7,486,306 (GRCm39)		probably benign	Het
Calhm1	CTCTGTGGCTGTGGCTGTGGCTGTG	CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG	19: 47,129,690 (GRCm39)		probably benign	Het
Casz1	ACCACAGCCACAGCCACAGCCAC	ACCACAGCCACAGCCAC	4: 149,036,759 (GRCm39)		probably benign	Homo
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cd80	GAA	GAAAAA	16: 38,306,678 (GRCm39)		probably benign	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Crygc	A	T	1: 65,110,822 (GRCm39)	F155Y	probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,779 (GRCm39)		probably benign	Het
Cyp2d11	T	TGGGA	15: 82,274,223 (GRCm39)		probably null	Homo
Dbr1	AGG	AGGAGGCGG	9: 99,465,754 (GRCm39)		probably benign	Het
Dennd10	CT	CTTTT	19: 60,803,059 (GRCm39)		probably benign	Homo
Dennd2b	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,156,128 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dnah8	ACACTGCC	AC	17: 30,854,437 (GRCm39)		probably benign	Het
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
Frem3	CT	CTTTT	8: 81,341,870 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
G530012D18Rik	CACACAGAGAGAGAGAGAGAGAGAGA	CA	1: 85,504,873 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm14393	T	C	2: 174,903,427 (GRCm39)	E160G	possibly damaging	Het
Gm16519	A	AGAAC	17: 71,236,333 (GRCm39)		probably null	Homo
Gm4340	GCAG	GCAACAG	10: 104,031,959 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,031,936 (GRCm39)		probably null	Het
Gpatch11	AGGAAG	AGGAAGGGGAAG	17: 79,149,603 (GRCm39)		probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,314,007 (GRCm39)		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,314,009 (GRCm39)		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,839,019 (GRCm39)		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,788 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,794 (GRCm39)		probably benign	Het
Krt10	CCTCCT	CCTCCTTCTCCT	11: 99,280,100 (GRCm39)		probably benign	Het
Krt10	CAC	CACGAC	11: 99,277,028 (GRCm39)		probably benign	Het
Krt10	ACCG	ACCGCCG	11: 99,277,029 (GRCm39)		probably benign	Homo
Las1l	TCCTC	TCCTCTACCTC	X: 94,984,228 (GRCm39)		probably benign	Het
Lce1a1	C	T	3: 92,554,151 (GRCm39)	G108S	unknown	Het
Lkaaear1	CCAGCTCCAG	CCAGCTCCAGCTGCAGCTCCAG	2: 181,339,387 (GRCm39)		probably benign	Het
Lrit3	CTG	CTGTTG	3: 129,582,457 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGAAG	X: 70,162,452 (GRCm39)		probably benign	Het
Mapk7	TGCTGGCGCTGGTGCTGGCGCTGG	TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG	11: 61,381,032 (GRCm39)		probably benign	Het
Mast4	GCA	GCAGTGTCA	13: 102,872,825 (GRCm39)		probably benign	Homo
Mast4	TTTT	TTTTATTT	13: 102,871,365 (GRCm39)		probably null	Het
Med12l	AGC	AGCCGC	3: 59,183,406 (GRCm39)		probably benign	Het
Mfsd5	G	A	15: 102,189,596 (GRCm39)	V323I	probably benign	Het
Nacad	GTC	GTCAGGATC	11: 6,549,761 (GRCm39)		probably benign	Het
Naip1	A	C	13: 100,559,584 (GRCm39)	M1140R	probably benign	Het
Nbea	TTTA	T	3: 55,916,633 (GRCm39)		probably benign	Homo
Nefh	CTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,040 (GRCm39)		probably benign	Homo
Nefh	ACTTGGCCTCACCTGGGG	ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG	11: 4,891,033 (GRCm39)		probably benign	Het
Nefh	GCCTCACCTGGGGACTTGGCCTC	GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,038 (GRCm39)		probably benign	Homo
Neu1	TCTTCTA	T	17: 35,151,534 (GRCm39)		probably benign	Het
Nutf2	G	T	8: 106,603,202 (GRCm39)	D78Y	probably damaging	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5e1	AT	ATGATATT	7: 108,354,161 (GRCm39)		probably benign	Homo
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
Pdik1l	ACCAC	ACCACCCCCAC	4: 134,006,823 (GRCm39)		probably benign	Het
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Pik3c2g	AG	AGAGGG	6: 139,612,654 (GRCm39)		probably null	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Prag1	C	CAGT	8: 36,571,040 (GRCm39)		probably benign	Homo
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Serpina3i	CGG	CGGTGG	12: 104,231,423 (GRCm39)		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,646,815 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,784 (GRCm39)		probably benign	Het
Sp140l1	A	C	1: 85,087,072 (GRCm39)	N6K	probably damaging	Het
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GCTGCTGCTGCTG	GCTGCTGCTGCTGCTG	Y: 2,662,824 (GRCm39)		probably benign	Het
Tbr1	A	C	2: 61,636,691 (GRCm39)		probably benign	Het
Tdpoz2	T	TCC	3: 93,558,922 (GRCm39)		probably null	Homo
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tgoln1	AAG	AAGCCTCAG	6: 72,593,334 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Het
Tob1	CA	CAGAA	11: 94,105,303 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,280 (GRCm39)		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,105,286 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Triobp	TCGG	TCGGCGG	15: 78,877,590 (GRCm39)		probably benign	Homo
Tsbp1	GC	GCAAC	17: 34,679,051 (GRCm39)		probably benign	Het
Tsbp1	CAG	CAGTAG	17: 34,679,034 (GRCm39)		probably null	Het
Tsbp1	GCA	GCATCA	17: 34,679,042 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGGGG	6: 115,537,027 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,537,030 (GRCm39)		probably benign	Homo
Ubtf	TCC	TCCCCC	11: 102,197,776 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,561,032 (GRCm39)		probably benign	Homo
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp384	AAGCCCAGGCCCAGGCCCAGGCCCA	AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA	6: 125,013,426 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp598	CCACAGGC	CC	17: 24,898,346 (GRCm39)		probably benign	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,899,757 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,273 (GRCm39)		probably benign	Het
Zfp933	GCTT	GCTTTTCTT	4: 147,910,186 (GRCm39)		probably null	Homo
Zfp936	G	A	7: 42,838,913 (GRCm39)	G127R	possibly 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
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
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'- TGCTGGGTCACACTTTTACC -3'
(R):5'- CGGTCTCCACAAAAGCAAGG -3'

Sequencing Primer
(F):5'- GGGTCACACTTTTACCCCATATC -3'
(R):5'- GGATGTGGTCAGTACTCA -3'

Posted On

2018-04-05