Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Prkn'

511060

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: 0.157) question?

Stock #

FR4304 ()

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 12073650 bp (GRCm39)

Zygosity

Heterozygous

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 96.4%

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: 137 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,634,883 (GRCm39)		probably benign	Homo
1700001K19Rik	TTC	TTCGTC	12: 110,634,884 (GRCm39)		probably benign	Homo
4930433I11Rik	ACCTC	AC	7: 40,642,480 (GRCm39)		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,928,061 (GRCm39)		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 102,994,931 (GRCm39)		probably null	Homo
Ahdc1	CT	CTCTT	4: 132,790,070 (GRCm39)		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 80,727,510 (GRCm39)		probably benign	Het
Anapc4	C	T	5: 53,021,868 (GRCm39)	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,693,977 (GRCm39)		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,591,163 (GRCm39)		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,415,050 (GRCm39)		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 76,935,636 (GRCm39)		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,232,736 (GRCm39)		probably benign	Het
Arpc1b	GCC	GCCTGTCC	5: 145,063,601 (GRCm39)		probably null	Het
Blm	CT	CTACGT	7: 80,113,521 (GRCm39)		probably null	Homo
Blm	TCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCC	7: 80,162,667 (GRCm39)		probably benign	Het
Btnl10	GA	GAATA	11: 58,814,756 (GRCm39)		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,486,300 (GRCm39)		probably benign	Het
Calhm3	CG	CGG	19: 47,140,335 (GRCm39)		probably null	Homo
Catsper2	C	CTTTTACTTTTTA	2: 121,228,023 (GRCm39)		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,228,263 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Ccdc15	AC	ACTTTCC	9: 37,226,453 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,432,117 (GRCm39)	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,511,021 (GRCm39)		probably benign	Het
Ccdc73	TAAG	T	2: 104,822,185 (GRCm39)		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,240,871 (GRCm39)		probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,306,677 (GRCm39)		probably benign	Homo
Cep89	GACT	G	7: 35,109,066 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,500,217 (GRCm39)	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 31,091,124 (GRCm39)		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,099,107 (GRCm39)		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 47,047,669 (GRCm39)		probably benign	Het
Cnpy3	TCC	TCCACC	17: 47,047,672 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,407 (GRCm39)		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,080,415 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 155,913,945 (GRCm39)		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,457 (GRCm39)		probably benign	Het
Dhx37	CTGG	C	5: 125,504,594 (GRCm39)		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,629,014 (GRCm39)		probably benign	Homo
Dnaaf9	TCC	TCCCCC	2: 130,612,668 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dst	C	A	1: 34,240,045 (GRCm39)	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,763,728 (GRCm39)		probably benign	Homo
Ermn	TTC	TTCCTC	2: 57,938,090 (GRCm39)		probably benign	Het
Ermn	CTT	CTTGTT	2: 57,938,098 (GRCm39)		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,243 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,246 (GRCm39)		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,240 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,356,119 (GRCm39)		probably benign	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,545,633 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 71,313,648 (GRCm39)		probably benign	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,031,933 (GRCm39)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,031,943 (GRCm39)		probably benign	Het
Gm5114	T	C	7: 39,060,529 (GRCm39)	R107G	probably benign	Het
Gm5114	A	C	7: 39,060,530 (GRCm39)	H106Q	probably benign	Het
H1f6	GAGAA	GA	13: 23,879,903 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,431,173 (GRCm39)		probably null	Het
Ifi203	C	T	1: 173,755,894 (GRCm39)		probably benign	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
Il17rd	CGG	CGGTGG	14: 26,804,637 (GRCm39)		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,179,975 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,314,017 (GRCm39)		probably null	Het
Isg20l2	AAG	AAGCAG	3: 87,839,019 (GRCm39)		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,788 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,520,764 (GRCm39)		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,280,100 (GRCm39)		probably benign	Het
Las1l	GAG	GAGCAG	X: 94,984,426 (GRCm39)		probably benign	Het
Las1l	AGG	AGGCGG	X: 94,984,427 (GRCm39)		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,339,372 (GRCm39)		probably benign	Het
Lrch1	A	T	14: 75,057,005 (GRCm39)	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,582,468 (GRCm39)		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,532,755 (GRCm39)		probably benign	Homo
Mast4	T	TTTC	13: 102,871,370 (GRCm39)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,403 (GRCm39)		probably benign	Het
Muc21	T	G	17: 35,933,013 (GRCm39)		probably benign	Homo
Noc2l	TGC	TGCAGC	4: 156,324,553 (GRCm39)		probably benign	Het
Nrg3	G	GACATTT	14: 38,119,230 (GRCm39)		probably benign	Homo
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Homo
Patl2	GCT	GCTTCT	2: 121,956,616 (GRCm39)		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,006,685 (GRCm39)		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,612,654 (GRCm39)		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,468,290 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,283,249 (GRCm39)		probably null	Homo
Prr13	TCC	TCCCCC	15: 102,370,612 (GRCm39)		probably benign	Homo
Prrc2b	G	A	2: 32,111,179 (GRCm39)	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,891,421 (GRCm39)		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,557,632 (GRCm39)		probably benign	Homo
Scaf4	TGCGGC	TGC	16: 90,026,742 (GRCm39)		probably benign	Homo
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,928,796 (GRCm39)		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837 (GRCm39)		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 98,110,111 (GRCm39)		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,635,068 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,635,085 (GRCm39)		probably null	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Sytl1	CTCT	C	4: 132,984,304 (GRCm39)		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,968,814 (GRCm39)		probably benign	Het
Tdpoz2	T	TCA	3: 93,558,922 (GRCm39)		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,796,421 (GRCm39)		probably benign	Homo
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Ticrr	ATT	ATTTTT	7: 79,344,059 (GRCm39)		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,906 (GRCm39)		probably null	Homo
Tnfrsf9	T	TGCC	4: 151,018,852 (GRCm39)		probably benign	Homo
Tob1	GCA	GCAACA	11: 94,105,290 (GRCm39)		probably benign	Het
Tob1	CA	CAGTA	11: 94,105,303 (GRCm39)		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,887,207 (GRCm39)		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,877,587 (GRCm39)		probably benign	Homo
Tsbp1	A	AGCC	17: 34,679,029 (GRCm39)		probably benign	Het
Tsbp1	GC	GCATC	17: 34,679,051 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGGGG	6: 115,537,030 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,197,784 (GRCm39)		probably benign	Het
Vars1	TGG	TGGAGTCCTGGGCGG	17: 35,234,965 (GRCm39)		probably benign	Homo
Vmn1r171	C	T	7: 23,332,105 (GRCm39)	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,387,607 (GRCm39)	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zc3h13	CG	CGAGATGTGTG	14: 75,561,050 (GRCm39)		probably benign	Het
Zc3h13	AGATGTGCG	AGATGTGCGGGATGTGCG	14: 75,561,043 (GRCm39)		probably benign	Het
Zfp282	GGC	GGCCGC	6: 47,881,731 (GRCm39)		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,013,456 (GRCm39)		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,556,393 (GRCm39)		probably null	Homo
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757 (GRCm39)		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758 (GRCm39)		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,899,749 (GRCm39)		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,487,274 (GRCm39)		probably benign	Het

Other mutations in Prkn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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'- TCTCCACAAAAGCAAGGTGC -3'

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

Posted On

2018-04-05