Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Park2'

676045

Institutional Source

Beutler Lab

Gene Symbol

Park2

Ensembl Gene

ENSMUSG00000023826

Gene Name

Parkinson disease (autosomal recessive, juvenile) 2, parkin

Synonyms

PRKN

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10840384-12063361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11237561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 91 (T91A)

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: T90A

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

SMART Domains

Protein: ENSMUSP00000127455
Gene: ENSMUSG00000023826
AA Change: T90A

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: T91A

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

SMART Domains

Protein: ENSMUSP00000140587
Gene: ENSMUSG00000023826
AA Change: T91A

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: T90A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,942,850	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 193,175,098	S253P	probably damaging	Het
Acbd5	T	C	2: 23,080,358	M97T	possibly damaging	Het
Aire	T	C	10: 78,037,975	E300G	probably damaging	Het
Ano1	A	G	7: 144,669,660	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,477,256	N732D	probably benign	Het
Apcs	A	T	1: 172,894,437	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,589,966		probably benign	Het
Asxl3	C	A	18: 22,516,490	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,244,924	T388A	probably damaging	Het
Bcl2a1a	A	T	9: 88,957,450	I134L	probably damaging	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Cmbl	C	A	15: 31,581,927	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,762,557	I262N	probably damaging	Het
Col6a3	C	T	1: 90,787,951	R2260H	unknown	Het
Cracr2a	T	A	6: 127,629,773	L260*	probably null	Het
Csmd2	A	G	4: 128,557,676	Y3409C		Het
Cyp4b1	C	T	4: 115,635,972	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
Dnah6	A	G	6: 73,021,148	L4097P	probably damaging	Het
Dpcr1	A	T	17: 35,637,980	F242L	probably benign	Het
Dppa3	G	A	6: 122,628,643	R52Q	probably benign	Het
Fbxo31	C	T	8: 121,555,228	R311H	probably benign	Het
Fhad1	T	C	4: 141,929,574	R90G	probably damaging	Het
Fitm2	A	T	2: 163,469,682	W204R	possibly damaging	Het
Gatb	T	A	3: 85,604,409	L157H	probably damaging	Het
Gm34653	A	G	2: 34,838,624	D145G	probably damaging	Het
Gm5111	G	A	6: 48,589,695		probably null	Het
Gm7298	A	C	6: 121,771,829	I688L	probably benign	Het
Hecw1	T	C	13: 14,247,690		probably null	Het
Ift122	T	A	6: 115,880,671	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,627,499	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,968,179	V902A	probably damaging	Het
Klhl38	T	C	15: 58,315,039	M512V	probably benign	Het
Klk1b1	A	C	7: 43,970,323	N102T	probably damaging	Het
Lama4	T	A	10: 39,048,000	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,238,166	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 158,161,884	D740V	probably damaging	Het
Mapk7	G	T	11: 61,493,806	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,470,704	A217D	probably benign	Het
Ncaph2	A	G	15: 89,370,402	E406G	probably benign	Het
Ncor2	T	C	5: 125,102,675	I69V	unknown	Het
Nfatc3	A	G	8: 106,079,008	S170G	probably damaging	Het
Nptn	G	A	9: 58,618,981	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,282,757	K1581N	probably damaging	Het
Olfr1105	G	T	2: 87,033,459	T254K	probably damaging	Het
Olfr224	A	G	11: 58,566,736	L203P	probably damaging	Het
Olfr357	T	C	2: 36,997,679	Y290H	probably damaging	Het
Olfr597	T	A	7: 103,321,242	L277Q		Het
Olfr630	G	A	7: 103,754,686	Q300*	probably null	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Pdcl	T	C	2: 37,352,336	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,244,417	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,573,833	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,333,097	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,546,449		probably benign	Het
Rgs18	T	A	1: 144,753,960	D187V	probably damaging	Het
Ripor2	C	T	13: 24,638,777		probably benign	Het
Rnf165	T	C	18: 77,475,486	E159G	possibly damaging	Het
Rpl3l	G	A	17: 24,735,481	G172D	probably damaging	Het
Sdf4	A	G	4: 156,009,302	T298A	probably damaging	Het
Slc17a3	T	C	13: 23,855,960	V327A		Het
Slc4a1ap	T	A	5: 31,550,715	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256	V324A	probably benign	Het
Syne2	A	G	12: 75,942,846	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,627,055	N481D	possibly damaging	Het
Tert	T	C	13: 73,628,447	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,687	D1181E		Het
Tln2	G	A	9: 67,330,550	T33I	probably damaging	Het
Top3a	A	G	11: 60,742,655	S872P	probably benign	Het
Trim10	T	C	17: 36,870,156	L93P	probably benign	Het
Trpc7	C	T	13: 56,860,933	S307N	probably benign	Het
Ttc37	C	T	13: 76,131,309	S620L	probably damaging	Het
Ttn	A	T	2: 76,810,083	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,184,101	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,553,667	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfp683	C	T	4: 134,058,684	T374I	probably damaging	Het

Other mutations in Park2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Park2	UTSW	17	11854763	missense	probably damaging	1.00
FR4340:Park2	UTSW	17	11854763	missense	probably damaging	1.00
FR4342:Park2	UTSW	17	11854763	missense	probably damaging	1.00
PIT4651001:Park2	UTSW	17	11067243	missense	probably damaging	1.00
R0333:Park2	UTSW	17	11067140	missense	probably damaging	1.00
R0543:Park2	UTSW	17	11067179	missense	probably damaging	1.00
R4460:Park2	UTSW	17	12061646	missense	probably damaging	1.00
R4710:Park2	UTSW	17	11854833	missense	possibly damaging	0.89
R4742:Park2	UTSW	17	11237704	critical splice donor site	probably null
R4752:Park2	UTSW	17	12004123	missense	probably benign
R4911:Park2	UTSW	17	10840472	utr 5 prime	probably benign
R5653:Park2	UTSW	17	11237649	missense	probably damaging	1.00
R5654:Park2	UTSW	17	11237649	missense	probably damaging	1.00
R5655:Park2	UTSW	17	11237649	missense	probably damaging	1.00
R6360:Park2	UTSW	17	12004052	missense	probably damaging	1.00
R6698:Park2	UTSW	17	11067296	splice site	probably null
R7163:Park2	UTSW	17	12061547	missense	probably damaging	1.00
R7241:Park2	UTSW	17	11854861	missense	possibly damaging	0.63
R7475:Park2	UTSW	17	11434614	missense	probably benign
R7630:Park2	UTSW	17	11237568	missense	probably benign
R8278:Park2	UTSW	17	12050722	missense	probably benign	0.26
R8299:Park2	UTSW	17	11237521	missense	probably benign	0.25
R8551:Park2	UTSW	17	11067216	missense	probably damaging	0.99
R8558:Park2	UTSW	17	11237585	missense	probably benign
R8706:Park2	UTSW	17	11237585	missense	probably benign
R9241:Park2	UTSW	17	11237495	missense	probably benign	0.10
R9272:Park2	UTSW	17	11237640	missense	probably damaging	1.00
R9450:Park2	UTSW	17	11838634	missense	possibly damaging	0.95
X0010:Park2	UTSW	17	11237576	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTCAATGCCACTGTTTCTGG -3'
(R):5'- ACAAACATGTTCAGTAGCCTTAAGC -3'

Sequencing Primer
(F):5'- CCACTGTTTCTGGTAGCAATTGAAC -3'
(R):5'- GCAGAATTACAGCAGTTACCTG -3'

Posted On

2021-07-15