|Institutional Source||Beutler Lab|
|Gene Name||Parkinson disease (autosomal recessive, juvenile) 2, parkin|
|Is this an essential gene?||Probably non essential (E-score: 0.208)|
|Stock #||R4710 (G1)|
|Chromosomal Location||10840384-12063361 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 11854833 bp|
|Amino Acid Change||Glutamine to Proline at position 346 (Q346P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000140587 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000191124]|
AA Change: Q56P
|Predicted Effect||noncoding transcript
|Predicted Effect||possibly damaging
AA Change: Q346P
PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Q346P
|Meta Mutation Damage Score||0.0979|
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
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||
|Other mutations in Park2||
(F):5'- CCCTGAACCGAACTGAGAAG -3'
(R):5'- CAGTTTCAGAGGTCGACTGC -3'
(F):5'- GAAGACAATCCTAGAGTCCTTTGAC -3'
(R):5'- AGTTTCAGAGGTCGACTGCTACTC -3'