|Institutional Source||Beutler Lab|
|Gene Name||PARK2 co-regulated|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0373 (G1)|
|Chromosomal Location||10403012-10840311 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 10403418 bp|
|Amino Acid Change||Isoleucine to Threonine at position 209 (I209T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044376 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041463]|
|Predicted Effect||probably damaging
AA Change: I209T
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I209T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Along with altered levele of the Qki transcript, both Pacrg and Park2 are inactivated as a result of a 1.85 Mb deletion in the in the quaking mouse. The quaking mouse is a spontaneous dysmyelinating mutant that demonstrates abnormal locomotion, tremor, and tonic-clonic seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pacrg||
(F):5'- GAGCCAGATAGAGACGCAATTCTCC -3'
(R):5'- GTTGCCACCAGCCTCAAATTTCAG -3'
(F):5'- GCCTTGCTTACAATAGGGCTAAC -3'
(R):5'- ATAGCGTGAAATTGTGACCTGTC -3'