|Institutional Source||Beutler Lab|
|Gene Name||leucine-rich repeat kinase 2|
|Synonyms||9330188B09Rik, 4921513O20Rik, LOC381026, cI-46, D630001M17Rik|
|Is this an essential gene?||Possibly essential (E-score: 0.563)|
|Stock #||R3938 (G1)|
|Chromosomal Location||91673175-91816120 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 91712780 bp|
|Amino Acid Change||Aspartic acid to Valine at position 525 (D525V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052584 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060642]|
|Predicted Effect||possibly damaging
AA Change: D525V
PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D525V
|Meta Mutation Damage Score||0.0629|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired response to dopamine, amphetamine, and quinpirole. Mice homozygous for one knock-out allele exhibit increased neurite growth. Mice homozygous for different knock-out alleles exhibit alopecia due to excessive grooming or kdiney atrophy. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrrk2||
(F):5'- CAGCAGAGATGTGAATGCTTTC -3'
(R):5'- TGCTACAATCACCCTGAGTTC -3'
(F):5'- CAGAGATGTGAATGCTTTCAATGAG -3'
(R):5'- CAATCACCCTGAGTTCTAATTATGAC -3'