|Institutional Source||Beutler Lab|
|Gene Name||dopamine receptor D3|
|Synonyms||D3 receptor, D3R|
|Is this an essential gene?||Possibly non essential (E-score: 0.391)|
|Stock #||R6052 (G1)|
|Chromosomal Location||43754026-43822932 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 43821283 bp (GRCm38)|
|Amino Acid Change||Proline to Threonine at position 321 (P321T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000155033 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023390] [ENSMUST00000229953]|
AA Change: P289T
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: P289T
AA Change: P321T
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (80/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show exploratory hyperactivity and increased locomotion and rearing behavior, with heterozygous mice displaying similar, but less pronounced, behaviors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Drd3||
(F):5'- TGCTGCAATGATGGAATGTTC -3'
(R):5'- AACCTGCCATTGCTGAGTTTTC -3'
(F):5'- AGCCTGTTTTCAGTTGTAAAGTCAG -3'
(R):5'- GAGTTTTCGAACCTCTAAGCTGAGC -3'