|Institutional Source||Beutler Lab|
|Gene Name||dopamine receptor D3|
|Synonyms||D3 receptor, D3R|
|Is this an essential gene?||Probably non essential (E-score: 0.239)|
|Stock #||R1310 (G1)|
|Chromosomal Location||43754026-43822932 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 43821529 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 403 (K403E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000155033 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023390] [ENSMUST00000229953]|
|Predicted Effect||possibly damaging
AA Change: K371E
PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: K371E
|Predicted Effect||probably damaging
AA Change: K403E
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|Coding Region Coverage||
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'- TGAAACGCTACTACAGCATCTGCC -3'
(R):5'- CCTAATGTGTGCCACACGCTTTTG -3'
(F):5'- AGCATCTGCCAAGACACTG -3'
(R):5'- GATAGCCCAAATTAAGTGGCTTC -3'