|Institutional Source||Beutler Lab|
|Gene Name||dopamine receptor D2|
|Synonyms||Drd-2, D2 receptor, D2R|
|Is this an essential gene?||Possibly non essential (E-score: 0.367)|
|Stock #||R6365 (G1)|
|Chromosomal Location||49340627-49408177 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 49406949 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 397 (N397I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075170 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075764]|
|Predicted Effect||probably damaging
AA Change: N397I
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: N397I
|Meta Mutation Damage Score||0.098|
|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 encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show Parkinson's disease like symptoms, including akinetic and bradykinetic behavior. Mice lacking only the long isoform are hypoactive and exhibit increased sterotypic behavior in response to dopamine agonists. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Drd2||
(F):5'- CAGTTAGCGGTCTTAGTGCC -3'
(R):5'- TTTCTGCCCACAGCTTGCAG -3'
(F):5'- TTAGCGGTCTTAGTGCCCCAAG -3'
(R):5'- CCACAGCTTGCAGGGATGAG -3'