|Institutional Source||Beutler Lab|
|Gene Name||dopamine receptor D4|
|Is this an essential gene?||Probably non essential (E-score: 0.072)|
|Stock #||R3109 (G1)|
|Chromosomal Location||141292006-141296464 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 141292282 bp (GRCm38)|
|Amino Acid Change||Valine to Glutamic Acid at position 82 (V82E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026569 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026569] [ENSMUST00000080553]|
AA Change: V82E
PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: V82E
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are less active in open field tests and have reduced responses to novelty. However, mice exhibit locomotor supersensitivity to ethanol, cocaine, and methamphetamine. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Drd4||
(F):5'- GTTCAGCAGTGGCACCATGG -3'
(R):5'- TGGGTAGGTAGCTCTCAGAC -3'
(F):5'- CAGTGGCACCATGGGGAAC -3'
(R):5'- CTCTCAGACAGAGTAGGAAGGAATCC -3'