|Institutional Source||Beutler Lab|
|Gene Name||dopamine receptor D1|
|Synonyms||Drd1a, D1 receptor, C030036C15Rik, Gpcr15, Drd-1|
|Is this an essential gene?||Possibly essential (E-score: 0.560)|
|Stock #||R0661 (G1)|
|Chromosomal Location||54051183-54055705 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 54053038 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 379 (N379Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152768 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021932] [ENSMUST00000221470]|
|Predicted Effect||probably benign
AA Change: N386Y
PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: N386Y
|Predicted Effect||possibly damaging
AA Change: N379Y
PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations show variably abnormalities that may include growth retardation, death after weaning unless given hydrated food, nonresponsiveness to dopamine D1 receptor agonists and antagonists, and normal to hyperactive locomotor activity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Drd1||
(F):5'- TGTAACTGTCCAAAAGCAGCAGAGG -3'
(R):5'- AGACCCAGCCATTCTGCATTGATTC -3'
(F):5'- CCCAATATTCAGGTTGAATGCTGTC -3'
(R):5'- GGCGAATTCCTCCCTGAAC -3'