|Institutional Source||Beutler Lab|
|Gene Name||adrenergic receptor, alpha 1d|
|Synonyms||Adra1, Gpcr8, alpha1D-AR, Adra1a, Adra-1|
|Is this an essential gene?||Probably non essential (E-score: 0.046)|
|Stock #||R1806 (G1)|
|Chromosomal Location||131545850-131562283 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 131546149 bp|
|Amino Acid Change||Arginine to Serine at position 495 (R495S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099473 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000103184]|
|Predicted Effect||probably benign
AA Change: R495S
PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: R495S
|Meta Mutation Damage Score||0.098|
|Coding Region Coverage||
|Validation Efficiency||96% (77/80)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display hypotension or reduced rearing behavior in a novel environment, decreased wheel-running activity during the night, and reduced hyperlocomotion after amphetamine administration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adra1d||
(F):5'- GCTCATAAGCCTGGCAGATG -3'
(R):5'- CTACTTCAATAGCTGTGTGAACCC -3'
(F):5'- TGGCAGATGACAGCCTCTG -3'
(R):5'- TCCAGTCGCGAGTTCAAG -3'