Adra1a - SNV Details



 Gene Information 
Gene Name Adra1a
Old Gene Names for Adra1a Adra1 , Adra-1 , Gpcr8 , Adra1c
Gene Description adrenergic receptor, alpha 1a [Source:MGI Symbol;Acc:MGI:104773]
MGI phenotype Mutations in this gene result in hypotension.
Uniprot Name
CCDS Name
Gene GO
negative regulation of synaptic transmission
GABAergic; activation of phospholipase C activity; membrane; pilomotor reflex; positive regulation of cardiac muscle contraction; positive regulation of heart rate by epinephrine-norepinephrine; cell growth; calcium ion transport into cytosol; negative regulation of Rho protein signal transduction; positive regulation of action potential; negative regulation of heart rate involved in baroreceptor response to increased systemic arterial blood pressure; organ growth; adult heart development; positive regulation of smooth muscle contraction; micturition; regulation of cardiac muscle contraction; positive regulation of MAPK cascade; norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure; positive regulation of cytosolic calcium ion concentration; T-tubule; integral component of membrane; positive regulation of ERK1 and ERK2 cascade; positive regulation of systemic arterial blood pressure; nucleus; positive regulation of heart rate; alpha1-adrenergic receptor activity; Z disc; aging; response to drug; G-protein coupled receptor activity; response to hormone; G-protein coupled receptor signaling pathway; positive regulation of synaptic transmission
GABAergic; plasma membrane; positive regulation of vasoconstriction; positive regulation of the force of heart contraction by epinephrine-norepinephrine; adrenergic receptor signaling pathway; phospholipase C-activating G-protein coupled receptor signaling pathway; positive regulation of protein kinase C signaling; regulation of vasoconstriction; protein heterodimerization activity; nuclear membrane
Homolog in other species ADRA1A
Omim http://omim.org/entry/104219
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000045875
Chromosome 14
Coordinate 66,727,532     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 91
Allele Frequency
A:R0.46
T:V0.54
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL02751
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.31
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved