|Institutional Source||Beutler Lab|
|Gene Name||adenosine A2a receptor|
|Synonyms||A2AAR, AA2AR, A2aR, A2a, Rs|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4808 (G1)|
|Chromosomal Location||75316877-75334784 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 75333446 bp|
|Amino Acid Change||Asparagine to Serine at position 248 (N248S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101060 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105420]|
|Predicted Effect||probably damaging
AA Change: N248S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N248S
|Meta Mutation Damage Score||0.296|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable and fertile with reduced exploratory activity and displaying depressive rather than stimulatory response to caffeine. Mutants test more anxious, were more aggressive towards intruders, and slower to respond to pain stimuli. Blood pressure and heart rate are increased, as well as platelet aggregation rate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adora2a||
(F):5'- ATGCTGGCCATCTACCTAAGG -3'
(R):5'- TAAGAAGCTCTACATCCCCAGGAG -3'
(F):5'- CACACTGCAGAAGGAAGT -3'
(R):5'- ATTGGCCCATACTCCCAGG -3'