|Institutional Source||Beutler Lab|
|Gene Name||adenosine A2b receptor|
|Synonyms||AA2BR, A2BR, A2BAR, A2b, A2b, Rs|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5681 (G1)|
|Chromosomal Location||62248984-62266453 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 62249241 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 47 (V47E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018644 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018644]|
|Predicted Effect||probably damaging
AA Change: V47E
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: V47E
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in low-grade inflammation, augmentation of proinflammatory cytokines and increased leukocyte adhesion to the vasculature. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adora2b||
(F):5'- AGCTTCGAGGTGTCTTTCC -3'
(R):5'- AGATATCGGTCGACAGCCAC -3'
(F):5'- ACCCTAGCAGCTGTCCTGAG -3'
(R):5'- CAGCCACCGCCAAGAGG -3'