|Institutional Source||Beutler Lab|
|Gene Name||adenylate cyclase 5|
|Is this an essential gene?||Probably non essential (E-score: 0.225)|
|Stock #||R1721 (G1)|
|Chromosomal Location||35154877-35305738 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 35298424 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 1048 (D1048E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110563 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114913]|
|Predicted Effect||probably damaging
AA Change: D1048E
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: D1048E
|Meta Mutation Damage Score||0.202|
|Coding Region Coverage||
|Validation Efficiency||99% (87/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted inactivation of this gene has been shown to result in motor dysfunction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adcy5||
(F):5'- AGTTCATCTAGGGGAGACCTGCAC -3'
(R):5'- ATCTCATTGAGCAGCCGTAGGCAC -3'
(F):5'- GCAATGGGATTGTCACCCAC -3'
(R):5'- AGCCGTAGGCACTCGAC -3'