|Institutional Source||Beutler Lab|
|Gene Name||adenylate cyclase 5|
|Is this an essential gene?||Possibly non essential (E-score: 0.282)|
|Stock #||R7242 (G1)|
|Chromosomal Location||35154877-35305738 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 35156835 bp|
|Amino Acid Change||Leucine to Proline at position 246 (L246P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110563 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000114913]|
|Predicted Effect||probably damaging
AA Change: L246P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L246P
|Meta Mutation Damage Score||0.9155|
|Coding Region Coverage||
|Validation Efficiency||100% (73/73)|
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'- GCTTCAGCTTCCGCTCTAAG -3'
(R):5'- GATGAAGAACACGGTCCACC -3'
(F):5'- ACTGGCATCGTCGAGGATG -3'
(R):5'- TGAAGAACACGGTCCACCAGATG -3'