|Institutional Source||Beutler Lab|
|Gene Name||adenylate cyclase 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1473 (G1)|
|Chromosomal Location||98589973-98610076 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 98592743 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Phenylalanine at position 1102 (Y1102F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000154421 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023728] [ENSMUST00000096224] [ENSMUST00000228566] [ENSMUST00000228903]|
|AlphaFold||no structure available at present|
AA Change: Y1104F
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: Y1104F
AA Change: Y1102F
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|Meta Mutation Damage Score||0.4569|
|Coding Region Coverage||
|Validation Efficiency||98% (88/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle. Mice homozygous for a conditional allele activated in collecting ducts exhibit decreased urine osmilality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adcy6||
(F):5'- TGCTGCACTCTGCTAACTGCTG -3'
(R):5'- ATGCCGAAGGAATCATTGTCCCC -3'
(F):5'- ACCTGGTATAGGTCCGTAGTCAC -3'
(R):5'- CCCCTTTGATATTTTTTTCCTTTGG -3'