|Institutional Source||Beutler Lab|
|Gene Name||adenylate cyclase 8|
|Is this an essential gene?||Probably non essential (E-score: 0.116)|
|Stock #||R7371 (G1)|
|Chromosomal Location||64697084-64922296 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 64699218 bp|
|Amino Acid Change||Histidine to Leucine at position 1222 (H1222L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023007 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000228014]|
|Predicted Effect||probably benign
AA Change: H1222L
PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: H1222L
|Predicted Effect||possibly damaging
AA Change: H1192L
PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adcy8||
(F):5'- TGTGCACTTGATCTTGGATACTC -3'
(R):5'- AACATACTTTCTCCTGGGACG -3'
(F):5'- GCACTTGATCTTGGATACTCAAAGAC -3'
(R):5'- GAGTCCAACCCAACCCATTCATC -3'