|Institutional Source||Beutler Lab|
|Gene Name||CAP, adenylate cyclase-associated protein, 2 (yeast)|
|Is this an essential gene?||Probably non essential (E-score: 0.109)|
|Stock #||R8205 (G1)|
|Chromosomal Location||46501848-46650281 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 46615263 bp (GRCm38)|
|Amino Acid Change||Valine to Methionine at position 182 (V182M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021802 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341]|
AA Change: V182M
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V182M
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are smaller, prone to eye infections and show microphthalmia, cardiac conduction defects and dilated cardiomyopathy, predominantly in males. Males are underrepresented at weaning and ~70% die suddenly by 12 weeks of age, whereas females survive at nearly expected levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cap2||
(F):5'- CACCATCACTAGGTATGGCAC -3'
(R):5'- TTTCTATGGCCACCCGGGATAC -3'
(F):5'- GTCTGTCTAGACCCAAAGTTGG -3'
(R):5'- GGGATACACATCTTCACAAGTGTC -3'