|Institutional Source||Beutler Lab|
|Gene Name||CAP, adenylate cyclase-associated protein, 2 (yeast)|
|Is this an essential gene?||Probably non essential (E-score: 0.074)|
|Stock #||R1668 (G1)|
|Chromosomal Location||46501848-46650281 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 46615323 bp (GRCm38)|
|Amino Acid Change||Histidine to Asparagine at position 147 (H147N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000153125 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021802] [ENSMUST00000119341] [ENSMUST00000225824]|
AA Change: H202N
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
AA Change: H202N
AA Change: H147N
PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|Coding Region Coverage||
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'- TCACTAGGTATGGCACACTCCCTC -3'
(R):5'- GGCGGTCAACAGAGTCTCCTAAAG -3'
(F):5'- AGGGTTACCCACATTCTCAGTG -3'
(R):5'- TCCTAAAGGAAAGGCTGTTTCCAC -3'