|Institutional Source||Beutler Lab|
|Gene Name||A kinase (PRKA) anchor protein 10|
|Synonyms||B130049N18Rik, 1500031L16Rik, D-AKAP2|
|Is this an essential gene?||Probably essential (E-score: 0.790)|
|Stock #||R6753 (G1)|
|Chromosomal Location||61871307-61930252 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 61886777 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 586 (M586K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099710 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058173] [ENSMUST00000102650] [ENSMUST00000108710]|
AA Change: M586K
PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: M586K
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. It has been reported that this protein is important for maintaining heart rate and myocardial contractility through its targeting of protein kinase A. In mouse, defects of this gene lead to cardiac arrhythmias and premature death. In humans, polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele display sinus arrhythmia, sinus pauses, and atrioventricular heart block indicating excessive vagus nerve sensitivity; about 50% of homozygous and 25% of heterozygous mutant mice die in the first year of life, and survival is sensitive to genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akap10||
(F):5'- GGTAGTTACAGCCACTTTAAACC -3'
(R):5'- AACTACACTTTCATTCTGGACTTGC -3'
(F):5'- AGCCACTTTAAACCTTAAATAGTCC -3'
(R):5'- CACCTAGTGTTATGTTTCATAAGCC -3'