|Institutional Source||Beutler Lab|
|Gene Name||A kinase (PRKA) anchor protein (gravin) 12|
|Synonyms||SSeCKS, Tsga12, Srcs5|
|Is this an essential gene?||Probably non essential (E-score: 0.161)|
|Stock #||R1338 (G1)|
|Chromosomal Location||4266380-4359470 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 4313773 bp|
|Amino Acid Change||Valine to Phenylalanine at position 61 (V61F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035829 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045730]|
|Predicted Effect||possibly damaging
AA Change: V61F
PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: V61F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akap12||
(F):5'- TGCACACACTGCACATGCAAGG -3'
(R):5'- TGTGACAACCCAGTTCACTGCAAG -3'
(F):5'- ATCTTCAGGTTccccgcc -3'
(R):5'- TGCAAGTGCAGTCTACCC -3'