|Institutional Source||Beutler Lab|
|Gene Name||A kinase (PRKA) anchor protein 6|
|Is this an essential gene?||Possibly essential (E-score: 0.730)|
|Stock #||R4095 (G1)|
|Chromosomal Location||52699383-53155599 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 53139462 bp|
|Amino Acid Change||Isoleucine to Leucine at position 1220 (I1220L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093406 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095737] [ENSMUST00000219786]|
|Predicted Effect||probably damaging
AA Change: I1220L
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: I1220L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||97% (59/61)|
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 highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akap6||
(F):5'- TGCTGGTACCTTCCAATCTG -3'
(R):5'- CACTTGGTAAATGTGTGGGC -3'
(F):5'- TGTGTTCTAACTTCCAAGAGGTC -3'
(R):5'- CTGGAAGGGGCAGTGATATTTGAG -3'