|Institutional Source||Beutler Lab|
|Gene Name||A kinase (PRKA) anchor protein 11|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7503 (G1)|
|Chromosomal Location||78492246-78536808 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 78512001 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 982 (D982G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022593 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022593] [ENSMUST00000123853]|
AA Change: D982G
AA Change: D982G
|Meta Mutation Damage Score||0.0604|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
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 at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a reduction in body size, body length and tibia length, hypoactivity, slow movement and increased anxiety-related responses, and exhibit actin barrier defects in kidney collecting duct cells and increased urine osmolality in response to overhydration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akap11||
(F):5'- GAGCTTTCCTGTCCAAAAGGC -3'
(R):5'- GCTAGCAGTAAGGACATGTTTGC -3'
(F):5'- CTTTCCTGTCCAAAAGGCATGGG -3'
(R):5'- CAGTAAGGACATGTTTGCTGAGC -3'