|Institutional Source||Beutler Lab|
|Gene Name||A kinase (PRKA) anchor protein 13|
|Synonyms||AKAP-Lbc, 5730522G15Rik, 1700026G02Rik, PROTO-LBC, PROTO-LB, Ht31, 5830460E08Rik|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7116 (G1)|
|Chromosomal Location||75455534-75754609 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75720195 bp (GRCm38)|
|Amino Acid Change||Serine to Threonine at position 129 (S129T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000146401 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000166315] [ENSMUST00000207239] [ENSMUST00000207750]|
|AlphaFold||no structure available at present|
AA Change: S1830T
PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: S1830T
AA Change: S129T
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: S1848T
PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Akap13||
(F):5'- ACCTAGCCGCTTATCTGCAG -3'
(R):5'- TTGGTCATTAAATGTGGCAGAAGC -3'
(F):5'- CTCTTGGTGAGCGCAAAGG -3'
(R):5'- AAGCTAGTGGCCTAGTGCATTAC -3'