|Institutional Source||Beutler Lab|
|Gene Name||potassium large conductance calcium-activated channel, subfamily M, beta member 3|
|Is this an essential gene?||Probably non essential (E-score: 0.079)|
|Stock #||R8276 (G1)|
|Chromosomal Location||32471588-32492231 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 32482423 bp|
|Amino Acid Change||Leucine to Proline at position 52 (L52P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130177 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000164954]|
|Predicted Effect||probably damaging
AA Change: L52P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L52P
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnmb3||
(F):5'- GGAGCAGAGGACTATTTCACAC -3'
(R):5'- TCTCAGTGAACCAGACTCAGG -3'
(F):5'- TGTCTCCAGCACGAACAGG -3'
(R):5'- GACTCAGGTTTGCCATGAGCTAAAC -3'