|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage gated channel, Shaw-related subfamily, member 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6511 (G1)|
|Chromosomal Location||112271121-112467024 bp(+) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||C to T at 112462067 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000151870 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092175] [ENSMUST00000218445] [ENSMUST00000218827] [ENSMUST00000219301] [ENSMUST00000219607]|
AA Change: T632I
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired fast spiking in cortical interneurons, distorted cortical rhythmic activity, enhanced susceptibility to seizures, increased anxiety in the open field, and abnormal sleep patterns. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnc2||
(F):5'- AGCCTGTTCTAAAGTTGCTATGG -3'
(R):5'- TTCAGCAGAATGTTAGAGGCAG -3'
(F):5'- TGATGTATAACTGTCTTGGCCTC -3'
(R):5'- TGTTAGAGGCAGTAGAAAGAGCTG -3'