|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, subfamily H (eag-related), member 3|
|Synonyms||Elk2, Melk2, C030044P22Rik, ether a go-go like|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4991 (G1)|
|Chromosomal Location||99224861-99242817 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 99232756 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 418 (D418G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040548 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041415]|
|Predicted Effect||probably benign
AA Change: D418G
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: D418G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1708|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. An increase in cognitive function was observed when this gene was knocked out, while deletion of the gene resulted in hippocampal hyperexcitability and epilepsy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal long term object recognition memory, spatial reference memory, spatial working memory, and long term potentiation. Mice homozygous for a different knock-out allele exhibit neuron hyperexcitability and seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnh3||
(F):5'- ATCTGGCTGTGGAGCTTGAC -3'
(R):5'- ACACTGGTGAGACTGCTGAG -3'
(F):5'- TCTTGCTGAGAGGTGAAGGGAC -3'
(R):5'- ACTGCTGAGCGCGAAGTAC -3'