|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, subfamily Q, member 3|
|Is this an essential gene?||Probably non essential (E-score: 0.151)|
|Stock #||R0388 (G1)|
|Chromosomal Location||65986387-66286642 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 66000038 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 594 (Y594F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000063380 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070256]|
|Predicted Effect||probably benign
AA Change: Y594F
PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
AA Change: Y594F
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal apamin-insensitive afterhyperpolarization currents in granule cells, but not pyramidal cells, of the hippocampus. Mice homozygous for a knock-in allele exhibit spontaneous seizures and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnq3||
(F):5'- TCTTGGAAGGGGTATCGGTCAAGC -3'
(R):5'- TCACTCCCTCAGACTTCAGAAGATAGC -3'
(F):5'- AGCTGACGCATTAGCTCC -3'
(R):5'- GACTTCAGAAGATAGCAATATCATGC -3'