|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, subfamily Q, member 4|
|Is this an essential gene?||Possibly non essential (E-score: 0.455)|
|Stock #||R5653 (G1)|
|Chromosomal Location||120696138-120748612 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 120702411 bp|
|Amino Acid Change||Valine to Leucine at position 531 (V531L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030376 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030376]|
|Predicted Effect||probably benign
AA Change: V531L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V531L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either homozygous for a knock-out allele or homozygous for a dominant negative knock-in allele exhibit a slowly progressive hearing loss due to chronic depolarization and subsequent degeneration of cochlear outer hair cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnq4||
(F):5'- GCCTCTGGACATGATGTGTG -3'
(R):5'- AGATCCGTCTTCCCATGAGTC -3'
(F):5'- CAGTGCTGGAAGCCATATGC -3'
(R):5'- TTCCCATGAGTCCCACTAATG -3'