|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily K, member 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5208 (G1)|
|Chromosomal Location||6925710-6934515 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 6927701 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 194 (Y194F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025908 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025908] [ENSMUST00000057716]|
|Predicted Effect||possibly damaging
AA Change: Y194F
PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: Y194F
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit normal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnk4||
(F):5'- TGCCTGCTAGAAGAAAGTATGG -3'
(R):5'- CACACTATGCCAGAATGGGG -3'
(F):5'- CCTGCTAGAAGAAAGTATGGTGTTCC -3'
(R):5'- CACTATGCCAGAATGGGGGTAGG -3'