|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily K, member 18|
|Synonyms||LOC332396, Tresk, Tresk-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4478 (G1)|
|Chromosomal Location||59219648-59237370 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 59235244 bp|
|Amino Acid Change||Serine to Proline at position 274 (S274P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065713 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065204]|
|Predicted Effect||probably damaging
AA Change: S274P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S274P
|Meta Mutation Damage Score||0.2173|
|Coding Region Coverage||
|Validation Efficiency||94% (46/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains and the encoded protein functions as an outward rectifying potassium channel. A mutation in this gene has been found to be associated with migraine with aura.[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit altered potassium conductance and neuron electrophysiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnk18||
(F):5'- GGATGAACTCCTAAACCCGC -3'
(R):5'- TGCCCACGATGATGTAGATG -3'
(F):5'- GCAGCCCAGCAAGGACC -3'
(R):5'- TGGTGGTCAGTGTCACAAAGC -3'