|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily K, member 10|
|Is this an essential gene?||Probably non essential (E-score: 0.075)|
|Stock #||R1398 (G1)|
|Chromosomal Location||98429437-98578310 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 98436226 bp|
|Amino Acid Change||Tryptophan to Leucine at position 318 (W318L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152473 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110113] [ENSMUST00000221240]|
|Predicted Effect||possibly damaging
AA Change: W304L
PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: W304L
|Predicted Effect||probably damaging
AA Change: W318L
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|Meta Mutation Damage Score||0.2906|
|Coding Region Coverage||
|Validation Efficiency||96% (75/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnk10||
(F):5'- AGCGTGACCATAAAGTCAACGCTC -3'
(R):5'- TCTGCCGAAGACCTACTACTGACC -3'
(F):5'- agaaaaaaaaaaagtcctgtgcc -3'
(R):5'- GACCATGCTAAGGTCCCATTTG -3'