|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily K, member 9|
|Is this an essential gene?||Possibly non essential (E-score: 0.263)|
|Stock #||R0412 (G1)|
|Chromosomal Location||72501089-72546340 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 72513056 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000038729 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044624]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel mental retardation dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased pH sensitive action potential in serotonergic neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnk9||
(F):5'- TTTCAGCAGGTAGCGCACGAAG -3'
(R):5'- TAGGGAAGTGACTCCAGCGTCAAG -3'
(F):5'- TAGCGCACGAAGGTGTTC -3'
(R):5'- ggaggtggaggtagggg -3'