|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily K, member 5|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R6877 (G1)|
|Chromosomal Location||20140057-20181809 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 20144716 bp|
|Amino Acid Change||Threonine to Alanine at position 185 (T185A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024011 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024011]|
|Predicted Effect||possibly damaging
AA Change: T185A
PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: T185A
|Coding Region Coverage||
|Validation Efficiency||94% (47/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are smaller than normal and display varying amounts of prenatal lethality depending on genetic background. Otherwise, the mice are viable and fertile. Other targeted mice display aberrations in respiratory physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnk5||
(F):5'- GACTAACATCTATCAGGTGCCC -3'
(R):5'- TGAGCCTGGTATGTTCCTAAC -3'
(F):5'- TATCAGGTGCCCAACAAAGGTCTG -3'
(R):5'- GAGCCTGGTATGTTCCTAACCTTAG -3'