|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, shaker-related subfamily, member 3|
|Synonyms||Kv1.3, Mk-3, Kca1-3|
|Is this an essential gene?||Possibly non essential (E-score: 0.451)|
|Stock #||R8676 (G1)|
|Chromosomal Location||107036169-107038070 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 107036592 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Glycine at position 57 (E57G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050680 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052718]|
AA Change: E57G
PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
AA Change: E57G
|Coding Region Coverage||
|Validation Efficiency||93% (54/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcna3||
(F):5'- CGGCGATCCAGTGACAAAG -3'
(R):5'- CCCGGACTGGTAGTAGTAGAGG -3'
(F):5'- AGCTGCCGCCAGACATGAC -3'
(R):5'- GGATGGCGTCGAAGCTG -3'