|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, Shal-related family, member 2|
|Is this an essential gene?||Probably non essential (E-score: 0.154)|
|Stock #||R0062 (G1)|
|Chromosomal Location||21215503-21729805 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 21727226 bp|
|Amino Acid Change||Valine to Methionine at position 593 (V593M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080257 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081542]|
|Predicted Effect||possibly damaging
AA Change: V593M
PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: V593M
|Meta Mutation Damage Score||0.0708|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) 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, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnd2||
(F):5'- ATGCTGAAGCCTCTCAAAGCCTC -3'
(R):5'- GGCTCAAATTCTCTCAGACCTGCG -3'
(F):5'- AGTGGCTTCAAATATGGTATCGC -3'
(R):5'- TTACAAGGCAGACACCCTGA -3'