|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily V, member 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0534 (G1)|
|Chromosomal Location||45106284-45114920 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45109249 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 413 (F413L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022967 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022967]|
|Predicted Effect||probably damaging
AA Change: F413L
PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: F413L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0952|
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
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. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]
PHENOTYPE: At weaning, homozygous mutant mice exhibit tetany, tremors and ataxia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnv1||
(F):5'- ATCGAAGCATCTCCATTATGCTCCG -3'
(R):5'- GAAGAAGTTGGCCTACTGCTCCTG -3'
(F):5'- ATGCTCCGGGCATAGACATC -3'
(R):5'- ACTGCTCCTGTTTCTATCTGTG -3'