|Institutional Source||Beutler Lab|
|Gene Name||potassium channel, subfamily V, member 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0319 (G1)|
|Chromosomal Location||27322588-27337179 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 27324024 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 425 (Y425F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055091 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000056708]|
|Predicted Effect||probably benign
AA Change: Y425F
PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: Y425F
|Meta Mutation Damage Score||0.1735|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
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 member is identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are viable, fertile, and phenotypically normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnv2||
(F):5'- TCTTTCGGGACATGCGCTTCTATG -3'
(R):5'- TGCAGAAACCCAAGTGCCATGTTAC -3'
(F):5'- TCAACCTAGTGGACCTGGTG -3'
(R):5'- AAGTGCCATGTTACTCACCG -3'