|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, subfamily H (eag-related), member 5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0553 (G1)|
|Chromosomal Location||74897220-75177332 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 75137673 bp|
|Amino Acid Change||Cysteine to Phenylalanine at position 92 (C92F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046864 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042299]|
|Predicted Effect||probably benign
AA Change: C92F
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: C92F
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnh5||
(F):5'- TCAATCTAATTTCACCAGCAACCTCTCC -3'
(R):5'- CAGCAGGAAGTTTTAGCAGCAGTGAT -3'
(F):5'- TCTCCCCCAACACCAAGAG -3'
(R):5'- TTAGCAGCAGTGATTAAAACATGGC -3'