|Institutional Source||Beutler Lab|
|Gene Name||potassium voltage-gated channel, subfamily H (eag-related), member 2|
|Synonyms||merg1a, M-erg, Lqt2, ERG1, ether a go-go related, merg1b, LQT|
|Is this an essential gene?||Possibly essential (E-score: 0.610)|
|Stock #||R7061 (G1)|
|Chromosomal Location||24319589-24351604 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 24331922 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 221 (H221Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047705 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036092] [ENSMUST00000115098]|
|AlphaFold||no structure available at present|
AA Change: H221Q
PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: H221Q
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice which maintain expression of the A isoform and lack expression of the B isoform are predisposed to episodic sinus bradycardia. Mice with mutations causing defects in both isoforms are embryonic lethal with defects in cardiac development and function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnh2||
(F):5'- TTACCTGTGCTTGCATGGC -3'
(R):5'- AAGACTTTCCGCCTGAAGC -3'
(F):5'- GCCTCAATGTCATCCGCG -3'
(R):5'- TGAAGCTGCCTGCCTTG -3'