|Institutional Source||Beutler Lab|
|Gene Name||potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3|
|Synonyms||small conductance calcium-activated potassium channel 3, SK3|
|Is this an essential gene?||Possibly non essential (E-score: 0.396)|
|Stock #||R4822 (G1)|
|Chromosomal Location||89520164-89675132 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 89667289 bp|
|Amino Acid Change||Valine to Leucine at position 703 (V703L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000811 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000811]|
|Predicted Effect||possibly damaging
AA Change: V703L
PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: V703L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.186|
|Coding Region Coverage||
|Validation Efficiency||98% (101/103)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an insertion of a tetracycline-regulated gene switch display no overt phenotype when expression is abolished by doxycycline treatment; in contrast, untreated homozygotes show abnormal respiratory responses to hypoxia, impaired parturition, and pregnancy-related premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kcnn3||
(F):5'- GCTCAATGACCGGAGTGAAG -3'
(R):5'- TGAGTCAGCTCATCCGTTCC -3'
(F):5'- CTCAATGACCGGAGTGAAGATCTAG -3'
(R):5'- GTCTGCAACTTCCTTGACAGCAAAG -3'