|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, ionotropic, kainate 3|
|Essential gene?||Probably non essential (E-score: 0.158)|
|Stock #||R0497 (G1)|
|Chromosomal Location||125490700-125714173 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 125623510 bp (GRCm38)|
|Amino Acid Change||Asparagine to Tyrosine at position 49 (N49Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030676 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030676]|
AA Change: N49Y
PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: N49Y
|Meta Mutation Damage Score||0.0901|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. Transcript variants encoding different isoforms have been described for this gene, however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced short- and long-term synaptic potentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grik3||
(F):5'- GAGTGTCTTTCCCGCCAGTGTC -3'
(R):5'- CGCCCACAGAGTGAAGATCTGC -3'
(F):5'- gcaagtgaatcatattttcgtctcc -3'
(R):5'- GTGAAGATCTGCTCACTCACC -3'