|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, ionotropic, kainate 5 (gamma 2)|
|Essential gene?||Probably non essential (E-score: 0.226)|
|Stock #||R8879 (G1)|
|Chromosomal Location||25009849-25072346 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 25023064 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Valine at position 540 (D540V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003468 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003468] [ENSMUST00000205328] [ENSMUST00000206134]|
AA Change: D540V
PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: D540V
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grik5||
(F):5'- GCAGTGTTCAGCCAACAGAAG -3'
(R):5'- ACATGGTATGTCTCCCTGGG -3'
(F):5'- TGTTCAGCCAACAGAAGAGGGAC -3'
(R):5'- AGTGGCTGTGACCTAGCACAG -3'