|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, ionotropic, AMPA4 (alpha 4)|
|Synonyms||Gluralpha4, spkw1, Glur4, Glur-4|
|Is this an essential gene?||Possibly essential (E-score: 0.625)|
|Stock #||PIT4812001 (G1)|
|Chromosomal Location||4417896-4796234 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 4427128 bp (GRCm38)|
|Amino Acid Change||Alanine to Serine at position 771 (A771S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066980 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000212533]|
AA Change: A771S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A771S
|Coding Region Coverage||
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gria4||
(F):5'- TAAGTTAGGTAATGGCTAGGTAGAC -3'
(R):5'- GCAAGCCCCAGTTTTATGTCTG -3'
(F):5'- TGGCTAGGTAGACAGAAAAGTTC -3'
(R):5'- GTCTGATTCTAAACCTGAGCCTACAG -3'