|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, metabotropic 1|
|Synonyms||Grm1, Gprc1a, mGluR1, nmf373, rcw, 4930455H15Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.305)|
|Stock #||R2092 (G1)|
|Chromosomal Location||10686059-11082356 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 10689225 bp (GRCm38)|
|Amino Acid Change||Leucine to Proline at position 1113 (L1113P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037255 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044306] [ENSMUST00000105560] [ENSMUST00000105561]|
AA Change: L1113P
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: L1113P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for null mutations show impairements in motor coordination, spatial learning, hippocampal mossy fiber long-term potentiation, and cerebellar long-term depression. Homozygotes for a spontaneous mutation are small and exhibit ataxia, kyphoscoliosis, albuminuria and glomerular damage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grm1||
(F):5'- GCATAGGTCACATTTGGAGGGG -3'
(R):5'- TGGGATTCCAGACTTCCACG -3'
(F):5'- CTGACTCAGACACTGGGGAACTG -3'
(R):5'- ATTCCAGACTTCCACGCGGTG -3'