|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, ionotropic, delta 1|
|Is this an essential gene?||Probably non essential (E-score: 0.097)|
|Stock #||R4794 (G1)|
|Chromosomal Location||34820108-35583379 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 34822622 bp|
|Amino Acid Change||Leucine to Proline at position 50 (L50P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044009 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043349]|
|Predicted Effect||probably damaging
AA Change: L50P
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: L50P
|Meta Mutation Damage Score||0.1335|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
PHENOTYPE: Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grid1||
(F):5'- CAAAGTCTAGCTCAGTCCTCCC -3'
(R):5'- CATAGCAGCCAAGTAAGTGCC -3'
(F):5'- AGTCCTCCCACCACGTG -3'
(R):5'- AGGCTCTGTACAACGGATTG -3'