|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, ionotropic, delta 1|
|Is this an essential gene?||Probably non essential (E-score: 0.069)|
|Stock #||R2415 (G1)|
|Chromosomal Location||34820108-35583379 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35450369 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 611 (I611F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044009 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043349]|
|Predicted Effect||possibly damaging
AA Change: I611F
PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: I611F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1730|
|Coding Region Coverage||
|Validation Efficiency||100% (37/37)|
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'- GCGCTACATGGACTACTCAGTG -3'
(R):5'- AAACAGAGTGCAGCACTGTCC -3'
(F):5'- TACTCAGTGGGGATCCTCATCAAG -3'
(R):5'- AGTGCAGCACTGTCCTGAGATC -3'