|Institutional Source||Beutler Lab|
|Gene Name||glutamate receptor, ionotropic, delta 2|
|Synonyms||GluRdelta2, tpr, B230104L07Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1524 (G1)|
|Chromosomal Location||63255876-64704323 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 64429754 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 699 (F699L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093536 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095852]|
|Predicted Effect||possibly damaging
AA Change: F699L
PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: F699L
|Meta Mutation Damage Score||0.054|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for multiple spontaneous and targeted null mutations exhibit ataxia and impaired locomotion associated with cerebellar Purkinje cell abnormalities and loss, and on some backgrounds, male infertility due to lack of zona penetration by sperm. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Grid2||
(F):5'- AGAACTTAGAGGCAGTCCTCCTTAGC -3'
(R):5'- CACAAGGGACCTGGAGTTTCCTTTATG -3'
(F):5'- GGTATCTAGCTTTGGATAAATAGCCC -3'
(R):5'- AATGCTGAGTTGTTCAGAGACC -3'