Grid2 - SNV Details



 Gene Information 
Gene Name Grid2
Old Gene Names for Grid2 B230104l07rik
Gene Description glutamate receptor, ionotropic, delta 2 [Source:MGI Symbol;Acc:MGI:95813]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
postsynaptic membrane; synaptic transmission
glutamatergic; membrane; extracellular-glutamate-gated ion channel activity; regulation of excitatory postsynaptic membrane potential; transporter activity; ionotropic glutamate receptor complex; outer membrane-bounded periplasmic space; protein binding; synapse; cell junction; scaffold protein binding; PDZ domain binding; transport; dendritic spine; ionotropic glutamate receptor activity; plasma membrane; cellular protein localization; regulation of neuron apoptotic process; postsynaptic density; prepulse inhibition
Homolog in other species GRID2
Omim http://omim.org/entry/602368
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
MEDIAN
MEDIAN
MEDIAN(HIGH IN CEREBELLUM)
MEDIAN(HIGH IN CEREBELLUM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000071424
Chromosome 6
Coordinate 64,320,196     (Assembly: GRCm38)    
Ref Base T
Codon Change ttT/ttA
Var Base A
Zygosity Heterozygous
Read Depth 31
Allele Frequency
T:R0.55
A:V0.45
Amino Acid Position 514
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL01686
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.08
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000093536:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ionotropic glutamate receptor Iontro_glu_rcpt IPR001320 ENSMUSP00000093536 Smart 442
807 Description available Search pathways
Extracellular solute-binding protein, family 3 SBP_bac_3 IPR001638 ENSMUSP00000093536 Pfam 449
805 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved