|Institutional Source||Beutler Lab|
|Gene Name||discs large MAGUK scaffold protein 2|
|Synonyms||Dlgh2, A330103J02Rik, Chapsyn-110, PSD93, B330007M19Rik, LOC382816, B230218P12Rik|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R9751 (G1)|
|Chromosomal Location||90476672-92449247 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 90915523 bp (GRCm38)|
|Amino Acid Change||Histidine to Asparagine at position 116 (H116N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000155862 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000231777]|
AA Change: H116N
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display lower surface expression of NMDA receptor (NMDAR) subunits NR2A and NR2B in dorsal horn neurons and significantly reduced NMDAR-mediated excitatory synaptic currents and NMDAR-dependent persistent inflammatory or nerve injury-induced neuropathic pain. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlg2||
(F):5'- AGATGTCGTTTTCTGTAAGACTGC -3'
(R):5'- AGATTCCCTAATCGTGGTGAC -3'
(F):5'- CTGTAAGACTGCACTAAAAATTAGCC -3'
(R):5'- CGTGGTGACTTTATAATATACTGCTG -3'