|Institutional Source||Beutler Lab|
|Gene Name||glutamic acid decarboxylase 2|
|Synonyms||Gad-2, 6330404F12Rik, GAD(65), GAD65|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5372 (G1)|
|Chromosomal Location||22622205-22693874 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 22690243 bp|
|Amino Acid Change||Aspartic acid to Valine at position 552 (D552V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028123 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028123]|
|Predicted Effect||possibly damaging
AA Change: D552V
PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: D552V
|Meta Mutation Damage Score||0.4427|
|Coding Region Coverage||
|Validation Efficiency||96% (89/93)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantibody and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit spontaneous (frequently fatal) seizures, increased anxiety-like behavior, and reduced intermale aggression. Heterozygotes show reduced aggressiveness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gad2||
(F):5'- TTGCTATGGGATGCACTGC -3'
(R):5'- TACTCTACTGTGACACCACGATATAG -3'
(F):5'- TGCACTGCATAACATACAAACATTG -3'
(R):5'- CTGTGACACCACGATATAGAAATAG -3'