|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 #||R6497 (G1)|
|Chromosomal Location||22622205-22693874 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 22668257 bp|
|Amino Acid Change||Proline to Leucine at position 329 (P329L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028123 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028123]|
|Predicted Effect||probably damaging
AA Change: P329L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: P329L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9383|
|Coding Region Coverage||
|Validation Efficiency||98% (42/43)|
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'- CTCACTAAAAGAAGCCTGGACTTC -3'
(R):5'- TTCCACGAGCTTGATCTAAAACAAC -3'
(F):5'- TGAGGCCACTCTACATACTGAGG -3'
(R):5'- ACAACGTGTAAAGGTGTTTACTGG -3'