Incidental Mutation 'IGL01142:Gad2'
ID50621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gad2
Ensembl Gene ENSMUSG00000026787
Gene Nameglutamic acid decarboxylase 2
SynonymsGad-2, 6330404F12Rik, GAD(65), GAD65
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01142
Quality Score
Status
Chromosome2
Chromosomal Location22622205-22693874 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 22681285 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
Predicted Effect probably benign
Transcript: ENSMUST00000028123
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 C T 2: 19,297,898 probably benign Het
Cacnb3 T A 15: 98,642,002 L269* probably null Het
Calu T C 6: 29,366,208 probably null Het
Cep97 A G 16: 55,922,198 S129P probably damaging Het
Cpt1b T C 15: 89,418,993 M620V probably benign Het
Dnah7b T C 1: 46,195,378 probably null Het
Evi5 T C 5: 107,815,611 K410R probably benign Het
Helb A T 10: 120,111,144 V88D probably damaging Het
Hexim2 A G 11: 103,134,134 E19G probably benign Het
Klhl25 T C 7: 75,866,596 Y112H probably damaging Het
Lin52 T C 12: 84,456,235 probably benign Het
Ms4a4c A G 19: 11,426,250 T157A probably benign Het
Olfr1120 T C 2: 87,357,545 F34L possibly damaging Het
Olfr829 A G 9: 18,857,534 N303S probably damaging Het
Plxnb1 A G 9: 109,102,697 T472A probably benign Het
Sez6 T G 11: 77,973,816 V534G probably damaging Het
Sim1 C A 10: 50,910,671 T333K probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem115 A G 9: 107,534,645 N56S possibly damaging Het
Ubac1 T C 2: 26,006,568 I150V probably damaging Het
Vps13a T C 19: 16,687,115 K1455E possibly damaging Het
Yrdc T C 4: 124,853,994 F97L probably damaging Het
Other mutations in Gad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Gad2 APN 2 22685386 missense probably benign 0.07
IGL00870:Gad2 APN 2 22629971 missense probably benign 0.42
IGL01577:Gad2 APN 2 22681280 splice site probably benign
IGL01671:Gad2 APN 2 22623699 nonsense probably null
IGL02346:Gad2 APN 2 22629939 splice site probably benign
IGL02348:Gad2 APN 2 22629393 missense probably damaging 1.00
IGL03113:Gad2 APN 2 22681355 missense probably benign 0.09
gruene UTSW 2 22685067 critical splice donor site probably null
mosey UTSW 2 22668257 missense probably damaging 1.00
R0630:Gad2 UTSW 2 22690336 missense probably benign 0.14
R1109:Gad2 UTSW 2 22681394 missense probably damaging 1.00
R1109:Gad2 UTSW 2 22690159 splice site probably benign
R1122:Gad2 UTSW 2 22623451 missense possibly damaging 0.68
R1604:Gad2 UTSW 2 22623840 critical splice donor site probably null
R1773:Gad2 UTSW 2 22690207 missense probably benign
R1895:Gad2 UTSW 2 22685428 missense probably benign
R1946:Gad2 UTSW 2 22685428 missense probably benign
R2329:Gad2 UTSW 2 22668289 missense probably damaging 1.00
R2857:Gad2 UTSW 2 22673975 missense probably benign 0.02
R3754:Gad2 UTSW 2 22681340 missense possibly damaging 0.91
R3847:Gad2 UTSW 2 22684988 missense probably benign 0.00
R4382:Gad2 UTSW 2 22685410 missense probably benign
R4383:Gad2 UTSW 2 22685410 missense probably benign
R4384:Gad2 UTSW 2 22685410 missense probably benign
R4651:Gad2 UTSW 2 22668362 missense probably damaging 1.00
R4700:Gad2 UTSW 2 22673970 missense probably damaging 1.00
R4766:Gad2 UTSW 2 22622667 missense probably damaging 0.99
R5279:Gad2 UTSW 2 22673957 missense probably benign 0.38
R5372:Gad2 UTSW 2 22690243 missense possibly damaging 0.84
R5505:Gad2 UTSW 2 22624833 missense probably benign
R5820:Gad2 UTSW 2 22690249 missense probably benign 0.00
R5868:Gad2 UTSW 2 22685067 critical splice donor site probably null
R6026:Gad2 UTSW 2 22623736 missense probably benign 0.00
R6497:Gad2 UTSW 2 22668257 missense probably damaging 1.00
R6675:Gad2 UTSW 2 22673985 missense possibly damaging 0.67
X0019:Gad2 UTSW 2 22690172 critical splice acceptor site probably null
Posted On2013-06-21