Incidental Mutation 'IGL01671:Gad2'
ID103498
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 #IGL01671
Quality Score
Status
Chromosome2
Chromosomal Location22622205-22693874 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 22623699 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 49 (Y49*)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
Predicted Effect probably null
Transcript: ENSMUST00000028123
AA Change: Y49*
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: Y49*

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156728
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 106,983,245 P529S probably damaging Het
Defb45 T C 2: 152,593,411 K26E probably benign Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Egln1 T C 8: 124,910,715 D399G probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
H2-M1 T C 17: 36,670,438 E235G probably damaging Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Rhcg A C 7: 79,598,551 I435S probably benign Het
Slc9c1 A T 16: 45,560,315 T535S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 probably benign 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
IGL01142:Gad2 APN 2 22681285 splice site probably benign
IGL01577:Gad2 APN 2 22681280 splice site probably benign
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
R7157:Gad2 UTSW 2 22635023 missense probably damaging 0.98
R7352:Gad2 UTSW 2 22623823 missense probably benign 0.00
X0019:Gad2 UTSW 2 22690172 critical splice acceptor site probably null
Posted On2014-01-21