Incidental Mutation 'IGL00870:Gad2'
ID10888
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 #IGL00870
Quality Score
Status
Chromosome2
Chromosomal Location22622205-22693874 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 22629971 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 212 (V212A)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
Predicted Effect probably benign
Transcript: ENSMUST00000028123
AA Change: V212A

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: V212A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,013,698 D4115E probably damaging Het
Asb5 T C 8: 54,583,660 probably null Het
Cpeb3 A T 19: 37,054,295 I569N probably damaging Het
Cpsf7 T C 19: 10,539,650 probably null Het
Dlat A G 9: 50,650,869 L285P probably damaging Het
Dytn T C 1: 63,677,113 probably benign Het
Ears2 A T 7: 122,055,676 L123Q probably damaging Het
Gon4l T C 3: 88,857,185 Y358H probably damaging Het
Gys1 T C 7: 45,448,013 probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Krtap20-2 G A 16: 89,205,987 G25D unknown Het
Lrif1 T C 3: 106,734,641 probably null Het
Naip2 A G 13: 100,152,060 probably benign Het
Olfr884 A T 9: 38,047,740 I173F probably damaging Het
Oxct1 T A 15: 4,101,818 L396Q probably damaging Het
Pclo A T 5: 14,539,983 R766W unknown Het
Pkhd1 T A 1: 20,571,390 I275F probably damaging Het
Rxfp3 A G 15: 11,036,215 F357S probably damaging Het
Rxfp3 A G 15: 11,036,305 V327A probably damaging Het
Serpinb2 A G 1: 107,523,070 I181V probably damaging Het
Smad5 A G 13: 56,723,667 D25G probably benign Het
Strada A G 11: 106,171,257 L82P probably damaging Het
Tek T A 4: 94,873,081 Y1079* probably null Het
Tenm3 T C 8: 48,417,132 T209A probably benign Het
Tnks1bp1 C T 2: 85,062,236 Q836* probably null Het
Toporsl T C 4: 52,610,172 S22P probably benign Het
Ttc17 T C 2: 94,371,733 probably null Het
Ttc39a A G 4: 109,442,345 probably benign Het
Vangl1 T C 3: 102,189,440 D60G probably damaging Het
Vmn1r13 A T 6: 57,210,113 M86L probably benign Het
Vmn1r220 C T 13: 23,184,477 M16I probably null Het
Other mutations in Gad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Gad2 APN 2 22685386 missense probably benign 0.07
IGL01142:Gad2 APN 2 22681285 splice site probably benign
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 On2012-12-06