Incidental Mutation 'IGL02346:Gad2'
ID289301
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 #IGL02346
Quality Score
Status
Chromosome2
Chromosomal Location22622205-22693874 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 22629939 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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,238,699 I1948F probably damaging Het
Adgre1 T C 17: 57,443,919 V531A probably benign Het
Ano3 A T 2: 110,770,926 probably benign Het
Api5 A T 2: 94,427,530 F125I possibly damaging Het
Arhgap21 A G 2: 20,879,951 probably benign Het
Atp13a5 T A 16: 29,327,736 K247* probably null Het
Ccdc58 T C 16: 36,091,835 V87A probably damaging Het
Col9a1 C T 1: 24,223,609 A585V probably damaging Het
Eef1akmt3 A G 10: 127,032,936 V223A probably benign Het
Eml1 T C 12: 108,537,441 S766P possibly damaging Het
Fam13b G T 18: 34,462,105 A402E probably benign Het
Gbf1 A G 19: 46,285,930 E1859G probably damaging Het
Gli3 T G 13: 15,723,693 V786G probably damaging Het
Gm5592 A G 7: 41,289,465 S724G probably damaging Het
Hgs A G 11: 120,482,551 Y634C probably damaging Het
Hoxa3 T A 6: 52,170,599 probably benign Het
Id4 C A 13: 48,261,713 Y72* probably null Het
Il5ra T A 6: 106,742,658 E71D probably benign Het
Kcnh4 G A 11: 100,756,942 T168M possibly damaging Het
Kdm3b A T 18: 34,834,238 I1699L probably damaging Het
Madd A G 2: 91,162,491 Y1048H probably damaging Het
Nr2f1 C A 13: 78,195,408 V246L probably damaging Het
Oas2 A T 5: 120,736,088 I560N probably benign Het
Olfr24 T C 9: 18,754,769 I289V probably damaging Het
Olfr27 T C 9: 39,144,643 L181P probably damaging Het
Olfr346 A T 2: 36,688,004 M1L probably benign Het
Pclo A G 5: 14,677,538 probably benign Het
Pdss2 T C 10: 43,345,643 F184L possibly damaging Het
Prpf39 C T 12: 65,057,736 T525I probably benign Het
Ralgps1 A T 2: 33,157,770 probably null Het
Rasal3 A G 17: 32,399,349 W161R probably damaging Het
Sema5b T A 16: 35,649,755 V329D probably damaging Het
Serpinb9g A T 13: 33,486,531 M1L probably benign Het
Sptb C T 12: 76,621,014 D770N probably damaging Het
Tdp2 T C 13: 24,841,352 V368A possibly damaging Het
Uggt1 A G 1: 36,179,670 S59P probably benign Het
Vmn2r9 T A 5: 108,842,984 N837I probably benign Het
Vmn2r-ps130 T C 17: 23,061,527 V54A possibly damaging Het
Wdr7 A T 18: 63,865,336 E1118V probably benign Het
Wwox A G 8: 114,712,118 H308R probably benign Het
Zbtb41 C A 1: 139,447,100 P766Q 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
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
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
R7951:Gad2 UTSW 2 22623487 missense probably damaging 0.96
R8285:Gad2 UTSW 2 22624928 missense probably benign 0.45
X0019:Gad2 UTSW 2 22690172 critical splice acceptor site probably null
Z1177:Gad2 UTSW 2 22635014 missense probably benign 0.00
Posted On2015-04-16