Incidental Mutation 'IGL02348:Gad2'
ID289360
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 #IGL02348
Quality Score
Status
Chromosome2
Chromosomal Location22622205-22693874 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22629393 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 175 (H175Y)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
Predicted Effect probably damaging
Transcript: ENSMUST00000028123
AA Change: H175Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: H175Y

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,493,296 I298V possibly damaging Het
Akap12 G A 10: 4,354,722 D511N probably damaging Het
Akt3 T A 1: 177,059,386 D299V probably damaging Het
Arfgef3 G A 10: 18,591,347 P2035L probably benign Het
Atp13a3 C T 16: 30,351,228 probably null Het
Capn9 C A 8: 124,594,677 P151T probably damaging Het
Csrnp1 T A 9: 119,972,643 D450V probably damaging Het
Ctrb1 C T 8: 111,687,130 A201T possibly damaging Het
Erp27 T C 6: 136,911,546 T145A probably damaging Het
Fanca A T 8: 123,305,263 L256Q probably damaging Het
Fars2 G A 13: 36,537,380 V433I probably benign Het
Fbxo9 T A 9: 78,109,007 M1L probably benign Het
Fcnb C A 2: 28,084,830 V10F possibly damaging Het
Get4 G A 5: 139,252,499 G12D probably benign Het
Gmpr2 T A 14: 55,678,301 I312N probably damaging Het
Golm1 T A 13: 59,638,377 M334L probably benign Het
Itgam T A 7: 128,116,300 F1054L possibly damaging Het
Kcnk7 C A 19: 5,706,473 probably benign Het
Kif3b G A 2: 153,316,893 A205T probably damaging Het
Macf1 C T 4: 123,512,866 V276M probably damaging Het
Mdga2 T A 12: 66,550,575 N715I probably damaging Het
Mfap5 T A 6: 122,526,787 S103R possibly damaging Het
Nckap1 C T 2: 80,517,982 V876M probably damaging Het
Ncor1 A T 11: 62,333,659 probably benign Het
Nfya G A 17: 48,393,276 Q122* probably null Het
Nup210l G A 3: 90,104,164 probably benign Het
Olfr190 T G 16: 59,074,949 I44L probably damaging Het
Pcdhb19 T A 18: 37,498,808 L552Q probably damaging Het
Psmd2 T A 16: 20,654,647 S153T probably benign Het
Ptpn4 T C 1: 119,682,722 Y685C probably damaging Het
Rad54l2 T C 9: 106,720,376 R144G probably damaging Het
S1pr4 A C 10: 81,499,021 Y206* probably null Het
Slc39a14 A G 14: 70,316,436 probably null Het
Stx2 G A 5: 128,988,830 A254V probably damaging Het
Sumf2 G T 5: 129,859,870 G216C probably damaging Het
Tbc1d32 A G 10: 56,224,619 S88P probably benign Het
Trem1 T A 17: 48,232,796 M1K probably null Het
Trmt1l T C 1: 151,450,006 Y401H probably damaging Het
Ttc22 A T 4: 106,622,938 M130L probably damaging Het
Wnk1 T C 6: 119,963,328 E816G probably damaging Het
Wnt9b C T 11: 103,732,082 G165D probably damaging Het
Zscan21 A G 5: 138,133,383 T390A probably damaging Het
Zswim7 G T 11: 62,268,755 C85* probably null 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
IGL02346:Gad2 APN 2 22629939 splice site probably benign
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