Incidental Mutation 'R9212:Gad2'
ID 698923
Institutional Source Beutler Lab
Gene Symbol Gad2
Ensembl Gene ENSMUSG00000026787
Gene Name glutamic acid decarboxylase 2
Synonyms Gad-2, GAD(65), GAD65, 6330404F12Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9212 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 22512262-22583889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22571399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 446 (C446S)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
AlphaFold P48320
Predicted Effect probably damaging
Transcript: ENSMUST00000028123
AA Change: C446S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: C446S

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (57/57)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,075,767 (GRCm39) D790G probably damaging Het
Abcb4 C T 5: 9,005,591 (GRCm39) P1158L probably damaging Het
Actn3 T C 19: 4,914,565 (GRCm39) D521G probably benign Het
Adhfe1 A T 1: 9,637,036 (GRCm39) D396V possibly damaging Het
Arhgap28 A G 17: 68,162,430 (GRCm39) M639T probably benign Het
Asb18 T C 1: 89,880,447 (GRCm39) T453A probably benign Het
Asxl3 T C 18: 22,655,389 (GRCm39) I1133T probably benign Het
C2cd4b G A 9: 67,667,028 (GRCm39) R8H probably damaging Het
Ccdc91 A G 6: 147,508,398 (GRCm39) I375V unknown Het
Cdh24 T A 14: 54,878,679 (GRCm39) probably benign Het
Cfap57 T A 4: 118,436,649 (GRCm39) I916F possibly damaging Het
Cfap65 G A 1: 74,959,567 (GRCm39) T861I probably benign Het
Chd1 T G 17: 15,950,767 (GRCm39) S153A possibly damaging Het
Cit A T 5: 116,013,952 (GRCm39) I222F possibly damaging Het
Clip1 T A 5: 123,721,399 (GRCm39) K1165N probably damaging Het
Cln6 A G 9: 62,757,973 (GRCm39) H244R probably damaging Het
Col19a1 A T 1: 24,500,555 (GRCm39) probably null Het
Dhx57 T G 17: 80,576,338 (GRCm39) D584A probably damaging Het
Dnah14 G A 1: 181,628,852 (GRCm39) V4123M possibly damaging Het
Fam193a T C 5: 34,597,481 (GRCm39) V94A probably benign Het
Fzd6 A G 15: 38,898,289 (GRCm39) H543R probably damaging Het
Gm29106 A G 1: 118,127,270 (GRCm39) R321G probably damaging Het
Gon4l T C 3: 88,803,730 (GRCm39) V1447A probably benign Het
Hus1b A C 13: 31,130,858 (GRCm39) I267S possibly damaging Het
Kifap3 C T 1: 163,610,600 (GRCm39) L27F probably damaging Het
Lancl2 A C 6: 57,714,673 (GRCm39) I431L probably benign Het
Ltbp2 G A 12: 84,839,824 (GRCm39) P1069S probably damaging Het
Mrgprb2 A T 7: 48,202,392 (GRCm39) V111D possibly damaging Het
Mta3 A T 17: 84,015,846 (GRCm39) N16I probably damaging Het
Npepps G T 11: 97,129,047 (GRCm39) A379E probably damaging Het
Nppc G T 1: 86,597,619 (GRCm39) Q50K possibly damaging Het
Or2a51 T A 6: 43,178,756 (GRCm39) Y59* probably null Het
Or5p54 C A 7: 107,554,017 (GRCm39) H56Q probably benign Het
Orc2 A G 1: 58,515,695 (GRCm39) L271P probably damaging Het
Papolg T C 11: 23,823,817 (GRCm39) T334A probably benign Het
Pikfyve T C 1: 65,291,719 (GRCm39) S1313P probably damaging Het
Ppp2r3d T C 9: 101,063,175 (GRCm39) T154A probably benign Het
Ptprz1 A G 6: 23,050,493 (GRCm39) M2254V probably damaging Het
Rabgap1 T C 2: 37,377,152 (GRCm39) V328A probably damaging Het
Rnf17 T C 14: 56,761,785 (GRCm39) V1616A probably damaging Het
Rph3a T A 5: 121,086,005 (GRCm39) H477L possibly damaging Het
Rttn T C 18: 89,064,286 (GRCm39) probably null Het
Ryr2 A C 13: 11,844,560 (GRCm39) I392S probably damaging Het
Sbsn A G 7: 30,452,427 (GRCm39) N481D probably benign Het
Sf3a3 G A 4: 124,621,921 (GRCm39) E354K possibly damaging Het
Slc15a2 A C 16: 36,602,053 (GRCm39) Y81* probably null Het
Slc5a2 C A 7: 127,867,939 (GRCm39) Q202K probably damaging Het
Spata31h1 T C 10: 82,118,979 (GRCm39) N4677S possibly damaging Het
Stxbp2 G C 8: 3,686,220 (GRCm39) K313N Het
Tbc1d2b A T 9: 90,087,183 (GRCm39) L932Q possibly damaging Het
Trim24 A T 6: 37,896,335 (GRCm39) Q264L probably benign Het
Tubgcp3 A G 8: 12,691,200 (GRCm39) V446A possibly damaging Het
Unc93b1 G A 19: 3,993,557 (GRCm39) R333Q probably damaging Het
Wdr24 T C 17: 26,043,472 (GRCm39) V98A probably benign Het
Wdr62 G A 7: 29,942,563 (GRCm39) S1015L probably damaging Het
Zfp280d A G 9: 72,269,789 (GRCm39) *975W probably null Het
Zfp317 A T 9: 19,558,442 (GRCm39) K219* probably null Het
Zfp974 A G 7: 27,610,052 (GRCm39) S558P possibly damaging Het
Zfp986 A G 4: 145,625,798 (GRCm39) K153E probably benign Het
Other mutations in Gad2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Gad2 APN 2 22,575,398 (GRCm39) missense probably benign 0.07
IGL00870:Gad2 APN 2 22,519,983 (GRCm39) missense probably benign 0.42
IGL01142:Gad2 APN 2 22,571,297 (GRCm39) splice site probably benign
IGL01577:Gad2 APN 2 22,571,292 (GRCm39) splice site probably benign
IGL01671:Gad2 APN 2 22,513,711 (GRCm39) nonsense probably null
IGL02346:Gad2 APN 2 22,519,951 (GRCm39) splice site probably benign
IGL02348:Gad2 APN 2 22,519,405 (GRCm39) missense probably damaging 1.00
IGL03113:Gad2 APN 2 22,571,367 (GRCm39) missense probably benign 0.09
gruene UTSW 2 22,575,079 (GRCm39) critical splice donor site probably null
Mosey UTSW 2 22,558,269 (GRCm39) missense probably damaging 1.00
R0630:Gad2 UTSW 2 22,580,348 (GRCm39) missense probably benign 0.14
R1109:Gad2 UTSW 2 22,580,171 (GRCm39) splice site probably benign
R1109:Gad2 UTSW 2 22,571,406 (GRCm39) missense probably damaging 1.00
R1122:Gad2 UTSW 2 22,513,463 (GRCm39) missense possibly damaging 0.68
R1604:Gad2 UTSW 2 22,513,852 (GRCm39) critical splice donor site probably null
R1773:Gad2 UTSW 2 22,580,219 (GRCm39) missense probably benign
R1895:Gad2 UTSW 2 22,575,440 (GRCm39) missense probably benign
R1946:Gad2 UTSW 2 22,575,440 (GRCm39) missense probably benign
R2329:Gad2 UTSW 2 22,558,301 (GRCm39) missense probably damaging 1.00
R2857:Gad2 UTSW 2 22,563,987 (GRCm39) missense probably benign 0.02
R3754:Gad2 UTSW 2 22,571,352 (GRCm39) missense possibly damaging 0.91
R3847:Gad2 UTSW 2 22,575,000 (GRCm39) missense probably benign 0.00
R4382:Gad2 UTSW 2 22,575,422 (GRCm39) missense probably benign
R4383:Gad2 UTSW 2 22,575,422 (GRCm39) missense probably benign
R4384:Gad2 UTSW 2 22,575,422 (GRCm39) missense probably benign
R4651:Gad2 UTSW 2 22,558,374 (GRCm39) missense probably damaging 1.00
R4700:Gad2 UTSW 2 22,563,982 (GRCm39) missense probably damaging 1.00
R4766:Gad2 UTSW 2 22,512,679 (GRCm39) missense probably damaging 0.99
R5279:Gad2 UTSW 2 22,563,969 (GRCm39) missense probably benign 0.38
R5372:Gad2 UTSW 2 22,580,255 (GRCm39) missense possibly damaging 0.84
R5505:Gad2 UTSW 2 22,514,845 (GRCm39) missense probably benign
R5820:Gad2 UTSW 2 22,580,261 (GRCm39) missense probably benign 0.00
R5868:Gad2 UTSW 2 22,575,079 (GRCm39) critical splice donor site probably null
R6026:Gad2 UTSW 2 22,513,748 (GRCm39) missense probably benign 0.00
R6497:Gad2 UTSW 2 22,558,269 (GRCm39) missense probably damaging 1.00
R6675:Gad2 UTSW 2 22,563,997 (GRCm39) missense possibly damaging 0.67
R7157:Gad2 UTSW 2 22,525,035 (GRCm39) missense probably damaging 0.98
R7352:Gad2 UTSW 2 22,513,835 (GRCm39) missense probably benign 0.00
R7951:Gad2 UTSW 2 22,513,499 (GRCm39) missense probably damaging 0.96
R8285:Gad2 UTSW 2 22,514,940 (GRCm39) missense probably benign 0.45
R8549:Gad2 UTSW 2 22,525,059 (GRCm39) critical splice donor site probably null
R8737:Gad2 UTSW 2 22,524,985 (GRCm39) nonsense probably null
R9012:Gad2 UTSW 2 22,580,263 (GRCm39) missense possibly damaging 0.56
R9184:Gad2 UTSW 2 22,558,331 (GRCm39) missense probably benign
R9243:Gad2 UTSW 2 22,525,053 (GRCm39) missense possibly damaging 0.79
R9395:Gad2 UTSW 2 22,514,879 (GRCm39) missense probably damaging 0.96
X0019:Gad2 UTSW 2 22,580,184 (GRCm39) critical splice acceptor site probably null
Z1177:Gad2 UTSW 2 22,525,026 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCTTGCCTGGACAGTCTTATC -3'
(R):5'- TTGCCCATGGAGAATGCAGC -3'

Sequencing Primer
(F):5'- GGACAGTCTTATCCAGTAGTTTTTC -3'
(R):5'- CAGCCATGCAGACACAGGG -3'
Posted On 2022-02-07