Incidental Mutation 'R6026:Gad2'
ID 480015
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 044198-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6026 (G1)
Quality Score 95.0077
Status Validated
Chromosome 2
Chromosomal Location 22512262-22583889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 22513748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 62 (V62M)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
AlphaFold P48320
Predicted Effect probably benign
Transcript: ENSMUST00000028123
AA Change: V62M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: V62M

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156728
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Col26a1 A G 5: 136,876,354 (GRCm39) C89R probably damaging Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Ercc3 T C 18: 32,378,974 (GRCm39) probably null Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hhip A T 8: 80,699,069 (GRCm39) C666S probably damaging Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Ppp6r2 A G 15: 89,167,113 (GRCm39) N776S probably benign Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Stat5a T C 11: 100,771,142 (GRCm39) F574L probably damaging Het
Tcirg1 T C 19: 3,947,487 (GRCm39) H624R probably benign Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging 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
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
R9212:Gad2 UTSW 2 22,571,399 (GRCm39) missense probably damaging 1.00
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'- CATCGGAAACAAGCTGTGC -3'
(R):5'- TCACCCCGACATCCATTTGG -3'

Sequencing Primer
(F):5'- GAGCAAAGTCGTGGGCTC -3'
(R):5'- CCATTTGGAGGGTCAGATGTC -3'
Posted On 2017-06-26