Incidental Mutation 'R5505:Gad2'
ID 430863
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 043066-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5505 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 22512262-22583889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 22514845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 108 (L108V)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
AlphaFold P48320
Predicted Effect probably benign
Transcript: ENSMUST00000028123
AA Change: L108V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: L108V

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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
Validation Efficiency 98% (47/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,606,036 (GRCm39) D240E probably damaging Het
Alpk3 G A 7: 80,728,309 (GRCm39) E480K possibly damaging Het
Arhgap20 A G 9: 51,750,248 (GRCm39) E372G probably damaging Het
Atp23 G T 10: 126,723,499 (GRCm39) A201D probably damaging Het
Bpifb1 A G 2: 154,046,699 (GRCm39) D73G probably benign Het
Ccdc7a A G 8: 129,706,655 (GRCm39) S325P possibly damaging Het
Cckar A G 5: 53,860,410 (GRCm39) Y140H probably damaging Het
Cd46 A T 1: 194,767,688 (GRCm39) D124E possibly damaging Het
Cep290 T C 10: 100,335,048 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Eif2ak1 T C 5: 143,803,745 (GRCm39) S34P probably benign Het
Enah T A 1: 181,734,018 (GRCm39) probably benign Het
Gpr22 T C 12: 31,759,724 (GRCm39) I133V probably damaging Het
Hdac4 T C 1: 91,903,187 (GRCm39) T13A probably benign Het
Ighv1-4 A G 12: 114,451,057 (GRCm39) V17A possibly damaging Het
Ints8 T A 4: 11,221,143 (GRCm39) Q744L probably benign Het
Lrit3 C T 3: 129,585,087 (GRCm39) V224I possibly damaging Het
Mgat4a T C 1: 37,535,035 (GRCm39) I108V probably benign Het
Mmp9 T C 2: 164,795,528 (GRCm39) I682T probably benign Het
Myh7b G A 2: 155,474,592 (GRCm39) A1742T probably benign Het
Nlrp12 C T 7: 3,298,015 (GRCm39) G52D probably damaging Het
Or5t9 T C 2: 86,659,845 (GRCm39) F250L possibly damaging Het
Pcnx1 T C 12: 81,996,927 (GRCm39) L941P probably damaging Het
Pla2g4e T C 2: 120,075,256 (GRCm39) R45G probably benign Het
Plcz1 C G 6: 139,961,942 (GRCm39) G203A probably damaging Het
Poldip2 A G 11: 78,406,001 (GRCm39) T76A probably benign Het
Prdm15 T A 16: 97,618,183 (GRCm39) H325L possibly damaging Het
Ralyl A T 3: 13,841,980 (GRCm39) I39F probably damaging Het
Rnf220 A C 4: 117,153,288 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,409,102 (GRCm39) K318E probably damaging Het
Rsbn1 T A 3: 103,836,259 (GRCm39) N432K probably damaging Het
Sh3yl1 T A 12: 30,992,072 (GRCm39) Y176N probably damaging Het
Slc25a30 G A 14: 76,000,789 (GRCm39) L272F probably damaging Het
Spag1 T C 15: 36,234,772 (GRCm39) V844A probably damaging Het
Srsf5 T C 12: 80,995,857 (GRCm39) probably benign Het
Tle2 T A 10: 81,417,574 (GRCm39) D223E probably benign Het
Tmem192 A G 8: 65,416,898 (GRCm39) E39G possibly damaging Het
Trpc6 T A 9: 8,626,736 (GRCm39) L362H probably damaging Het
Tuba4a A G 1: 75,193,060 (GRCm39) Y185H probably damaging Het
Uba6 A G 5: 86,268,405 (GRCm39) V941A probably benign Het
Vmn2r35 A T 7: 7,789,479 (GRCm39) Y753N probably damaging Het
Zfp941 C T 7: 140,391,830 (GRCm39) V510I 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
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
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'- CCAGAAGGGGATTTTATTCGC -3'
(R):5'- GCAATGCGTCAAAATTTCCTC -3'

Sequencing Primer
(F):5'- TGGTCTCCAATTCCCAGAGAG -3'
(R):5'- GTCAAAATTTCCTCCAGATTTTGCGG -3'
Posted On 2016-10-05