Incidental Mutation 'R1122:Gad2'
ID 95702
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 039195-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1122 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 22512262-22583889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22513463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 31 (Q31L)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
AlphaFold P48320
Predicted Effect possibly damaging
Transcript: ENSMUST00000028123
AA Change: Q31L

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: Q31L

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156728
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,203 (GRCm39) L469F probably damaging Het
Adgrb1 C A 15: 74,419,534 (GRCm39) R792S probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap15 A T 2: 44,032,307 (GRCm39) H297L probably benign Het
Chtf18 T C 17: 25,943,597 (GRCm39) E333G probably damaging Het
Cyb5a A G 18: 84,895,964 (GRCm39) T77A possibly damaging Het
Entrep1 T C 19: 23,952,756 (GRCm39) E518G probably damaging Het
Exosc10 T C 4: 148,650,821 (GRCm39) W456R possibly damaging Het
Fhip2a A T 19: 57,370,733 (GRCm39) T551S probably benign Het
Gm9637 T A 14: 19,401,879 (GRCm38) noncoding transcript Het
Itgav A G 2: 83,622,283 (GRCm39) T622A probably benign Het
Kifc5b T A 17: 27,143,035 (GRCm39) V269E probably benign Het
Lrrc15 T C 16: 30,092,719 (GRCm39) N207D probably damaging Het
Map2k5 A G 9: 63,170,445 (GRCm39) V291A probably damaging Het
Mrc1 G A 2: 14,266,147 (GRCm39) probably null Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or12d12 T A 17: 37,611,019 (GRCm39) Q98L probably damaging Het
Or1o2 T A 17: 37,542,934 (GRCm39) D109V probably damaging Het
Pdzd2 A G 15: 12,457,981 (GRCm39) V294A probably benign Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rnf220 C T 4: 117,135,277 (GRCm39) G171S probably benign Het
Slc6a4 T C 11: 76,918,012 (GRCm39) S585P possibly damaging Het
Slc7a8 T C 14: 54,961,564 (GRCm39) E528G probably benign Het
Slco4c1 A G 1: 96,756,561 (GRCm39) I587T possibly damaging Het
Syt4 T A 18: 31,573,255 (GRCm39) H420L probably damaging Het
Tec T C 5: 72,936,792 (GRCm39) K236E probably damaging Het
Ttn A G 2: 76,545,676 (GRCm39) V32549A probably damaging Het
Uqcc4 T C 17: 25,403,846 (GRCm39) I62T probably benign Het
Wdfy3 T C 5: 102,030,832 (GRCm39) H2299R possibly damaging Het
Zfp729b A G 13: 67,743,403 (GRCm39) V64A 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
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
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'- TTCTGGGACACCGCAAGGAAAG -3'
(R):5'- GAATCCTCACCCCGACATCCATTTG -3'

Sequencing Primer
(F):5'- CGTCAGATTCCCTCGGAC -3'
(R):5'- ACATCCATTTGGAGGGTCAG -3'
Posted On 2014-01-05