Incidental Mutation 'R6497:Gad2'
ID 523048
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 044629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6497 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 22512262-22583889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 22558269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 329 (P329L)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
AlphaFold P48320
Predicted Effect probably damaging
Transcript: ENSMUST00000028123
AA Change: P329L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: P329L

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175070
Meta Mutation Damage Score 0.9383 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.5%
Validation Efficiency 98% (42/43)
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
Abcc2 T A 19: 43,793,544 (GRCm39) Y399N probably damaging Het
Acsm3 G A 7: 119,379,972 (GRCm39) probably null Het
Aldh16a1 T A 7: 44,794,361 (GRCm39) S556C possibly damaging Het
Armc7 T C 11: 115,367,077 (GRCm39) I74T probably benign Het
Atp13a4 T C 16: 29,298,719 (GRCm39) D80G probably damaging Het
Bicral A T 17: 47,136,499 (GRCm39) I237K probably damaging Het
Caskin1 T C 17: 24,723,522 (GRCm39) V770A probably benign Het
Cd209c T C 8: 3,994,122 (GRCm39) K113E possibly damaging Het
Cdh20 G A 1: 109,993,528 (GRCm39) probably null Het
Clca3a1 A T 3: 144,465,020 (GRCm39) V71D possibly damaging Het
Cntnap5a T C 1: 116,505,627 (GRCm39) L1228P probably damaging Het
Cntrl A G 2: 35,025,584 (GRCm39) N85D possibly damaging Het
Coch G A 12: 51,649,504 (GRCm39) V272M probably benign Het
Col22a1 T C 15: 71,762,425 (GRCm39) E78G possibly damaging Het
Cyp2c66 T A 19: 39,151,821 (GRCm39) C179S probably damaging Het
Dsg3 A G 18: 20,670,305 (GRCm39) I681V probably benign Het
Egflam A T 15: 7,280,784 (GRCm39) probably null Het
Fut10 T A 8: 31,726,278 (GRCm39) D344E probably damaging Het
Gm14393 T C 2: 174,903,427 (GRCm39) E160G possibly damaging Het
Gprc6a T C 10: 51,491,797 (GRCm39) I476V probably benign Het
Limk2 A G 11: 3,310,492 (GRCm39) F71L probably benign Het
Neb A T 2: 52,148,301 (GRCm39) N2648K possibly damaging Het
Or51f5 T A 7: 102,424,657 (GRCm39) F309I probably benign Het
Or52d1 T C 7: 103,756,422 (GRCm39) probably benign Het
Or8d1b G A 9: 38,887,490 (GRCm39) V173I probably benign Het
Pcdhgb7 T A 18: 37,886,906 (GRCm39) V692E probably damaging Het
Pclo A C 5: 14,843,869 (GRCm39) K4802Q unknown Het
Primpol A T 8: 47,039,376 (GRCm39) probably null Het
Prr14 C T 7: 127,073,750 (GRCm39) R205C probably benign Het
Rbm12b1 T C 4: 12,146,431 (GRCm39) I801T probably benign Het
Ror2 A T 13: 53,285,955 (GRCm39) N86K probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Sh2d4b A G 14: 40,596,139 (GRCm39) V81A probably benign Het
Skint6 A G 4: 113,093,595 (GRCm39) Y183H probably damaging Het
Snapc3 G T 4: 83,371,363 (GRCm39) E388* probably null Het
Srrm4 A T 5: 116,605,550 (GRCm39) S236T unknown Het
Srrt G T 5: 137,295,768 (GRCm39) P193H probably damaging Het
Sspo A T 6: 48,472,142 (GRCm39) T810S possibly damaging Het
Stk36 A G 1: 74,642,391 (GRCm39) H6R probably damaging Het
Tiam2 A G 17: 3,557,102 (GRCm39) T1181A probably damaging Het
Tmem184a A G 5: 139,798,755 (GRCm39) F65L probably damaging Het
Vwa8 A G 14: 79,333,841 (GRCm39) I1330M probably benign Het
Zfp827 T A 8: 79,906,757 (GRCm39) M923K probably 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
R6026:Gad2 UTSW 2 22,513,748 (GRCm39) missense probably benign 0.00
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'- CTCACTAAAAGAAGCCTGGACTTC -3'
(R):5'- TTCCACGAGCTTGATCTAAAACAAC -3'

Sequencing Primer
(F):5'- TGAGGCCACTCTACATACTGAGG -3'
(R):5'- ACAACGTGTAAAGGTGTTTACTGG -3'
Posted On 2018-06-06