Incidental Mutation 'R5820:Gad2'
ID 449839
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 043400-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5820 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 22512262-22583889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22580261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 554 (V554A)
Ref Sequence ENSEMBL: ENSMUSP00000028123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028123]
AlphaFold P48320
Predicted Effect probably benign
Transcript: ENSMUST00000028123
AA Change: V554A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: V554A

DomainStartEndE-ValueType
Pfam:Pyridoxal_deC 138 509 7.8e-138 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,841,607 (GRCm39) Y596H probably benign Het
Adgrg3 A T 8: 95,766,221 (GRCm39) M351L possibly damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef38 A T 3: 132,866,560 (GRCm39) D192E probably benign Het
Arhgef40 T C 14: 52,224,953 (GRCm39) F33L possibly damaging Het
Arid1b A G 17: 5,046,529 (GRCm39) Y439C possibly damaging Het
Bltp1 T C 3: 37,093,675 (GRCm39) V875A probably benign Het
Bop1 G A 15: 76,339,041 (GRCm39) P386S probably damaging Het
Cacna1s A G 1: 136,007,342 (GRCm39) H453R probably damaging Het
Canx A G 11: 50,199,210 (GRCm39) V153A probably damaging Het
Chfr T A 5: 110,310,605 (GRCm39) D475E possibly damaging Het
Clcn7 A C 17: 25,368,026 (GRCm39) K208T probably damaging Het
Cmya5 G T 13: 93,229,288 (GRCm39) N1933K probably benign Het
CN725425 A G 15: 91,144,900 (GRCm39) T588A possibly damaging Het
Cwh43 G A 5: 73,585,975 (GRCm39) W358* probably null Het
Cyfip2 A T 11: 46,091,531 (GRCm39) W1130R probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Disp1 T C 1: 182,917,151 (GRCm39) S92G probably benign Het
Dusp6 A G 10: 99,099,864 (GRCm39) D104G possibly damaging Het
Dzank1 C T 2: 144,355,408 (GRCm39) V96M probably damaging Het
Ecscr C A 18: 35,850,320 (GRCm39) V52F possibly damaging Het
Epha7 A T 4: 28,949,365 (GRCm39) N712I probably damaging Het
Eva1a C T 6: 82,048,154 (GRCm39) P11S probably benign Het
Fam187b T C 7: 30,676,577 (GRCm39) C29R probably damaging Het
Fau T C 19: 6,109,452 (GRCm39) V117A probably benign Het
Fbxw11 A G 11: 32,685,374 (GRCm39) D369G probably damaging Het
Fkbp15 A G 4: 62,263,783 (GRCm39) F95L probably benign Het
Fkbp6 A T 5: 135,368,774 (GRCm39) probably null Het
Fmo9 T C 1: 166,492,170 (GRCm39) K367E possibly damaging Het
Gm18025 T C 12: 34,340,631 (GRCm39) D154G probably benign Het
Gm4353 A G 7: 115,683,693 (GRCm39) F34S possibly damaging Het
Gucy2e A G 11: 69,123,522 (GRCm39) I459T probably benign Het
Hpx A G 7: 105,240,995 (GRCm39) I426T possibly damaging Het
Hspa9 T C 18: 35,076,227 (GRCm39) T362A possibly damaging Het
Insr G A 8: 3,205,976 (GRCm39) P1271L probably damaging Het
Jarid2 G A 13: 45,055,777 (GRCm39) V328I possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif18b A G 11: 102,803,874 (GRCm39) S429P probably benign Het
Lats1 A T 10: 7,581,672 (GRCm39) H819L probably damaging Het
Lmnb1 T A 18: 56,873,858 (GRCm39) D421E possibly damaging Het
Lrp4 T C 2: 91,322,960 (GRCm39) I1148T probably damaging Het
Map1b T A 13: 99,569,332 (GRCm39) M1130L unknown Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Myh6 T C 14: 55,196,137 (GRCm39) Y554C probably damaging Het
Myl4 T C 11: 104,474,806 (GRCm39) F52L probably damaging Het
Nol12 C T 15: 78,824,680 (GRCm39) T169I probably benign Het
Nrde2 C T 12: 100,098,546 (GRCm39) R707H probably benign Het
Oasl1 G A 5: 115,075,037 (GRCm39) V366M possibly damaging Het
Or8b47 T C 9: 38,435,895 (GRCm39) I289T possibly damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polrmt C T 10: 79,574,157 (GRCm39) probably null Het
Ppil4 A G 10: 7,686,174 (GRCm39) D344G probably null Het
Ppp2r3d C T 9: 124,422,765 (GRCm38) A69T possibly damaging Het
Prmt3 C T 7: 49,498,554 (GRCm39) P487S probably damaging Het
Ptprm A T 17: 66,996,460 (GRCm39) L1209H probably damaging Het
Rnf115 G A 3: 96,635,164 (GRCm39) probably benign Het
Sec63 A G 10: 42,672,241 (GRCm39) D185G possibly damaging Het
Sema4b T C 7: 79,874,706 (GRCm39) S699P probably damaging Het
Serpinb3d T G 1: 107,006,089 (GRCm39) E333A probably damaging Het
Sh3rf2 T C 18: 42,274,112 (GRCm39) L426P possibly damaging Het
Slco6d1 A G 1: 98,427,503 (GRCm39) I611M probably damaging Het
Stk31 T A 6: 49,394,219 (GRCm39) Y194N probably damaging Het
Tlr9 G A 9: 106,099,906 (GRCm39) probably null Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Vmn1r188 G A 13: 22,272,256 (GRCm39) G70D possibly damaging Het
Zfp318 A G 17: 46,723,699 (GRCm39) M1901V probably benign Het
Zfp407 A T 18: 84,578,649 (GRCm39) D821E 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
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'- TTGCTATGGGATGCACTGC -3'
(R):5'- TACTCTACTGTGACACCACGATATAG -3'

Sequencing Primer
(F):5'- TGCACTGCATAACATACAAACATTG -3'
(R):5'- CTGTGACACCACGATATAGAAATAG -3'
Posted On 2016-12-20