Incidental Mutation 'IGL02346:Gad2'
| ID |
289301 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gad2
|
| Ensembl Gene |
ENSMUSG00000026787 |
| Gene Name |
glutamic acid decarboxylase 2 |
| Synonyms |
Gad-2, GAD(65), GAD65, 6330404F12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 22519951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
| AlphaFold |
P48320 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028123
|
| SMART Domains |
Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156728
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,376,760 (GRCm39) |
I1948F |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,750,919 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,601,271 (GRCm39) |
|
probably benign |
Het |
| Api5 |
A |
T |
2: 94,257,875 (GRCm39) |
F125I |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,884,762 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
T |
A |
16: 29,146,554 (GRCm39) |
K247* |
probably null |
Het |
| Col9a1 |
C |
T |
1: 24,262,690 (GRCm39) |
A585V |
probably damaging |
Het |
| Eef1akmt3 |
A |
G |
10: 126,868,805 (GRCm39) |
V223A |
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,503,700 (GRCm39) |
S766P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,595,158 (GRCm39) |
A402E |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,274,369 (GRCm39) |
E1859G |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,898,278 (GRCm39) |
V786G |
probably damaging |
Het |
| Gm5592 |
A |
G |
7: 40,938,889 (GRCm39) |
S724G |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,373,377 (GRCm39) |
Y634C |
probably damaging |
Het |
| Hoxa3 |
T |
A |
6: 52,147,579 (GRCm39) |
|
probably benign |
Het |
| Id4 |
C |
A |
13: 48,415,189 (GRCm39) |
Y72* |
probably null |
Het |
| Il5ra |
T |
A |
6: 106,719,619 (GRCm39) |
E71D |
probably benign |
Het |
| Kcnh4 |
G |
A |
11: 100,647,768 (GRCm39) |
T168M |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,967,291 (GRCm39) |
I1699L |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,992,836 (GRCm39) |
Y1048H |
probably damaging |
Het |
| Mix23 |
T |
C |
16: 35,912,205 (GRCm39) |
V87A |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,527 (GRCm39) |
V246L |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,874,153 (GRCm39) |
I560N |
probably benign |
Het |
| Or1j17 |
A |
T |
2: 36,578,016 (GRCm39) |
M1L |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,065 (GRCm39) |
I289V |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,055,939 (GRCm39) |
L181P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,552 (GRCm39) |
|
probably benign |
Het |
| Pdss2 |
T |
C |
10: 43,221,639 (GRCm39) |
F184L |
possibly damaging |
Het |
| Prpf39 |
C |
T |
12: 65,104,510 (GRCm39) |
T525I |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,047,782 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
A |
G |
17: 32,618,323 (GRCm39) |
W161R |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,470,125 (GRCm39) |
V329D |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,514 (GRCm39) |
M1L |
probably benign |
Het |
| Sptb |
C |
T |
12: 76,667,788 (GRCm39) |
D770N |
probably damaging |
Het |
| Tdp2 |
T |
C |
13: 25,025,335 (GRCm39) |
V368A |
possibly damaging |
Het |
| Uggt1 |
A |
G |
1: 36,218,751 (GRCm39) |
S59P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,501 (GRCm39) |
V54A |
possibly damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,990,850 (GRCm39) |
N837I |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,998,407 (GRCm39) |
E1118V |
probably benign |
Het |
| Wwox |
A |
G |
8: 115,438,858 (GRCm39) |
H308R |
probably benign |
Het |
| Zbtb41 |
C |
A |
1: 139,374,838 (GRCm39) |
P766Q |
probably damaging |
Het |
|
| Other mutations in Gad2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation