Incidental Mutation 'IGL01671:Gad2'
| ID |
103498 |
| 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 # |
IGL01671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 22513711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 49
(Y49*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
| AlphaFold |
P48320 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028123
AA Change: Y49*
|
| SMART Domains |
Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: Y49*
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdc7 |
C |
T |
5: 107,131,111 (GRCm39) |
P529S |
probably damaging |
Het |
| Defb45 |
T |
C |
2: 152,435,331 (GRCm39) |
K26E |
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,902 (GRCm39) |
L146S |
probably benign |
Het |
| Egln1 |
T |
C |
8: 125,637,454 (GRCm39) |
D399G |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 101,873,986 (GRCm39) |
C563S |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,594,079 (GRCm39) |
S470P |
probably benign |
Het |
| Gm21276 |
G |
T |
7: 38,464,151 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3115 |
G |
A |
14: 4,084,189 (GRCm38) |
C9Y |
probably benign |
Het |
| H2-M1 |
T |
C |
17: 36,981,330 (GRCm39) |
E235G |
probably damaging |
Het |
| Hjv |
T |
C |
3: 96,435,807 (GRCm39) |
V355A |
probably damaging |
Het |
| Hsp90b1 |
C |
T |
10: 86,540,189 (GRCm39) |
G41S |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,018,609 (GRCm39) |
D575G |
probably benign |
Het |
| Metap2 |
T |
C |
10: 93,707,340 (GRCm39) |
|
probably benign |
Het |
| Myh7 |
T |
C |
14: 55,210,381 (GRCm39) |
T1775A |
probably damaging |
Het |
| Or2aj5 |
A |
G |
16: 19,424,671 (GRCm39) |
I249T |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,255 (GRCm39) |
F107L |
probably benign |
Het |
| Or8g21 |
A |
G |
9: 38,906,149 (GRCm39) |
V194A |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,958,293 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,674,088 (GRCm39) |
I793V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,485,609 (GRCm39) |
I479V |
possibly damaging |
Het |
| Rhcg |
A |
C |
7: 79,248,299 (GRCm39) |
I435S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,380,678 (GRCm39) |
T535S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,805,141 (GRCm39) |
D279G |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,802,448 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation