Incidental Mutation 'R5505:Gad2'
ID |
430863 |
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 |
043066-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5505 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 22514845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 108
(L108V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028123
AA Change: L108V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: L108V
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156728
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (47/48) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
Rnf220 |
A |
C |
4: 117,153,288 (GRCm39) |
|
probably benign |
Het |
Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
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 |
|
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 |
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'- CCAGAAGGGGATTTTATTCGC -3'
(R):5'- GCAATGCGTCAAAATTTCCTC -3'
Sequencing Primer
(F):5'- TGGTCTCCAATTCCCAGAGAG -3'
(R):5'- GTCAAAATTTCCTCCAGATTTTGCGG -3'
|
Posted On |
2016-10-05 |