Incidental Mutation 'R9212:Gad2'
ID |
698923 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9212 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 22571399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 446
(C446S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028123
AA Change: C446S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: C446S
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
T |
C |
6: 23,075,767 (GRCm39) |
D790G |
probably damaging |
Het |
Abcb4 |
C |
T |
5: 9,005,591 (GRCm39) |
P1158L |
probably damaging |
Het |
Actn3 |
T |
C |
19: 4,914,565 (GRCm39) |
D521G |
probably benign |
Het |
Adhfe1 |
A |
T |
1: 9,637,036 (GRCm39) |
D396V |
possibly damaging |
Het |
Arhgap28 |
A |
G |
17: 68,162,430 (GRCm39) |
M639T |
probably benign |
Het |
Asb18 |
T |
C |
1: 89,880,447 (GRCm39) |
T453A |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,655,389 (GRCm39) |
I1133T |
probably benign |
Het |
C2cd4b |
G |
A |
9: 67,667,028 (GRCm39) |
R8H |
probably damaging |
Het |
Ccdc91 |
A |
G |
6: 147,508,398 (GRCm39) |
I375V |
unknown |
Het |
Cdh24 |
T |
A |
14: 54,878,679 (GRCm39) |
|
probably benign |
Het |
Cfap57 |
T |
A |
4: 118,436,649 (GRCm39) |
I916F |
possibly damaging |
Het |
Cfap65 |
G |
A |
1: 74,959,567 (GRCm39) |
T861I |
probably benign |
Het |
Chd1 |
T |
G |
17: 15,950,767 (GRCm39) |
S153A |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,013,952 (GRCm39) |
I222F |
possibly damaging |
Het |
Clip1 |
T |
A |
5: 123,721,399 (GRCm39) |
K1165N |
probably damaging |
Het |
Cln6 |
A |
G |
9: 62,757,973 (GRCm39) |
H244R |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,500,555 (GRCm39) |
|
probably null |
Het |
Dhx57 |
T |
G |
17: 80,576,338 (GRCm39) |
D584A |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,628,852 (GRCm39) |
V4123M |
possibly damaging |
Het |
Fam193a |
T |
C |
5: 34,597,481 (GRCm39) |
V94A |
probably benign |
Het |
Fzd6 |
A |
G |
15: 38,898,289 (GRCm39) |
H543R |
probably damaging |
Het |
Gm29106 |
A |
G |
1: 118,127,270 (GRCm39) |
R321G |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,803,730 (GRCm39) |
V1447A |
probably benign |
Het |
Hus1b |
A |
C |
13: 31,130,858 (GRCm39) |
I267S |
possibly damaging |
Het |
Kifap3 |
C |
T |
1: 163,610,600 (GRCm39) |
L27F |
probably damaging |
Het |
Lancl2 |
A |
C |
6: 57,714,673 (GRCm39) |
I431L |
probably benign |
Het |
Ltbp2 |
G |
A |
12: 84,839,824 (GRCm39) |
P1069S |
probably damaging |
Het |
Mrgprb2 |
A |
T |
7: 48,202,392 (GRCm39) |
V111D |
possibly damaging |
Het |
Mta3 |
A |
T |
17: 84,015,846 (GRCm39) |
N16I |
probably damaging |
Het |
Npepps |
G |
T |
11: 97,129,047 (GRCm39) |
A379E |
probably damaging |
Het |
Nppc |
G |
T |
1: 86,597,619 (GRCm39) |
Q50K |
possibly damaging |
Het |
Or2a51 |
T |
A |
6: 43,178,756 (GRCm39) |
Y59* |
probably null |
Het |
Or5p54 |
C |
A |
7: 107,554,017 (GRCm39) |
H56Q |
probably benign |
Het |
Orc2 |
A |
G |
1: 58,515,695 (GRCm39) |
L271P |
probably damaging |
Het |
Papolg |
T |
C |
11: 23,823,817 (GRCm39) |
T334A |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,291,719 (GRCm39) |
S1313P |
probably damaging |
Het |
Ppp2r3d |
T |
C |
9: 101,063,175 (GRCm39) |
T154A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,050,493 (GRCm39) |
M2254V |
probably damaging |
Het |
Rabgap1 |
T |
C |
2: 37,377,152 (GRCm39) |
V328A |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,761,785 (GRCm39) |
V1616A |
probably damaging |
Het |
Rph3a |
T |
A |
5: 121,086,005 (GRCm39) |
H477L |
possibly damaging |
Het |
Rttn |
T |
C |
18: 89,064,286 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
C |
13: 11,844,560 (GRCm39) |
I392S |
probably damaging |
Het |
Sbsn |
A |
G |
7: 30,452,427 (GRCm39) |
N481D |
probably benign |
Het |
Sf3a3 |
G |
A |
4: 124,621,921 (GRCm39) |
E354K |
possibly damaging |
Het |
Slc15a2 |
A |
C |
16: 36,602,053 (GRCm39) |
Y81* |
probably null |
Het |
Slc5a2 |
C |
A |
7: 127,867,939 (GRCm39) |
Q202K |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,118,979 (GRCm39) |
N4677S |
possibly damaging |
Het |
Stxbp2 |
G |
C |
8: 3,686,220 (GRCm39) |
K313N |
|
Het |
Tbc1d2b |
A |
T |
9: 90,087,183 (GRCm39) |
L932Q |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,896,335 (GRCm39) |
Q264L |
probably benign |
Het |
Tubgcp3 |
A |
G |
8: 12,691,200 (GRCm39) |
V446A |
possibly damaging |
Het |
Unc93b1 |
G |
A |
19: 3,993,557 (GRCm39) |
R333Q |
probably damaging |
Het |
Wdr24 |
T |
C |
17: 26,043,472 (GRCm39) |
V98A |
probably benign |
Het |
Wdr62 |
G |
A |
7: 29,942,563 (GRCm39) |
S1015L |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,269,789 (GRCm39) |
*975W |
probably null |
Het |
Zfp317 |
A |
T |
9: 19,558,442 (GRCm39) |
K219* |
probably null |
Het |
Zfp974 |
A |
G |
7: 27,610,052 (GRCm39) |
S558P |
possibly damaging |
Het |
Zfp986 |
A |
G |
4: 145,625,798 (GRCm39) |
K153E |
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 |
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 |
|
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'- GCTTGCCTGGACAGTCTTATC -3'
(R):5'- TTGCCCATGGAGAATGCAGC -3'
Sequencing Primer
(F):5'- GGACAGTCTTATCCAGTAGTTTTTC -3'
(R):5'- CAGCCATGCAGACACAGGG -3'
|
Posted On |
2022-02-07 |