Incidental Mutation 'R2329:Gad2'
ID |
245780 |
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 |
040320-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2329 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 22558301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 340
(V340M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028123
AA Change: V340M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: V340M
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175070
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
Adora2a |
T |
A |
10: 75,162,017 (GRCm39) |
V52E |
probably damaging |
Het |
Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCTCACTAAAAGAAGCCTG -3'
(R):5'- TGTAAGTTCTGTGCCTCTGAAATC -3'
Sequencing Primer
(F):5'- TGAGGCCACTCTACATACTGAGG -3'
(R):5'- CTGTGCCTCTGAAATCTTTAAAAGC -3'
|
Posted On |
2014-10-30 |