Incidental Mutation 'R6497:Gad2'
ID |
523048 |
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 |
044629-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6497 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 22558269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 329
(P329L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028123
AA Change: P329L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: P329L
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175070
|
Meta Mutation Damage Score |
0.9383 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
Validation Efficiency |
98% (42/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
T |
A |
19: 43,793,544 (GRCm39) |
Y399N |
probably damaging |
Het |
Acsm3 |
G |
A |
7: 119,379,972 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
T |
A |
7: 44,794,361 (GRCm39) |
S556C |
possibly damaging |
Het |
Armc7 |
T |
C |
11: 115,367,077 (GRCm39) |
I74T |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,298,719 (GRCm39) |
D80G |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,136,499 (GRCm39) |
I237K |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
Cd209c |
T |
C |
8: 3,994,122 (GRCm39) |
K113E |
possibly damaging |
Het |
Cdh20 |
G |
A |
1: 109,993,528 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
A |
T |
3: 144,465,020 (GRCm39) |
V71D |
possibly damaging |
Het |
Cntnap5a |
T |
C |
1: 116,505,627 (GRCm39) |
L1228P |
probably damaging |
Het |
Cntrl |
A |
G |
2: 35,025,584 (GRCm39) |
N85D |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,649,504 (GRCm39) |
V272M |
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,762,425 (GRCm39) |
E78G |
possibly damaging |
Het |
Cyp2c66 |
T |
A |
19: 39,151,821 (GRCm39) |
C179S |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,670,305 (GRCm39) |
I681V |
probably benign |
Het |
Egflam |
A |
T |
15: 7,280,784 (GRCm39) |
|
probably null |
Het |
Fut10 |
T |
A |
8: 31,726,278 (GRCm39) |
D344E |
probably damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,427 (GRCm39) |
E160G |
possibly damaging |
Het |
Gprc6a |
T |
C |
10: 51,491,797 (GRCm39) |
I476V |
probably benign |
Het |
Limk2 |
A |
G |
11: 3,310,492 (GRCm39) |
F71L |
probably benign |
Het |
Neb |
A |
T |
2: 52,148,301 (GRCm39) |
N2648K |
possibly damaging |
Het |
Or51f5 |
T |
A |
7: 102,424,657 (GRCm39) |
F309I |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,756,422 (GRCm39) |
|
probably benign |
Het |
Or8d1b |
G |
A |
9: 38,887,490 (GRCm39) |
V173I |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,906 (GRCm39) |
V692E |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,843,869 (GRCm39) |
K4802Q |
unknown |
Het |
Primpol |
A |
T |
8: 47,039,376 (GRCm39) |
|
probably null |
Het |
Prr14 |
C |
T |
7: 127,073,750 (GRCm39) |
R205C |
probably benign |
Het |
Rbm12b1 |
T |
C |
4: 12,146,431 (GRCm39) |
I801T |
probably benign |
Het |
Ror2 |
A |
T |
13: 53,285,955 (GRCm39) |
N86K |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sh2d4b |
A |
G |
14: 40,596,139 (GRCm39) |
V81A |
probably benign |
Het |
Skint6 |
A |
G |
4: 113,093,595 (GRCm39) |
Y183H |
probably damaging |
Het |
Snapc3 |
G |
T |
4: 83,371,363 (GRCm39) |
E388* |
probably null |
Het |
Srrm4 |
A |
T |
5: 116,605,550 (GRCm39) |
S236T |
unknown |
Het |
Srrt |
G |
T |
5: 137,295,768 (GRCm39) |
P193H |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,472,142 (GRCm39) |
T810S |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,642,391 (GRCm39) |
H6R |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,557,102 (GRCm39) |
T1181A |
probably damaging |
Het |
Tmem184a |
A |
G |
5: 139,798,755 (GRCm39) |
F65L |
probably damaging |
Het |
Vwa8 |
A |
G |
14: 79,333,841 (GRCm39) |
I1330M |
probably benign |
Het |
Zfp827 |
T |
A |
8: 79,906,757 (GRCm39) |
M923K |
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 |
|
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 |
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'- CTCACTAAAAGAAGCCTGGACTTC -3'
(R):5'- TTCCACGAGCTTGATCTAAAACAAC -3'
Sequencing Primer
(F):5'- TGAGGCCACTCTACATACTGAGG -3'
(R):5'- ACAACGTGTAAAGGTGTTTACTGG -3'
|
Posted On |
2018-06-06 |