Incidental Mutation 'R4382:Gad2'
ID |
325355 |
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 |
041679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4382 (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 22575422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 509
(V509I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028123
AA Change: V509I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: V509I
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,281,596 (GRCm39) |
T399S |
possibly damaging |
Het |
Acp2 |
T |
C |
2: 91,038,454 (GRCm39) |
S309P |
possibly damaging |
Het |
Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
B4galnt4 |
T |
C |
7: 140,650,449 (GRCm39) |
V772A |
probably damaging |
Het |
Boc |
A |
T |
16: 44,311,545 (GRCm39) |
L726H |
probably damaging |
Het |
Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
Ccdc92b |
G |
A |
11: 74,520,842 (GRCm39) |
S48N |
probably damaging |
Het |
Ceacam12 |
C |
T |
7: 17,799,959 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,466,483 (GRCm39) |
M1L |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,407 (GRCm39) |
T300A |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
Col6a6 |
G |
A |
9: 105,660,889 (GRCm39) |
R407W |
probably damaging |
Het |
Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,459,288 (GRCm39) |
I1273T |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,402,012 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
A |
T |
10: 59,733,321 (GRCm39) |
K372N |
probably benign |
Het |
Fhl5 |
A |
C |
4: 25,200,118 (GRCm39) |
C239G |
probably benign |
Het |
Glrb |
T |
A |
3: 80,786,946 (GRCm39) |
R72S |
probably damaging |
Het |
Gm6811 |
T |
C |
17: 21,314,865 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
Hk2 |
A |
T |
6: 82,712,322 (GRCm39) |
L542Q |
probably null |
Het |
Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
Kel |
T |
A |
6: 41,675,334 (GRCm39) |
T306S |
probably benign |
Het |
Lpo |
T |
C |
11: 87,713,027 (GRCm39) |
D25G |
probably benign |
Het |
Mboat7 |
T |
A |
7: 3,691,545 (GRCm39) |
Y109F |
possibly damaging |
Het |
Myh15 |
T |
G |
16: 48,963,306 (GRCm39) |
N1082K |
probably benign |
Het |
Nagk |
A |
G |
6: 83,774,993 (GRCm39) |
E90G |
probably benign |
Het |
Nagpa |
A |
T |
16: 5,021,819 (GRCm39) |
F10I |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,548,998 (GRCm39) |
L226H |
probably damaging |
Het |
Otog |
T |
A |
7: 45,939,122 (GRCm39) |
C2051S |
probably damaging |
Het |
Ptpn6 |
A |
G |
6: 124,704,361 (GRCm39) |
V315A |
possibly damaging |
Het |
Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
Rnf41 |
T |
C |
10: 128,272,392 (GRCm39) |
S140P |
probably benign |
Het |
Ros1 |
C |
T |
10: 51,997,055 (GRCm39) |
V1206I |
possibly damaging |
Het |
Scgb2b12 |
T |
A |
7: 32,024,870 (GRCm39) |
E112D |
probably benign |
Het |
Serpinb3b |
T |
A |
1: 107,083,273 (GRCm39) |
M210L |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,493,596 (GRCm39) |
R1672G |
possibly damaging |
Het |
Smc5 |
A |
G |
19: 23,246,210 (GRCm39) |
S70P |
probably benign |
Het |
Spen |
C |
T |
4: 141,200,450 (GRCm39) |
G2703S |
possibly damaging |
Het |
Stard9 |
C |
G |
2: 120,464,703 (GRCm39) |
A56G |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,194,307 (GRCm39) |
S87P |
probably damaging |
Het |
Zzef1 |
T |
G |
11: 72,765,938 (GRCm39) |
S1488R |
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 |
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'- CTGGGATAAAGAGTGGACTCAC -3'
(R):5'- AGGGGACAATGGCTTTGCAC -3'
Sequencing Primer
(F):5'- TGGACTCACAACTCTGAAGAATGTG -3'
(R):5'- ACAATGGCTTTGCACATCTGG -3'
|
Posted On |
2015-07-06 |