Incidental Mutation 'R5820:Gad2'
ID |
449839 |
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 |
043400-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5820 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 22580261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 554
(V554A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028123
AA Change: V554A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: V554A
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
A |
G |
14: 118,841,607 (GRCm39) |
Y596H |
probably benign |
Het |
Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgef38 |
A |
T |
3: 132,866,560 (GRCm39) |
D192E |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,224,953 (GRCm39) |
F33L |
possibly damaging |
Het |
Arid1b |
A |
G |
17: 5,046,529 (GRCm39) |
Y439C |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 37,093,675 (GRCm39) |
V875A |
probably benign |
Het |
Bop1 |
G |
A |
15: 76,339,041 (GRCm39) |
P386S |
probably damaging |
Het |
Cacna1s |
A |
G |
1: 136,007,342 (GRCm39) |
H453R |
probably damaging |
Het |
Canx |
A |
G |
11: 50,199,210 (GRCm39) |
V153A |
probably damaging |
Het |
Chfr |
T |
A |
5: 110,310,605 (GRCm39) |
D475E |
possibly damaging |
Het |
Clcn7 |
A |
C |
17: 25,368,026 (GRCm39) |
K208T |
probably damaging |
Het |
Cmya5 |
G |
T |
13: 93,229,288 (GRCm39) |
N1933K |
probably benign |
Het |
CN725425 |
A |
G |
15: 91,144,900 (GRCm39) |
T588A |
possibly damaging |
Het |
Cwh43 |
G |
A |
5: 73,585,975 (GRCm39) |
W358* |
probably null |
Het |
Cyfip2 |
A |
T |
11: 46,091,531 (GRCm39) |
W1130R |
probably damaging |
Het |
Ddx60 |
A |
T |
8: 62,409,155 (GRCm39) |
D397V |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,917,151 (GRCm39) |
S92G |
probably benign |
Het |
Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
Dzank1 |
C |
T |
2: 144,355,408 (GRCm39) |
V96M |
probably damaging |
Het |
Ecscr |
C |
A |
18: 35,850,320 (GRCm39) |
V52F |
possibly damaging |
Het |
Epha7 |
A |
T |
4: 28,949,365 (GRCm39) |
N712I |
probably damaging |
Het |
Eva1a |
C |
T |
6: 82,048,154 (GRCm39) |
P11S |
probably benign |
Het |
Fam187b |
T |
C |
7: 30,676,577 (GRCm39) |
C29R |
probably damaging |
Het |
Fau |
T |
C |
19: 6,109,452 (GRCm39) |
V117A |
probably benign |
Het |
Fbxw11 |
A |
G |
11: 32,685,374 (GRCm39) |
D369G |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,263,783 (GRCm39) |
F95L |
probably benign |
Het |
Fkbp6 |
A |
T |
5: 135,368,774 (GRCm39) |
|
probably null |
Het |
Fmo9 |
T |
C |
1: 166,492,170 (GRCm39) |
K367E |
possibly damaging |
Het |
Gm18025 |
T |
C |
12: 34,340,631 (GRCm39) |
D154G |
probably benign |
Het |
Gm4353 |
A |
G |
7: 115,683,693 (GRCm39) |
F34S |
possibly damaging |
Het |
Gucy2e |
A |
G |
11: 69,123,522 (GRCm39) |
I459T |
probably benign |
Het |
Hpx |
A |
G |
7: 105,240,995 (GRCm39) |
I426T |
possibly damaging |
Het |
Hspa9 |
T |
C |
18: 35,076,227 (GRCm39) |
T362A |
possibly damaging |
Het |
Insr |
G |
A |
8: 3,205,976 (GRCm39) |
P1271L |
probably damaging |
Het |
Jarid2 |
G |
A |
13: 45,055,777 (GRCm39) |
V328I |
possibly damaging |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,803,874 (GRCm39) |
S429P |
probably benign |
Het |
Lats1 |
A |
T |
10: 7,581,672 (GRCm39) |
H819L |
probably damaging |
Het |
Lmnb1 |
T |
A |
18: 56,873,858 (GRCm39) |
D421E |
possibly damaging |
Het |
Lrp4 |
T |
C |
2: 91,322,960 (GRCm39) |
I1148T |
probably damaging |
Het |
Map1b |
T |
A |
13: 99,569,332 (GRCm39) |
M1130L |
unknown |
Het |
Mlip |
G |
A |
9: 77,137,764 (GRCm39) |
S381L |
probably damaging |
Het |
Myh6 |
T |
C |
14: 55,196,137 (GRCm39) |
Y554C |
probably damaging |
Het |
Myl4 |
T |
C |
11: 104,474,806 (GRCm39) |
F52L |
probably damaging |
Het |
Nol12 |
C |
T |
15: 78,824,680 (GRCm39) |
T169I |
probably benign |
Het |
Nrde2 |
C |
T |
12: 100,098,546 (GRCm39) |
R707H |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,075,037 (GRCm39) |
V366M |
possibly damaging |
Het |
Or8b47 |
T |
C |
9: 38,435,895 (GRCm39) |
I289T |
possibly damaging |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Polrmt |
C |
T |
10: 79,574,157 (GRCm39) |
|
probably null |
Het |
Ppil4 |
A |
G |
10: 7,686,174 (GRCm39) |
D344G |
probably null |
Het |
Ppp2r3d |
C |
T |
9: 124,422,765 (GRCm38) |
A69T |
possibly damaging |
Het |
Prmt3 |
C |
T |
7: 49,498,554 (GRCm39) |
P487S |
probably damaging |
Het |
Ptprm |
A |
T |
17: 66,996,460 (GRCm39) |
L1209H |
probably damaging |
Het |
Rnf115 |
G |
A |
3: 96,635,164 (GRCm39) |
|
probably benign |
Het |
Sec63 |
A |
G |
10: 42,672,241 (GRCm39) |
D185G |
possibly damaging |
Het |
Sema4b |
T |
C |
7: 79,874,706 (GRCm39) |
S699P |
probably damaging |
Het |
Serpinb3d |
T |
G |
1: 107,006,089 (GRCm39) |
E333A |
probably damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,274,112 (GRCm39) |
L426P |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,427,503 (GRCm39) |
I611M |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,394,219 (GRCm39) |
Y194N |
probably damaging |
Het |
Tlr9 |
G |
A |
9: 106,099,906 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Vmn1r188 |
G |
A |
13: 22,272,256 (GRCm39) |
G70D |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,723,699 (GRCm39) |
M1901V |
probably benign |
Het |
Zfp407 |
A |
T |
18: 84,578,649 (GRCm39) |
D821E |
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 |
|
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'- TTGCTATGGGATGCACTGC -3'
(R):5'- TACTCTACTGTGACACCACGATATAG -3'
Sequencing Primer
(F):5'- TGCACTGCATAACATACAAACATTG -3'
(R):5'- CTGTGACACCACGATATAGAAATAG -3'
|
Posted On |
2016-12-20 |