Incidental Mutation 'R8737:Gad2'
ID |
663066 |
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 |
068584-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8737 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 22524985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 256
(Y256*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
AlphaFold |
P48320 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028123
AA Change: Y256*
|
SMART Domains |
Protein: ENSMUSP00000028123 Gene: ENSMUSG00000026787 AA Change: Y256*
Domain | Start | End | E-Value | Type |
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (67/67) |
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 |
Aff3 |
T |
A |
1: 38,308,810 (GRCm39) |
D375V |
probably damaging |
Het |
Agfg1 |
C |
G |
1: 82,871,243 (GRCm39) |
P492A |
probably benign |
Het |
Asb13 |
T |
C |
13: 3,692,089 (GRCm39) |
V23A |
probably damaging |
Het |
Atxn1l |
A |
T |
8: 110,460,230 (GRCm39) |
C11S |
probably damaging |
Het |
Bbs9 |
T |
G |
9: 22,590,244 (GRCm39) |
S661A |
probably benign |
Het |
Btrc |
T |
C |
19: 45,496,198 (GRCm39) |
V211A |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,030,794 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
T |
17: 45,943,801 (GRCm39) |
L578I |
probably benign |
Het |
Cd82 |
A |
T |
2: 93,252,239 (GRCm39) |
I124N |
probably damaging |
Het |
Cdkl4 |
G |
T |
17: 80,858,258 (GRCm39) |
H120Q |
probably benign |
Het |
Cftr |
T |
C |
6: 18,319,728 (GRCm39) |
V1393A |
probably damaging |
Het |
Col14a1 |
A |
T |
15: 55,318,706 (GRCm39) |
R1402* |
probably null |
Het |
Col6a3 |
T |
G |
1: 90,727,747 (GRCm39) |
Y1960S |
probably benign |
Het |
Col9a1 |
A |
T |
1: 24,224,127 (GRCm39) |
Y103F |
unknown |
Het |
Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
Cyp17a1 |
A |
T |
19: 46,658,166 (GRCm39) |
C249S |
probably benign |
Het |
Derl1 |
A |
T |
15: 57,755,568 (GRCm39) |
W42R |
probably benign |
Het |
Dhx36 |
C |
A |
3: 62,386,747 (GRCm39) |
M668I |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,044,428 (GRCm39) |
K3228E |
possibly damaging |
Het |
Dst |
C |
T |
1: 34,267,750 (GRCm39) |
A3050V |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,049,594 (GRCm39) |
Y70H |
probably damaging |
Het |
Epb42 |
T |
A |
2: 120,856,324 (GRCm39) |
T407S |
possibly damaging |
Het |
Fads2b |
T |
A |
2: 85,324,387 (GRCm39) |
|
probably benign |
Het |
Fap |
T |
A |
2: 62,342,777 (GRCm39) |
I608L |
probably benign |
Het |
Fblim1 |
A |
G |
4: 141,310,387 (GRCm39) |
Y292H |
probably benign |
Het |
Fmod |
A |
G |
1: 133,968,043 (GRCm39) |
I28V |
probably benign |
Het |
Gapdh |
G |
A |
6: 125,139,017 (GRCm39) |
A353V |
probably benign |
Het |
Gm5460 |
T |
G |
14: 33,739,149 (GRCm39) |
W44G |
unknown |
Het |
Ino80e |
A |
T |
7: 126,460,974 (GRCm39) |
V91D |
probably benign |
Het |
Iqgap2 |
G |
A |
13: 95,802,258 (GRCm39) |
P896S |
probably damaging |
Het |
Kif26b |
T |
A |
1: 178,692,430 (GRCm39) |
I457N |
probably damaging |
Het |
Klc2 |
T |
A |
19: 5,168,477 (GRCm39) |
|
probably benign |
Het |
Ldlrap1 |
C |
A |
4: 134,495,147 (GRCm39) |
W22L |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,017,665 (GRCm39) |
D439G |
possibly damaging |
Het |
Met |
T |
C |
6: 17,540,510 (GRCm39) |
L812P |
probably benign |
Het |
Mki67 |
A |
T |
7: 135,315,504 (GRCm39) |
I90N |
probably damaging |
Het |
Mptx2 |
A |
C |
1: 173,105,256 (GRCm39) |
S12A |
probably benign |
Het |
Mrgpra9 |
G |
T |
7: 46,885,624 (GRCm39) |
N14K |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,456,949 (GRCm39) |
R2350C |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,396,748 (GRCm39) |
I913T |
probably benign |
Het |
Nuggc |
G |
T |
14: 65,882,535 (GRCm39) |
C760F |
probably benign |
Het |
Or10a3m |
T |
A |
7: 108,312,964 (GRCm39) |
F135I |
probably damaging |
Het |
Or1j13 |
T |
A |
2: 36,369,629 (GRCm39) |
N171I |
probably benign |
Het |
Or2y1f |
T |
A |
11: 49,184,965 (GRCm39) |
F272L |
probably damaging |
Het |
Or4c110 |
C |
A |
2: 88,832,351 (GRCm39) |
E94* |
probably null |
Het |
Or51b6 |
A |
G |
7: 103,555,913 (GRCm39) |
N86S |
|
Het |
Pdgfrb |
C |
T |
18: 61,214,073 (GRCm39) |
P953S |
probably damaging |
Het |
Pemt |
T |
G |
11: 59,874,285 (GRCm39) |
I102L |
probably benign |
Het |
Pla2g4c |
G |
T |
7: 13,069,154 (GRCm39) |
M109I |
probably benign |
Het |
Pla2g4d |
T |
A |
2: 120,100,466 (GRCm39) |
Y622F |
probably damaging |
Het |
Pmpca |
T |
A |
2: 26,283,531 (GRCm39) |
V400D |
probably damaging |
Het |
Pnpt1 |
G |
C |
11: 29,104,815 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
C |
4: 143,935,192 (GRCm39) |
L183R |
probably damaging |
Het |
Prrc1 |
T |
A |
18: 57,496,408 (GRCm39) |
S120T |
possibly damaging |
Het |
Prrx2 |
T |
G |
2: 30,768,578 (GRCm39) |
V135G |
probably damaging |
Het |
Qrfprl |
A |
G |
6: 65,433,260 (GRCm39) |
K360R |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,593,054 (GRCm39) |
N352S |
probably benign |
Het |
Sftpa1 |
T |
C |
14: 40,856,044 (GRCm39) |
S130P |
probably damaging |
Het |
Slc35e2 |
T |
C |
4: 155,695,042 (GRCm39) |
L136P |
probably benign |
Het |
Tarbp2 |
T |
A |
15: 102,430,202 (GRCm39) |
S155T |
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
Tmem116 |
A |
T |
5: 121,620,433 (GRCm39) |
Y146F |
|
Het |
Ttc17 |
C |
T |
2: 94,206,374 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
G |
A |
17: 23,529,142 (GRCm39) |
T320I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,783 (GRCm39) |
V785D |
probably damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,693,722 (GRCm39) |
N357K |
probably damaging |
Het |
Zfp811 |
A |
T |
17: 33,017,197 (GRCm39) |
L281Q |
possibly 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 |
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 |
|
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'- CTCCCCACCAAATTAAGTTATATGCTC -3'
(R):5'- AGCTCAGCTCAACTCAACTTTC -3'
Sequencing Primer
(F):5'- CTCATGTTGGGCTGTGACCC -3'
(R):5'- GATATGTTTCCTGGAAAGAGGACATC -3'
|
Posted On |
2021-03-08 |