Incidental Mutation 'R7157:Gad2'
| ID |
557350 |
| 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 |
045258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
22512262-22583889 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22525035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 273
(L273P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028123]
|
| AlphaFold |
P48320 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028123
AA Change: L273P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028123
Gene: ENSMUSG00000026787
AA Change: L273P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pyridoxal_deC
|
138 |
509 |
7.8e-138 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
A |
7: 41,276,400 (GRCm39) |
G701D |
probably damaging |
Het |
| 6030468B19Rik |
T |
A |
11: 117,693,780 (GRCm39) |
N82K |
probably damaging |
Het |
| Abca17 |
A |
T |
17: 24,554,564 (GRCm39) |
V130E |
possibly damaging |
Het |
| Alpk2 |
T |
A |
18: 65,399,348 (GRCm39) |
K2077* |
probably null |
Het |
| Aox1 |
T |
C |
1: 58,322,651 (GRCm39) |
F73S |
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,668,542 (GRCm39) |
C965* |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,980,030 (GRCm39) |
V90E |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,751,953 (GRCm39) |
H523Q |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,916 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Capn15 |
A |
T |
17: 26,184,228 (GRCm39) |
N150K |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,591 (GRCm39) |
W602R |
probably benign |
Het |
| Clnk |
A |
T |
5: 38,927,234 (GRCm39) |
S82T |
possibly damaging |
Het |
| Cmah |
T |
C |
13: 24,620,612 (GRCm39) |
I282T |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,779,131 (GRCm39) |
I382T |
probably benign |
Het |
| Dhrs7c |
G |
T |
11: 67,700,722 (GRCm39) |
|
probably null |
Het |
| Dhrs9 |
T |
A |
2: 69,223,502 (GRCm39) |
D83E |
probably damaging |
Het |
| Dmac2l |
A |
T |
12: 69,788,562 (GRCm39) |
N154Y |
probably benign |
Het |
| Dmgdh |
G |
A |
13: 93,852,043 (GRCm39) |
G624E |
probably damaging |
Het |
| Dnajc30 |
C |
A |
5: 135,093,569 (GRCm39) |
F155L |
probably damaging |
Het |
| Drc7 |
A |
C |
8: 95,800,778 (GRCm39) |
K600T |
probably damaging |
Het |
| Efhb |
A |
C |
17: 53,707,928 (GRCm39) |
I745S |
probably damaging |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Fasn |
T |
A |
11: 120,701,291 (GRCm39) |
K1988* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,032,536 (GRCm39) |
K887* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,032,537 (GRCm39) |
K887I |
unknown |
Het |
| Gm9195 |
A |
G |
14: 72,718,221 (GRCm39) |
Y152H |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,781,061 (GRCm39) |
D237N |
probably damaging |
Het |
| Hamp |
A |
C |
7: 30,641,961 (GRCm39) |
C65G |
possibly damaging |
Het |
| Hes3 |
A |
G |
4: 152,372,581 (GRCm39) |
|
probably benign |
Het |
| Hgh1 |
T |
C |
15: 76,254,650 (GRCm39) |
I342T |
probably damaging |
Het |
| Hlcs |
T |
A |
16: 94,069,023 (GRCm39) |
K66* |
probably null |
Het |
| Ift80 |
A |
T |
3: 68,898,277 (GRCm39) |
C19* |
probably null |
Het |
| Kbtbd12 |
C |
T |
6: 88,595,650 (GRCm39) |
C60Y |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,263,804 (GRCm39) |
V696E |
probably benign |
Het |
| Lect2 |
A |
G |
13: 56,690,803 (GRCm39) |
I117T |
unknown |
Het |
| Lipn |
T |
A |
19: 34,054,390 (GRCm39) |
Y209* |
probably null |
Het |
| Lpin3 |
G |
A |
2: 160,740,627 (GRCm39) |
V391I |
probably benign |
Het |
| Mocs2 |
A |
T |
13: 114,961,143 (GRCm39) |
I47L |
probably benign |
Het |
| Mogs |
T |
A |
6: 83,095,488 (GRCm39) |
H768Q |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,276,317 (GRCm39) |
I686N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,299,793 (GRCm39) |
C1376* |
probably null |
Het |
| Ninl |
A |
G |
2: 150,791,263 (GRCm39) |
Y1087H |
possibly damaging |
Het |
| Or10a3 |
A |
G |
7: 108,480,475 (GRCm39) |
F113L |
probably benign |
Het |
| Or10ak14 |
A |
G |
4: 118,611,615 (GRCm39) |
V42A |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,385,689 (GRCm39) |
L214S |
probably damaging |
Het |
| Or51b6b |
A |
C |
7: 103,309,788 (GRCm39) |
L223R |
probably damaging |
Het |
| Or6s1 |
A |
G |
14: 51,308,616 (GRCm39) |
V78A |
possibly damaging |
Het |
| Or8k30 |
T |
A |
2: 86,339,369 (GRCm39) |
C189S |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,398,363 (GRCm39) |
F768S |
probably damaging |
Het |
| Plekha2 |
A |
G |
8: 25,553,957 (GRCm39) |
F82L |
probably damaging |
Het |
| Ppie |
T |
C |
4: 123,028,900 (GRCm39) |
E111G |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,547,679 (GRCm39) |
Y277C |
probably damaging |
Het |
| Scgb2b12 |
A |
G |
7: 32,026,102 (GRCm39) |
V30A |
probably benign |
Het |
| Serac1 |
A |
T |
17: 6,124,476 (GRCm39) |
S16T |
probably benign |
Het |
| Sf3a3 |
T |
C |
4: 124,616,693 (GRCm39) |
Y192H |
probably damaging |
Het |
| Slc14a1 |
A |
G |
18: 78,145,626 (GRCm39) |
V436A |
probably benign |
Het |
| Smc3 |
T |
A |
19: 53,630,329 (GRCm39) |
M1112K |
probably damaging |
Het |
| Tnk2 |
G |
A |
16: 32,499,986 (GRCm39) |
G1017E |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,953,947 (GRCm39) |
K603* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,815,462 (GRCm39) |
S1183P |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,614,724 (GRCm39) |
V16964E |
possibly damaging |
Het |
| Usp17le |
G |
A |
7: 104,417,696 (GRCm39) |
T482I |
probably benign |
Het |
| Vmn1r219 |
T |
A |
13: 23,347,525 (GRCm39) |
M238K |
probably damaging |
Het |
| Wfs1 |
C |
T |
5: 37,124,516 (GRCm39) |
G792S |
probably benign |
Het |
| Xpa |
A |
T |
4: 46,185,612 (GRCm39) |
L122Q |
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 |
|
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 |
|
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'- CTATTCTCTAGGTCAGTGGAAATCC -3'
(R):5'- GTTTCCCTGGATTTCAGAGATAAGG -3'
Sequencing Primer
(F):5'- TGGAAATCCCAAGTGCTGC -3'
(R):5'- TGGATTTCAGAGATAAGGAGCATATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation