Incidental Mutation 'R7886:Gabrg3'
ID |
609062 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrg3
|
Ensembl Gene |
ENSMUSG00000055026 |
Gene Name |
gamma-aminobutyric acid type A receptor, subunit gamma 3 |
Synonyms |
Gabrg-3, B230362M20Rik |
MMRRC Submission |
045938-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7886 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56374229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 446
(R446W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
AlphaFold |
P27681 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068911
AA Change: R446W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067632 Gene: ENSMUSG00000055026 AA Change: R446W
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
47 |
253 |
2.9e-51 |
PFAM |
Pfam:Neur_chan_memb
|
260 |
461 |
1.4e-39 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730049H05Rik |
T |
G |
6: 92,811,437 (GRCm39) |
I130S |
unknown |
Het |
Ano5 |
A |
G |
7: 51,220,141 (GRCm39) |
H427R |
probably benign |
Het |
Atad2 |
A |
T |
15: 57,989,532 (GRCm39) |
V182E |
probably damaging |
Het |
B4galnt1 |
T |
C |
10: 127,002,923 (GRCm39) |
Y147H |
probably damaging |
Het |
C1s2 |
T |
C |
6: 124,605,289 (GRCm39) |
S349G |
possibly damaging |
Het |
Ccdc51 |
G |
T |
9: 108,920,655 (GRCm39) |
A181S |
probably damaging |
Het |
Dcc |
G |
A |
18: 72,087,939 (GRCm39) |
Q100* |
probably null |
Het |
Dchs2 |
A |
T |
3: 83,212,392 (GRCm39) |
I2064F |
probably damaging |
Het |
Depdc1a |
G |
A |
3: 159,221,706 (GRCm39) |
V217I |
probably benign |
Het |
Dnajc7 |
A |
T |
11: 100,492,629 (GRCm39) |
F31I |
probably benign |
Het |
Eftud2 |
C |
T |
11: 102,730,934 (GRCm39) |
R825H |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,551,256 (GRCm39) |
E237G |
probably damaging |
Het |
Fdx2 |
A |
T |
9: 20,984,623 (GRCm39) |
|
probably null |
Het |
Frem1 |
T |
C |
4: 82,934,643 (GRCm39) |
D106G |
possibly damaging |
Het |
Get1 |
T |
A |
16: 95,946,768 (GRCm39) |
L31Q |
possibly damaging |
Het |
Gm42669 |
A |
G |
5: 107,656,572 (GRCm39) |
E362G |
|
Het |
Hmcn1 |
A |
T |
1: 150,533,221 (GRCm39) |
I3022N |
possibly damaging |
Het |
Ifna2 |
C |
A |
4: 88,601,506 (GRCm39) |
V171F |
probably damaging |
Het |
Igsf10 |
T |
C |
3: 59,235,748 (GRCm39) |
N1478D |
probably benign |
Het |
Kcnc1 |
C |
A |
7: 46,077,045 (GRCm39) |
D282E |
probably damaging |
Het |
Klhdc2 |
G |
A |
12: 69,351,406 (GRCm39) |
|
probably null |
Het |
Macrod2 |
G |
A |
2: 141,566,565 (GRCm39) |
G188S |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,843,128 (GRCm39) |
F186L |
possibly damaging |
Het |
Mettl21a |
T |
C |
1: 64,654,343 (GRCm39) |
E58G |
probably damaging |
Het |
Muc16 |
A |
T |
9: 18,497,278 (GRCm39) |
C6625S |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,382,689 (GRCm39) |
S7T |
probably benign |
Het |
Nfs1 |
T |
A |
2: 155,983,981 (GRCm39) |
D132V |
unknown |
Het |
Nlgn1 |
T |
C |
3: 25,490,071 (GRCm39) |
D552G |
probably damaging |
Het |
Numa1 |
C |
T |
7: 101,663,072 (GRCm39) |
T2066I |
probably benign |
Het |
Or10k2 |
T |
C |
8: 84,268,576 (GRCm39) |
S268P |
possibly damaging |
Het |
Or2t48 |
C |
A |
11: 58,419,880 (GRCm39) |
V311L |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,021 (GRCm39) |
Y219N |
probably damaging |
Het |
Or7a39 |
A |
G |
10: 78,715,657 (GRCm39) |
Y217C |
possibly damaging |
Het |
Or7g29 |
A |
T |
9: 19,287,202 (GRCm39) |
|
probably null |
Het |
Pde11a |
C |
T |
2: 76,121,547 (GRCm39) |
V345I |
probably benign |
Het |
Pglyrp2 |
A |
G |
17: 32,637,735 (GRCm39) |
S98P |
possibly damaging |
Het |
Pik3c3 |
C |
T |
18: 30,452,641 (GRCm39) |
Q643* |
probably null |
Het |
Pold2 |
T |
C |
11: 5,822,714 (GRCm39) |
Y402C |
probably damaging |
Het |
Pom121 |
T |
C |
5: 135,410,848 (GRCm39) |
T770A |
unknown |
Het |
Pou4f1 |
A |
T |
14: 104,704,228 (GRCm39) |
V68E |
probably damaging |
Het |
Ppfia1 |
G |
T |
7: 144,073,020 (GRCm39) |
Q265K |
probably benign |
Het |
Pygl |
A |
G |
12: 70,253,130 (GRCm39) |
|
probably null |
Het |
Rdh19 |
A |
G |
10: 127,686,169 (GRCm39) |
T94A |
probably benign |
Het |
Scgb1b12 |
A |
G |
7: 32,033,922 (GRCm39) |
T61A |
probably damaging |
Het |
Sirpb1c |
C |
T |
3: 15,886,366 (GRCm39) |
A337T |
probably benign |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,009,746 (GRCm39) |
E381G |
possibly damaging |
Het |
Tnik |
A |
G |
3: 28,720,288 (GRCm39) |
I1304V |
probably damaging |
Het |
Tpmt |
C |
A |
13: 47,193,638 (GRCm39) |
G54C |
probably damaging |
Het |
Usp25 |
A |
T |
16: 76,910,659 (GRCm39) |
Q905L |
probably damaging |
Het |
Vmn1r91 |
T |
A |
7: 19,835,490 (GRCm39) |
N136K |
probably benign |
Het |
Wdr70 |
C |
T |
15: 8,108,733 (GRCm39) |
E138K |
probably benign |
Het |
Zbed3 |
A |
G |
13: 95,472,633 (GRCm39) |
D19G |
possibly damaging |
Het |
Zfp369 |
A |
G |
13: 65,439,868 (GRCm39) |
K184R |
possibly damaging |
Het |
|
Other mutations in Gabrg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00782:Gabrg3
|
APN |
7 |
57,031,415 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01501:Gabrg3
|
APN |
7 |
56,374,214 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02637:Gabrg3
|
APN |
7 |
56,384,775 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02707:Gabrg3
|
APN |
7 |
56,632,439 (GRCm39) |
nonsense |
probably null |
|
IGL03084:Gabrg3
|
APN |
7 |
56,384,812 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03237:Gabrg3
|
APN |
7 |
56,632,460 (GRCm39) |
splice site |
probably null |
|
IGL03275:Gabrg3
|
APN |
7 |
56,423,095 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03309:Gabrg3
|
APN |
7 |
56,632,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R0265:Gabrg3
|
UTSW |
7 |
57,031,365 (GRCm39) |
nonsense |
probably null |
|
R0612:Gabrg3
|
UTSW |
7 |
56,379,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R0627:Gabrg3
|
UTSW |
7 |
56,374,343 (GRCm39) |
missense |
probably damaging |
0.99 |
R0676:Gabrg3
|
UTSW |
7 |
56,374,169 (GRCm39) |
missense |
probably damaging |
0.99 |
R1178:Gabrg3
|
UTSW |
7 |
56,384,839 (GRCm39) |
missense |
probably benign |
0.01 |
R1600:Gabrg3
|
UTSW |
7 |
56,384,822 (GRCm39) |
nonsense |
probably null |
|
R1702:Gabrg3
|
UTSW |
7 |
56,634,848 (GRCm39) |
missense |
probably damaging |
0.98 |
R1836:Gabrg3
|
UTSW |
7 |
56,379,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Gabrg3
|
UTSW |
7 |
56,384,835 (GRCm39) |
missense |
probably benign |
0.01 |
R3816:Gabrg3
|
UTSW |
7 |
57,031,412 (GRCm39) |
nonsense |
probably null |
|
R3818:Gabrg3
|
UTSW |
7 |
57,031,412 (GRCm39) |
nonsense |
probably null |
|
R3819:Gabrg3
|
UTSW |
7 |
57,031,412 (GRCm39) |
nonsense |
probably null |
|
R4905:Gabrg3
|
UTSW |
7 |
56,374,304 (GRCm39) |
missense |
probably damaging |
0.98 |
R5643:Gabrg3
|
UTSW |
7 |
56,423,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6088:Gabrg3
|
UTSW |
7 |
56,634,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R6862:Gabrg3
|
UTSW |
7 |
56,423,059 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6879:Gabrg3
|
UTSW |
7 |
57,031,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R7075:Gabrg3
|
UTSW |
7 |
56,973,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R7305:Gabrg3
|
UTSW |
7 |
56,384,833 (GRCm39) |
missense |
probably benign |
0.01 |
R7594:Gabrg3
|
UTSW |
7 |
56,632,443 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7793:Gabrg3
|
UTSW |
7 |
56,829,328 (GRCm39) |
missense |
probably benign |
0.00 |
R7989:Gabrg3
|
UTSW |
7 |
56,374,389 (GRCm39) |
missense |
possibly damaging |
0.70 |
R8002:Gabrg3
|
UTSW |
7 |
56,384,716 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8203:Gabrg3
|
UTSW |
7 |
56,423,008 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8875:Gabrg3
|
UTSW |
7 |
56,379,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Gabrg3
|
UTSW |
7 |
56,634,706 (GRCm39) |
missense |
probably damaging |
0.96 |
R9027:Gabrg3
|
UTSW |
7 |
56,423,122 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9090:Gabrg3
|
UTSW |
7 |
56,829,386 (GRCm39) |
missense |
probably benign |
0.03 |
R9229:Gabrg3
|
UTSW |
7 |
56,374,268 (GRCm39) |
missense |
probably damaging |
0.99 |
R9271:Gabrg3
|
UTSW |
7 |
56,829,386 (GRCm39) |
missense |
probably benign |
0.03 |
R9673:Gabrg3
|
UTSW |
7 |
56,973,422 (GRCm39) |
missense |
probably damaging |
0.98 |
R9734:Gabrg3
|
UTSW |
7 |
56,634,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGGAGTCATGTCCTTCCC -3'
(R):5'- TGTGCCTGCAGAATTACTCTCTAC -3'
Sequencing Primer
(F):5'- GGAGTCATGTCCTTCCCTGCTAC -3'
(R):5'- ACTCTCTACTGGACATGAGGC -3'
|
Posted On |
2019-12-20 |