Incidental Mutation 'IGL02637:Gabrg3'
ID |
301577 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gabrg3
|
Ensembl Gene |
ENSMUSG00000055026 |
Gene Name |
gamma-aminobutyric acid type A receptor, subunit gamma 3 |
Synonyms |
Gabrg-3, B230362M20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02637
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56384775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 262
(I262T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
AlphaFold |
P27681 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068911
AA Change: I262T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000067632 Gene: ENSMUSG00000055026 AA Change: I262T
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 |
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,309,907 (GRCm39) |
Y435C |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,460,143 (GRCm39) |
|
probably benign |
Het |
Ampd1 |
T |
C |
3: 103,002,199 (GRCm39) |
|
probably benign |
Het |
Camk1g |
G |
A |
1: 193,030,696 (GRCm39) |
P338S |
probably benign |
Het |
Cog3 |
T |
C |
14: 75,959,636 (GRCm39) |
|
probably benign |
Het |
Crat |
A |
G |
2: 30,296,401 (GRCm39) |
V355A |
probably benign |
Het |
Ctla2a |
T |
A |
13: 61,083,899 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
C |
A |
2: 130,656,227 (GRCm39) |
|
probably benign |
Het |
Efhb |
A |
G |
17: 53,756,580 (GRCm39) |
I357T |
probably benign |
Het |
Fh1 |
T |
C |
1: 175,437,332 (GRCm39) |
M256V |
probably benign |
Het |
Gata2 |
C |
T |
6: 88,181,558 (GRCm39) |
|
probably benign |
Het |
Gm6356 |
A |
G |
14: 6,970,926 (GRCm38) |
V178A |
possibly damaging |
Het |
Hacl1 |
T |
C |
14: 31,362,458 (GRCm39) |
E63G |
probably damaging |
Het |
Hid1 |
A |
T |
11: 115,241,421 (GRCm39) |
I623N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,452 (GRCm39) |
K1017E |
possibly damaging |
Het |
Ifi208 |
C |
T |
1: 173,506,508 (GRCm39) |
T97I |
probably benign |
Het |
Ighg1 |
T |
C |
12: 113,293,132 (GRCm39) |
H186R |
unknown |
Het |
Igkv8-26 |
T |
C |
6: 70,170,642 (GRCm39) |
S78P |
probably damaging |
Het |
Itih3 |
T |
C |
14: 30,637,617 (GRCm39) |
N514S |
probably benign |
Het |
Kcnj16 |
A |
T |
11: 110,916,439 (GRCm39) |
D367V |
probably benign |
Het |
Klhl23 |
A |
T |
2: 69,659,258 (GRCm39) |
R428* |
probably null |
Het |
Lgmn |
T |
C |
12: 102,366,485 (GRCm39) |
E216G |
probably damaging |
Het |
Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
Lrp5 |
C |
T |
19: 3,680,269 (GRCm39) |
G405D |
probably benign |
Het |
Lrrc74a |
C |
T |
12: 86,788,521 (GRCm39) |
R53* |
probably null |
Het |
Lsm12 |
G |
A |
11: 102,054,948 (GRCm39) |
R123C |
probably benign |
Het |
Marchf5 |
T |
A |
19: 37,198,033 (GRCm39) |
|
probably benign |
Het |
Mark3 |
C |
A |
12: 111,559,090 (GRCm39) |
A44D |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,685,003 (GRCm39) |
N522I |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,455,045 (GRCm39) |
R2611S |
possibly damaging |
Het |
Nlrp4d |
T |
C |
7: 10,116,482 (GRCm39) |
|
noncoding transcript |
Het |
Npnt |
T |
A |
3: 132,590,271 (GRCm39) |
I507F |
possibly damaging |
Het |
Or51a7 |
G |
A |
7: 102,622,250 (GRCm39) |
|
probably benign |
Het |
Pde4a |
T |
A |
9: 21,112,628 (GRCm39) |
L91Q |
probably damaging |
Het |
Pdzd2 |
C |
T |
15: 12,385,720 (GRCm39) |
V1017M |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,427,720 (GRCm39) |
N3259S |
probably damaging |
Het |
Plxnb2 |
A |
T |
15: 89,048,260 (GRCm39) |
H683Q |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,898,009 (GRCm39) |
S96T |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,089,704 (GRCm39) |
K347E |
probably benign |
Het |
Ro60 |
A |
G |
1: 143,646,526 (GRCm39) |
V73A |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,979,378 (GRCm39) |
D246G |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 142,080,327 (GRCm39) |
T1273I |
probably damaging |
Het |
Slc12a8 |
A |
T |
16: 33,355,330 (GRCm39) |
M49L |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,859,728 (GRCm39) |
|
probably null |
Het |
Surf2 |
A |
G |
2: 26,809,790 (GRCm39) |
K247E |
probably damaging |
Het |
Sys1 |
G |
A |
2: 164,303,312 (GRCm39) |
V9M |
possibly damaging |
Het |
Tcf4 |
G |
A |
18: 69,480,421 (GRCm39) |
D18N |
probably damaging |
Het |
Tmc6 |
A |
T |
11: 117,658,416 (GRCm39) |
V773D |
possibly damaging |
Het |
Trappc13 |
T |
C |
13: 104,286,570 (GRCm39) |
Q229R |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,984,099 (GRCm39) |
E481G |
probably benign |
Het |
Xpo5 |
C |
A |
17: 46,546,905 (GRCm39) |
D885E |
probably 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 |
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 |
R7886:Gabrg3
|
UTSW |
7 |
56,374,229 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |