Incidental Mutation 'IGL00782:Gabrg3'
| ID |
10884 |
| 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 # |
IGL00782
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57031415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 42
(S42P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068394]
[ENSMUST00000068911]
|
| AlphaFold |
P27681 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068394
AA Change: S42P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065255
Gene: ENSMUSG00000055026
AA Change: S42P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
SCOP:d1i9ba_
|
53 |
90 |
9e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068911
AA Change: S42P
PolyPhen 2
Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: S42P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171965
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
T |
7: 119,172,391 (GRCm39) |
E78V |
probably damaging |
Het |
| Atxn7 |
A |
G |
14: 14,096,218 (GRCm38) |
I508V |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,582 (GRCm39) |
N1075S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,375,826 (GRCm39) |
I689T |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,893,619 (GRCm39) |
|
probably benign |
Het |
| Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,203,095 (GRCm39) |
N244S |
probably damaging |
Het |
| Hcrtr2 |
A |
T |
9: 76,137,779 (GRCm39) |
|
probably benign |
Het |
| Jcad |
T |
C |
18: 4,675,073 (GRCm39) |
L945S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,331,989 (GRCm39) |
M1589V |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,556,153 (GRCm39) |
|
probably benign |
Het |
| Samd1 |
T |
C |
8: 84,726,246 (GRCm39) |
F464S |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,127,116 (GRCm39) |
S213P |
possibly damaging |
Het |
| Taar1 |
A |
G |
10: 23,796,344 (GRCm39) |
N14S |
probably benign |
Het |
| Tinf2 |
A |
G |
14: 55,917,921 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,528,555 (GRCm39) |
N2140S |
probably benign |
Het |
| Zfp780b |
T |
C |
7: 27,664,186 (GRCm39) |
D123G |
probably benign |
Het |
|
| Other mutations in Gabrg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation