Incidental Mutation 'IGL03237:Gabrg3'
ID |
414119 |
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 # |
IGL03237
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 56632460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
AlphaFold |
P27681 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068911
|
SMART Domains |
Protein: ENSMUSP00000067632 Gene: ENSMUSG00000055026
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
G |
13: 91,929,388 (GRCm39) |
Y405C |
probably benign |
Het |
Adam19 |
A |
G |
11: 46,028,383 (GRCm39) |
K672R |
probably benign |
Het |
Adamts7 |
C |
A |
9: 90,070,717 (GRCm39) |
P613T |
probably damaging |
Het |
Adgrl1 |
G |
T |
8: 84,656,312 (GRCm39) |
|
probably null |
Het |
Adrb1 |
A |
T |
19: 56,711,800 (GRCm39) |
N333Y |
probably damaging |
Het |
Aqp7 |
C |
T |
4: 41,034,884 (GRCm39) |
V190M |
possibly damaging |
Het |
Atg101 |
T |
C |
15: 101,185,054 (GRCm39) |
F59L |
probably damaging |
Het |
Capn12 |
T |
C |
7: 28,590,366 (GRCm39) |
S638P |
probably damaging |
Het |
Ccm2l |
T |
C |
2: 152,907,922 (GRCm39) |
|
probably benign |
Het |
Cdc14a |
A |
T |
3: 116,198,275 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
A |
T |
1: 110,066,037 (GRCm39) |
K770N |
possibly damaging |
Het |
Clxn |
A |
G |
16: 14,738,652 (GRCm39) |
D161G |
probably damaging |
Het |
Col23a1 |
A |
C |
11: 51,458,746 (GRCm39) |
E294D |
possibly damaging |
Het |
Cped1 |
A |
T |
6: 22,233,595 (GRCm39) |
Y679F |
probably damaging |
Het |
Ctu2 |
A |
G |
8: 123,205,792 (GRCm39) |
E180G |
probably benign |
Het |
Cyp11b2 |
C |
T |
15: 74,722,914 (GRCm39) |
V495I |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,810,668 (GRCm39) |
M1563K |
probably benign |
Het |
Hsd17b11 |
A |
G |
5: 104,151,036 (GRCm39) |
*233Q |
probably null |
Het |
Klhl41 |
T |
C |
2: 69,500,902 (GRCm39) |
V121A |
possibly damaging |
Het |
Kptn |
A |
T |
7: 15,854,050 (GRCm39) |
D56V |
probably damaging |
Het |
L3mbtl4 |
T |
A |
17: 69,084,856 (GRCm39) |
I589N |
probably damaging |
Het |
Lpl |
A |
T |
8: 69,347,378 (GRCm39) |
N177Y |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,250,512 (GRCm39) |
V380M |
probably damaging |
Het |
Mecom |
A |
T |
3: 30,010,648 (GRCm39) |
|
probably benign |
Het |
Mertk |
A |
G |
2: 128,632,192 (GRCm39) |
E707G |
probably damaging |
Het |
Myo5a |
A |
T |
9: 75,037,276 (GRCm39) |
I160F |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,751,800 (GRCm39) |
I81N |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Nipal1 |
C |
T |
5: 72,824,150 (GRCm39) |
R76C |
probably damaging |
Het |
Noc3l |
C |
T |
19: 38,803,125 (GRCm39) |
|
probably null |
Het |
Nt5e |
A |
G |
9: 88,237,787 (GRCm39) |
D239G |
probably damaging |
Het |
Olr1 |
A |
C |
6: 129,479,117 (GRCm39) |
W34G |
probably damaging |
Het |
Plekhf1 |
A |
T |
7: 37,920,799 (GRCm39) |
N256K |
probably benign |
Het |
Psen2 |
T |
C |
1: 180,068,414 (GRCm39) |
T80A |
possibly damaging |
Het |
Psg27 |
A |
G |
7: 18,294,417 (GRCm39) |
I330T |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,328,783 (GRCm39) |
V2894A |
probably damaging |
Het |
Sgcz |
A |
T |
8: 38,030,332 (GRCm39) |
D170E |
probably benign |
Het |
Snrnp200 |
C |
T |
2: 127,075,233 (GRCm39) |
A1573V |
probably damaging |
Het |
Steap3 |
C |
T |
1: 120,171,520 (GRCm39) |
G195D |
probably damaging |
Het |
Tmem165 |
T |
A |
5: 76,347,356 (GRCm39) |
Y5* |
probably null |
Het |
Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,799,118 (GRCm39) |
C530S |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 101,992,465 (GRCm39) |
D3389V |
probably damaging |
Het |
Zfp128 |
A |
C |
7: 12,624,953 (GRCm39) |
E440D |
probably benign |
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 |
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 |
2016-08-02 |