Incidental Mutation 'IGL01501:Gabrg3'
ID |
88923 |
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 # |
IGL01501
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56374214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 451
(T451A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
AlphaFold |
P27681 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068911
AA Change: T451A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000067632 Gene: ENSMUSG00000055026 AA Change: T451A
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
T |
A |
8: 25,404,369 (GRCm39) |
N212I |
probably damaging |
Het |
Adgre4 |
T |
G |
17: 56,109,002 (GRCm39) |
|
probably benign |
Het |
Amer3 |
G |
A |
1: 34,627,398 (GRCm39) |
V546M |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,476,308 (GRCm39) |
S1504P |
possibly damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,042,987 (GRCm39) |
A851V |
probably benign |
Het |
Ddhd2 |
A |
T |
8: 26,225,857 (GRCm39) |
M500K |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,146,370 (GRCm39) |
S191P |
probably benign |
Het |
Gzme |
T |
A |
14: 56,356,858 (GRCm39) |
M35L |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,616,593 (GRCm39) |
I47V |
probably benign |
Het |
Klk1b11 |
A |
T |
7: 43,649,258 (GRCm39) |
|
probably benign |
Het |
Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
Or4f14b |
A |
G |
2: 111,774,863 (GRCm39) |
*313Q |
probably null |
Het |
Or5i1 |
T |
A |
2: 87,613,480 (GRCm39) |
W199R |
possibly damaging |
Het |
Ptprz1 |
A |
T |
6: 22,973,081 (GRCm39) |
N283I |
probably damaging |
Het |
Slc25a33 |
T |
C |
4: 149,840,615 (GRCm39) |
|
probably benign |
Het |
Snap91 |
T |
C |
9: 86,720,178 (GRCm39) |
M120V |
probably damaging |
Het |
Tbc1d8 |
G |
A |
1: 39,428,416 (GRCm39) |
R510C |
probably damaging |
Het |
Thoc1 |
T |
C |
18: 9,986,321 (GRCm39) |
L351P |
possibly damaging |
Het |
Tmco5b |
A |
G |
2: 113,121,726 (GRCm39) |
K180R |
probably null |
Het |
Zfp553 |
G |
T |
7: 126,835,387 (GRCm39) |
S314I |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,396,211 (GRCm39) |
|
probably null |
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 |
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 |
2013-12-03 |