Incidental Mutation 'R8002:Gabrg3'
ID |
616409 |
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 |
046042-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8002 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56384716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 282
(T282A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
AlphaFold |
P27681 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068911
AA Change: T282A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000067632 Gene: ENSMUSG00000055026 AA Change: T282A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
C |
T |
7: 119,172,480 (GRCm39) |
R133C |
possibly damaging |
Het |
Adgrf4 |
T |
C |
17: 42,978,683 (GRCm39) |
E220G |
probably benign |
Het |
Alx3 |
T |
A |
3: 107,508,055 (GRCm39) |
L188* |
probably null |
Het |
Arhgef2 |
A |
T |
3: 88,554,117 (GRCm39) |
I969F |
probably damaging |
Het |
Atf6 |
A |
G |
1: 170,646,823 (GRCm39) |
V350A |
probably benign |
Het |
Atp1a3 |
C |
A |
7: 24,700,096 (GRCm39) |
G88V |
probably damaging |
Het |
Brd8 |
T |
C |
18: 34,741,609 (GRCm39) |
T360A |
probably benign |
Het |
Casp1 |
C |
A |
9: 5,303,164 (GRCm39) |
T206K |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,311,656 (GRCm39) |
E214G |
probably damaging |
Het |
Ccdc81 |
T |
C |
7: 89,525,343 (GRCm39) |
E477G |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,311,285 (GRCm39) |
R1409S |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
Cpne3 |
A |
T |
4: 19,528,232 (GRCm39) |
F342I |
probably damaging |
Het |
Crot |
A |
C |
5: 9,043,599 (GRCm39) |
S8A |
probably benign |
Het |
Cyp11b2 |
T |
C |
15: 74,727,881 (GRCm39) |
H67R |
probably damaging |
Het |
Dnah1 |
A |
T |
14: 31,020,679 (GRCm39) |
L1230H |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
Gm13199 |
A |
G |
2: 5,867,458 (GRCm39) |
S13P |
unknown |
Het |
Gnptab |
A |
T |
10: 88,276,130 (GRCm39) |
D1139V |
probably benign |
Het |
Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
Jtb |
T |
C |
3: 90,141,251 (GRCm39) |
S76P |
probably benign |
Het |
Klk1b27 |
T |
A |
7: 43,705,445 (GRCm39) |
D172E |
probably benign |
Het |
Lpcat4 |
G |
A |
2: 112,074,699 (GRCm39) |
V307I |
probably benign |
Het |
Ltn1 |
A |
C |
16: 87,212,835 (GRCm39) |
S575R |
probably benign |
Het |
Map3k13 |
A |
G |
16: 21,723,878 (GRCm39) |
T287A |
probably benign |
Het |
Marco |
T |
G |
1: 120,422,509 (GRCm39) |
I58L |
probably benign |
Het |
Nadk |
G |
T |
4: 155,661,655 (GRCm39) |
|
probably null |
Het |
Or11h7 |
A |
T |
14: 50,891,314 (GRCm39) |
I207F |
probably damaging |
Het |
Otof |
G |
A |
5: 30,537,954 (GRCm39) |
T1215I |
probably benign |
Het |
Pigw |
A |
T |
11: 84,769,249 (GRCm39) |
C27S |
probably benign |
Het |
Pla2g10 |
A |
T |
16: 13,542,912 (GRCm39) |
M125K |
unknown |
Het |
Rfx4 |
A |
C |
10: 84,676,721 (GRCm39) |
M204L |
probably damaging |
Het |
Septin1 |
T |
C |
7: 126,815,074 (GRCm39) |
D209G |
probably damaging |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc26a4 |
T |
C |
12: 31,597,969 (GRCm39) |
D159G |
probably benign |
Het |
Sptbn4 |
C |
A |
7: 27,117,417 (GRCm39) |
S444I |
possibly damaging |
Het |
Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
Stard6 |
T |
A |
18: 70,633,597 (GRCm39) |
D201E |
possibly damaging |
Het |
Tas2r114 |
T |
C |
6: 131,666,102 (GRCm39) |
T309A |
probably damaging |
Het |
Tdrd6 |
C |
A |
17: 43,940,710 (GRCm39) |
A113S |
probably damaging |
Het |
Tigd2 |
T |
G |
6: 59,187,494 (GRCm39) |
N120K |
probably damaging |
Het |
Tomm70a |
A |
G |
16: 56,957,097 (GRCm39) |
N224S |
probably damaging |
Het |
Tspo |
T |
C |
15: 83,455,640 (GRCm39) |
V9A |
probably benign |
Het |
Vmn1r21 |
T |
A |
6: 57,821,199 (GRCm39) |
I82L |
probably benign |
Het |
Vmn2r103 |
T |
A |
17: 20,019,511 (GRCm39) |
C532S |
probably damaging |
Het |
Vmn2r76 |
T |
C |
7: 85,879,271 (GRCm39) |
N343S |
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,951,785 (GRCm39) |
K665E |
probably damaging |
Het |
Xpc |
T |
A |
6: 91,469,287 (GRCm39) |
N820I |
probably damaging |
Het |
Zfp418 |
A |
G |
7: 7,184,873 (GRCm39) |
T279A |
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 |
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 |
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'- TGGAAGAAAGCTGCCTATGC -3'
(R):5'- TCCAGTTGGCATTGCTGTTC -3'
Sequencing Primer
(F):5'- GAAAGCTGCCTATGCTTCTATAC -3'
(R):5'- ATTGCTGTTCTTGTTTTCACTCAAG -3'
|
Posted On |
2020-01-23 |