Incidental Mutation 'IGL02707:Gabrg3'
| ID |
304407 |
| 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 # |
IGL02707
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 56632439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 170
(E170*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
| AlphaFold |
P27681 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068911
AA Change: E170*
|
| SMART Domains |
Protein: ENSMUSP00000067632
Gene: ENSMUSG00000055026
AA Change: E170*
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,928 (GRCm39) |
T149A |
probably benign |
Het |
| 4932414N04Rik |
A |
C |
2: 68,561,474 (GRCm39) |
Q267P |
possibly damaging |
Het |
| Actr5 |
T |
C |
2: 158,478,617 (GRCm39) |
V489A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,972,895 (GRCm39) |
|
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,290,567 (GRCm39) |
N509S |
probably benign |
Het |
| Arhgap22 |
C |
T |
14: 33,085,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap9 |
C |
A |
10: 127,165,476 (GRCm39) |
H628Q |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,001,123 (GRCm39) |
I486N |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,558,787 (GRCm39) |
|
probably benign |
Het |
| Avil |
A |
G |
10: 126,842,431 (GRCm39) |
D70G |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,645,780 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,464,180 (GRCm39) |
I717K |
probably damaging |
Het |
| Chd4 |
G |
T |
6: 125,085,730 (GRCm39) |
A875S |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,471,237 (GRCm39) |
M706K |
unknown |
Het |
| Cr1l |
T |
C |
1: 194,806,019 (GRCm39) |
T155A |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 63,339,844 (GRCm39) |
N10S |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,450,843 (GRCm39) |
V854A |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,823,091 (GRCm39) |
T845A |
possibly damaging |
Het |
| F10 |
G |
A |
8: 13,098,252 (GRCm39) |
A152T |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,968,149 (GRCm39) |
V829A |
probably benign |
Het |
| Htt |
T |
A |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
| Icam4 |
T |
C |
9: 20,941,770 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Jph1 |
A |
G |
1: 17,074,675 (GRCm39) |
S448P |
probably benign |
Het |
| Kansl1l |
G |
A |
1: 66,812,604 (GRCm39) |
L125F |
probably damaging |
Het |
| Kifc1 |
A |
T |
17: 34,100,467 (GRCm39) |
C46* |
probably null |
Het |
| Lce3b |
A |
G |
3: 92,841,193 (GRCm39) |
D96G |
unknown |
Het |
| Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
| Mctp2 |
A |
G |
7: 71,909,089 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,461,274 (GRCm39) |
I200V |
probably benign |
Het |
| Msr1 |
T |
C |
8: 40,085,870 (GRCm39) |
|
probably benign |
Het |
| Mtfr2 |
C |
T |
10: 20,224,084 (GRCm39) |
T6I |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,828,438 (GRCm39) |
|
probably benign |
Het |
| Myoc |
T |
A |
1: 162,467,029 (GRCm39) |
I66N |
probably benign |
Het |
| Or10d1b |
T |
C |
9: 39,613,937 (GRCm39) |
I43V |
probably damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,171 (GRCm39) |
Y162N |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,609 (GRCm39) |
L100W |
probably damaging |
Het |
| Or52n20 |
T |
C |
7: 104,320,136 (GRCm39) |
C76R |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,859 (GRCm39) |
C215R |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,759 (GRCm39) |
L251S |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,378,450 (GRCm39) |
D33G |
possibly damaging |
Het |
| Pknox1 |
A |
G |
17: 31,821,793 (GRCm39) |
I295V |
possibly damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhot2 |
A |
G |
17: 26,063,270 (GRCm39) |
S19P |
probably damaging |
Het |
| Rps6kb1 |
C |
A |
11: 86,426,236 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,275,648 (GRCm39) |
T194I |
probably benign |
Het |
| Smarcad1 |
T |
A |
6: 65,029,790 (GRCm39) |
|
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,428,759 (GRCm39) |
S449P |
probably benign |
Het |
| Thrb |
A |
C |
14: 18,026,721 (GRCm38) |
I275L |
probably benign |
Het |
| Tjp1 |
T |
A |
7: 64,979,431 (GRCm39) |
K365* |
probably null |
Het |
| Tjp1 |
T |
A |
7: 64,979,430 (GRCm39) |
K365I |
possibly damaging |
Het |
| Tm4sf4 |
C |
A |
3: 57,333,939 (GRCm39) |
C75* |
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Txndc16 |
T |
C |
14: 45,399,730 (GRCm39) |
T408A |
probably benign |
Het |
| Ube2j1 |
T |
C |
4: 33,038,206 (GRCm39) |
L38P |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,425 (GRCm39) |
I1044T |
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 |
|
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 |
Incidental Mutation