Incidental Mutation 'IGL03084:Gabrg3'
ID |
417993 |
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 # |
IGL03084
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
56366213-57036936 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 56384812 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 250
(S250G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068911]
|
AlphaFold |
P27681 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068911
AA Change: S250G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000067632 Gene: ENSMUSG00000055026 AA Change: S250G
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
T |
8: 111,768,261 (GRCm39) |
V211L |
probably damaging |
Het |
BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,860,285 (GRCm39) |
D1285E |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,499,944 (GRCm39) |
T147A |
probably benign |
Het |
Cdc14a |
A |
G |
3: 116,142,101 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
T |
A |
1: 139,708,880 (GRCm39) |
L9F |
possibly damaging |
Het |
Chd1 |
A |
G |
17: 15,990,560 (GRCm39) |
H1704R |
probably benign |
Het |
Dmkn |
T |
G |
7: 30,470,481 (GRCm39) |
N367K |
possibly damaging |
Het |
Fam151b |
C |
A |
13: 92,604,534 (GRCm39) |
D152Y |
probably damaging |
Het |
Gm28042 |
A |
G |
2: 119,870,986 (GRCm39) |
Q833R |
probably benign |
Het |
Gnpat |
A |
C |
8: 125,605,638 (GRCm39) |
Y336S |
probably damaging |
Het |
Ighv1-54 |
G |
A |
12: 115,157,736 (GRCm39) |
|
probably benign |
Het |
Irag1 |
A |
G |
7: 110,485,036 (GRCm39) |
|
probably benign |
Het |
Kif2c |
T |
C |
4: 117,035,355 (GRCm39) |
N31S |
possibly damaging |
Het |
Larp1 |
T |
A |
11: 57,947,921 (GRCm39) |
L939Q |
probably damaging |
Het |
Lrrc69 |
G |
A |
4: 14,708,631 (GRCm39) |
P238S |
probably damaging |
Het |
Lypd10 |
T |
C |
7: 24,413,605 (GRCm39) |
I207T |
possibly damaging |
Het |
Lztfl1 |
C |
T |
9: 123,538,641 (GRCm39) |
G152E |
probably damaging |
Het |
Man2a2 |
T |
C |
7: 80,002,691 (GRCm39) |
T1097A |
possibly damaging |
Het |
Myh4 |
A |
G |
11: 67,142,777 (GRCm39) |
|
probably null |
Het |
Nab2 |
C |
T |
10: 127,500,346 (GRCm39) |
V249M |
probably damaging |
Het |
Nid2 |
A |
T |
14: 19,819,000 (GRCm39) |
D498V |
probably benign |
Het |
Nrap |
T |
C |
19: 56,353,886 (GRCm39) |
T404A |
probably damaging |
Het |
Or51i1 |
A |
G |
7: 103,670,838 (GRCm39) |
V229A |
probably benign |
Het |
Or5al7 |
A |
T |
2: 85,992,569 (GRCm39) |
C241* |
probably null |
Het |
Or5c1 |
T |
C |
2: 37,222,413 (GRCm39) |
I218T |
probably damaging |
Het |
Or8c9 |
T |
G |
9: 38,241,513 (GRCm39) |
I210S |
probably damaging |
Het |
Pard3 |
A |
G |
8: 128,319,573 (GRCm39) |
I1104V |
probably damaging |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Ppfia3 |
A |
G |
7: 44,989,651 (GRCm39) |
V1187A |
probably benign |
Het |
Ppp1r16b |
G |
A |
2: 158,603,413 (GRCm39) |
W346* |
probably null |
Het |
Rpl4 |
A |
G |
9: 64,085,599 (GRCm39) |
|
probably benign |
Het |
Scn8a |
A |
T |
15: 100,915,053 (GRCm39) |
I1206F |
probably damaging |
Het |
Slc5a2 |
T |
C |
7: 127,865,776 (GRCm39) |
S61P |
probably benign |
Het |
Smarcal1 |
T |
C |
1: 72,638,094 (GRCm39) |
|
probably null |
Het |
Smyd4 |
A |
G |
11: 75,281,433 (GRCm39) |
H302R |
probably benign |
Het |
Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
Stx8 |
C |
T |
11: 67,911,782 (GRCm39) |
Q167* |
probably null |
Het |
Sycp2 |
C |
A |
2: 178,033,584 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,626,742 (GRCm39) |
V13088D |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,074,243 (GRCm39) |
M39L |
probably benign |
Het |
Utp6 |
A |
T |
11: 79,853,042 (GRCm39) |
|
probably null |
Het |
Vmn1r189 |
A |
T |
13: 22,286,008 (GRCm39) |
Y276* |
probably null |
Het |
Vmn2r11 |
T |
A |
5: 109,207,209 (GRCm39) |
D37V |
probably benign |
Het |
Vmn2r16 |
T |
G |
5: 109,478,292 (GRCm39) |
F16V |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,592,354 (GRCm39) |
M538K |
probably damaging |
Het |
Zfp143 |
T |
A |
7: 109,668,818 (GRCm39) |
|
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 |
|
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 |
2016-08-02 |