Incidental Mutation 'IGL02989:Gabrr3'
| ID |
406862 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gabrr3
|
| Ensembl Gene |
ENSMUSG00000074991 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL02989
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
59227745-59282102 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59268371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 328
(D328V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114341]
|
| AlphaFold |
B2RXA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114341
AA Change: D328V
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: D328V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
57 |
264 |
3.8e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
271 |
426 |
8.6e-31 |
PFAM |
|
transmembrane domain
|
446 |
463 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine as homo- or hetero-pentamers to form GABA(C) receptors. In humans, some individuals contain a single-base polymorphism (dbSNP rs832032) that is predicted to inactivate the gene product. [provided by RefSeq, Jan 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a1 |
T |
A |
19: 20,617,422 (GRCm39) |
|
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,670,748 (GRCm39) |
D44G |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,231,580 (GRCm39) |
*1500R |
probably null |
Het |
| Arid1b |
A |
G |
17: 5,385,322 (GRCm39) |
Y1413C |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,616,252 (GRCm39) |
|
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
| Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,443 (GRCm39) |
R712W |
possibly damaging |
Het |
| Clpb |
T |
C |
7: 101,428,427 (GRCm39) |
S396P |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,339,813 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
G |
A |
3: 88,837,878 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,150,563 (GRCm39) |
F1355C |
probably benign |
Het |
| Faim2 |
A |
G |
15: 99,418,243 (GRCm39) |
|
probably benign |
Het |
| Fancg |
A |
G |
4: 43,007,121 (GRCm39) |
|
probably benign |
Het |
| Fbxo42 |
T |
A |
4: 140,926,845 (GRCm39) |
I375N |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,107 (GRCm39) |
D26V |
probably damaging |
Het |
| Gm6563 |
T |
C |
19: 23,653,234 (GRCm39) |
L8P |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,019 (GRCm39) |
N815D |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,146,125 (GRCm39) |
I134V |
probably benign |
Het |
| Idh2 |
T |
A |
7: 79,748,856 (GRCm39) |
I142F |
probably damaging |
Het |
| Kcnh7 |
A |
C |
2: 62,552,269 (GRCm39) |
N907K |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,306,894 (GRCm39) |
T336A |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,760,048 (GRCm39) |
S204T |
possibly damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,651 (GRCm39) |
S175P |
possibly damaging |
Het |
| Or5b3 |
C |
A |
19: 13,388,850 (GRCm39) |
Q306K |
probably benign |
Het |
| Pilrb1 |
C |
A |
5: 137,855,492 (GRCm39) |
R133L |
possibly damaging |
Het |
| Pitpnm3 |
C |
A |
11: 72,011,012 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
C |
T |
16: 15,617,880 (GRCm39) |
T3237I |
possibly damaging |
Het |
| Pspc1 |
A |
G |
14: 57,009,153 (GRCm39) |
|
probably benign |
Het |
| Rasgrp4 |
G |
A |
7: 28,847,831 (GRCm39) |
E414K |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,463 (GRCm39) |
L82Q |
probably damaging |
Het |
| Sh3gl3 |
T |
C |
7: 81,923,087 (GRCm39) |
V117A |
probably benign |
Het |
| Shisa5 |
G |
A |
9: 108,885,062 (GRCm39) |
A112T |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,634,820 (GRCm39) |
H662Q |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,126,941 (GRCm39) |
E401G |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,341 (GRCm39) |
M940T |
probably benign |
Het |
| Vmn1r129 |
A |
T |
7: 21,094,663 (GRCm39) |
V185E |
probably damaging |
Het |
| Zfp982 |
C |
A |
4: 147,597,052 (GRCm39) |
D136E |
possibly damaging |
Het |
|
| Other mutations in Gabrr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02816:Gabrr3
|
APN |
16 |
59,260,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL03048:Gabrr3
|
UTSW |
16 |
59,250,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4791001:Gabrr3
|
UTSW |
16 |
59,250,298 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0368:Gabrr3
|
UTSW |
16 |
59,260,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0976:Gabrr3
|
UTSW |
16 |
59,281,887 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1104:Gabrr3
|
UTSW |
16 |
59,281,998 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1231:Gabrr3
|
UTSW |
16 |
59,281,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1556:Gabrr3
|
UTSW |
16 |
59,281,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2181:Gabrr3
|
UTSW |
16 |
59,268,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2185:Gabrr3
|
UTSW |
16 |
59,255,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2336:Gabrr3
|
UTSW |
16 |
59,250,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3941:Gabrr3
|
UTSW |
16 |
59,253,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Gabrr3
|
UTSW |
16 |
59,282,001 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4747:Gabrr3
|
UTSW |
16 |
59,268,277 (GRCm39) |
splice site |
probably null |
|
|
R4786:Gabrr3
|
UTSW |
16 |
59,250,463 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4845:Gabrr3
|
UTSW |
16 |
59,246,833 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5539:Gabrr3
|
UTSW |
16 |
59,281,758 (GRCm39) |
missense |
probably benign |
|
|
R5543:Gabrr3
|
UTSW |
16 |
59,253,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Gabrr3
|
UTSW |
16 |
59,254,931 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6211:Gabrr3
|
UTSW |
16 |
59,268,471 (GRCm39) |
missense |
probably benign |
|
|
R7338:Gabrr3
|
UTSW |
16 |
59,268,439 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7456:Gabrr3
|
UTSW |
16 |
59,227,853 (GRCm39) |
nonsense |
probably null |
|
|
R8673:Gabrr3
|
UTSW |
16 |
59,235,633 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9001:Gabrr3
|
UTSW |
16 |
59,282,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9139:Gabrr3
|
UTSW |
16 |
59,227,830 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9378:Gabrr3
|
UTSW |
16 |
59,282,037 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Gabrr3
|
UTSW |
16 |
59,227,845 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation