Incidental Mutation 'IGL03048:Gabrr3'
| ID |
391834 |
| Institutional Source |
Beutler Lab
|
| 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: 0.099)
|
| Stock # |
IGL03048 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59227745-59282102 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59250493 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 164
(H164R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114341]
|
| AlphaFold |
B2RXA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114341
AA Change: H164R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: H164R
| 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 |
|
| Meta Mutation Damage Score |
0.0780 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,868,711 (GRCm39) |
|
probably null |
Het |
| Anapc4 |
C |
T |
5: 52,997,075 (GRCm39) |
T116I |
probably benign |
Het |
| Arhgap45 |
C |
T |
10: 79,852,851 (GRCm39) |
R14C |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,913,560 (GRCm39) |
|
probably null |
Het |
| Ccdc166 |
T |
A |
15: 75,854,050 (GRCm39) |
N10I |
possibly damaging |
Het |
| Chd1l |
T |
C |
3: 97,505,079 (GRCm39) |
S163G |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,737,970 (GRCm39) |
V576A |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,339 (GRCm39) |
T162A |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,180,722 (GRCm39) |
I200F |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,720,866 (GRCm39) |
E1713G |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,198 (GRCm39) |
T220S |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,739 (GRCm39) |
L130P |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,484,545 (GRCm39) |
T228A |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,094 (GRCm39) |
A608V |
probably benign |
Het |
| Foxp4 |
A |
T |
17: 48,191,765 (GRCm39) |
M124K |
unknown |
Het |
| Gapdhrt |
T |
A |
14: 11,281,873 (GRCm38) |
I21F |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,783,332 (GRCm39) |
C134Y |
probably damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,332 (GRCm39) |
V79I |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,666,109 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,459,084 (GRCm39) |
R229K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,630,847 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,317,922 (GRCm39) |
R1137G |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,092,881 (GRCm39) |
|
noncoding transcript |
Het |
| Oasl1 |
T |
A |
5: 115,075,400 (GRCm39) |
S487T |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,064 (GRCm39) |
I91T |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,630,245 (GRCm39) |
V11L |
possibly damaging |
Het |
| Or1e26 |
G |
C |
11: 73,479,831 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,065 (GRCm39) |
F101L |
probably benign |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,181 (GRCm39) |
D147E |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,552 (GRCm39) |
K711E |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,214 (GRCm39) |
N734S |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,727,990 (GRCm39) |
L4P |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,837,680 (GRCm39) |
Y101C |
probably damaging |
Het |
| Tmem129 |
A |
G |
5: 33,812,811 (GRCm39) |
V179A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,587,521 (GRCm39) |
M174K |
probably benign |
Het |
| Vmn2r13 |
G |
A |
5: 109,304,151 (GRCm39) |
A760V |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,460 (GRCm39) |
I820F |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,938,604 (GRCm39) |
M1093V |
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 |
|
|
IGL02989:Gabrr3
|
APN |
16 |
59,268,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCAGGACTTTACCATGAC -3'
(R):5'- ACATACGCTGTGTGGTATTGC -3'
Sequencing Primer
(F):5'- CGTTTTACCTCAGGCACTATTGGAAG -3'
(R):5'- ATTGCAGTCTTCAGCATCATGG -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation