Incidental Mutation 'R1231:Gabrr3'
| ID |
152306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrr3
|
| Ensembl Gene |
ENSMUSG00000074991 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 3 |
| Synonyms |
|
| MMRRC Submission |
039300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1231 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59227745-59282102 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59281763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 373
(D373N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114341]
|
| AlphaFold |
B2RXA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114341
AA Change: D373N
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: D373N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185295
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.6%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
C |
T |
10: 50,699,756 (GRCm39) |
P1860S |
probably damaging |
Het |
| Cabp5 |
T |
C |
7: 13,139,350 (GRCm39) |
I125T |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,813,362 (GRCm39) |
M1522K |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,486 (GRCm39) |
H87R |
probably benign |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,010,205 (GRCm39) |
T565I |
probably benign |
Het |
| Mocos |
G |
T |
18: 24,812,758 (GRCm39) |
A551S |
probably benign |
Het |
| Mtmr9 |
A |
T |
14: 63,765,640 (GRCm39) |
N418K |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,515 (GRCm38) |
M135L |
probably benign |
Het |
| Psg16 |
T |
A |
7: 16,829,230 (GRCm39) |
Y271* |
probably null |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,347,081 (GRCm39) |
S110R |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| St8sia5 |
T |
C |
18: 77,320,502 (GRCm39) |
Y49H |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Urm1 |
G |
T |
2: 29,722,711 (GRCm39) |
A15S |
probably 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 |
|
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 |
|
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'- TCGTACTCACTCATGGCTCCTAAGG -3'
(R):5'- GATTCTACCAACGTTTCCTCCCAGG -3'
Sequencing Primer
(F):5'- AGCTCTTCAGGTTACTCAGAAC -3'
(R):5'- CCAGGGATTTCCTTTTTATCTGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation