Incidental Mutation 'R0976:Gabrr3'
| ID |
81197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabrr3
|
| Ensembl Gene |
ENSMUSG00000074991 |
| Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 3 |
| Synonyms |
|
| MMRRC Submission |
039105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R0976 (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 T
at 59281887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 414
(C414F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114341]
|
| AlphaFold |
B2RXA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114341
AA Change: C414F
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109980
Gene: ENSMUSG00000074991
AA Change: C414F
| 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: 99.8%
- 3x: 99.3%
- 10x: 97.6%
- 20x: 95.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,807,227 (GRCm39) |
I1147F |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,621 (GRCm39) |
|
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,060 (GRCm39) |
E551G |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,475,254 (GRCm39) |
L153Q |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 47,248,164 (GRCm39) |
P1190L |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,342,144 (GRCm39) |
D416V |
probably damaging |
Het |
| Cyp2c67 |
G |
T |
19: 39,631,818 (GRCm39) |
F126L |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,278 (GRCm39) |
I490V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,228,098 (GRCm39) |
|
probably null |
Het |
| Fam83f |
T |
A |
15: 80,576,285 (GRCm39) |
V312E |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,828,375 (GRCm39) |
D6724G |
possibly damaging |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| H2bc18 |
T |
A |
3: 96,177,402 (GRCm39) |
V112E |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,347,160 (GRCm39) |
K2005M |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,048,936 (GRCm39) |
N338K |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,205,760 (GRCm39) |
D39G |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,690,411 (GRCm39) |
R306S |
possibly damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,349 (GRCm39) |
R285G |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,154,144 (GRCm39) |
I591T |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,152 (GRCm39) |
L101S |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,335,236 (GRCm39) |
S517P |
probably damaging |
Het |
| Pdcd2l |
G |
T |
7: 33,895,771 (GRCm39) |
D67E |
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,683,943 (GRCm39) |
D1146E |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,136,946 (GRCm39) |
Y62N |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,148,013 (GRCm39) |
*935R |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,658,877 (GRCm39) |
F155L |
probably damaging |
Het |
| Stag1 |
G |
A |
9: 100,812,069 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
T |
7: 126,474,323 (GRCm39) |
R302Q |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,445,882 (GRCm39) |
V103A |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,349 (GRCm39) |
I79N |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,606 (GRCm39) |
T144I |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,559,343 (GRCm39) |
N622S |
possibly damaging |
Het |
| Trappc9 |
T |
A |
15: 72,871,823 (GRCm39) |
Q489L |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,108 (GRCm39) |
T677A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,104 (GRCm39) |
F292L |
probably benign |
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 |
|
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'- AGGCTCCCTAAGACAATGTTTTCTGC -3'
(R):5'- ACCACCTGACTCGAATGGAAGTCTAC -3'
Sequencing Primer
(F):5'- TTTTAAGTCAGGTGCCAGAAGC -3'
(R):5'- CATGTGTAACACCCTGAGTACTG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation