Incidental Mutation 'R5539:Gabrr3'
ID |
435845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabrr3
|
Ensembl Gene |
ENSMUSG00000074991 |
Gene Name |
gamma-aminobutyric acid type A receptor subunit rho 3 |
Synonyms |
|
MMRRC Submission |
043097-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R5539 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
59227745-59282102 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59281758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 371
(H371L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114341]
|
AlphaFold |
B2RXA8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000114341
AA Change: H371L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109980 Gene: ENSMUSG00000074991 AA Change: H371L
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
A |
T |
16: 88,555,917 (GRCm39) |
S44C |
probably damaging |
Het |
Abca4 |
A |
G |
3: 121,963,557 (GRCm39) |
I846V |
probably damaging |
Het |
Aldh4a1 |
T |
C |
4: 139,365,833 (GRCm39) |
S275P |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,111,932 (GRCm39) |
L144H |
probably benign |
Het |
Ccdc141 |
A |
T |
2: 76,845,437 (GRCm39) |
I1210N |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,191,587 (GRCm39) |
T330A |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,964,486 (GRCm39) |
K2444E |
probably benign |
Het |
Dnajc3 |
G |
A |
14: 119,208,159 (GRCm39) |
V265M |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,127,753 (GRCm39) |
Y2222N |
unknown |
Het |
Flnc |
G |
T |
6: 29,446,229 (GRCm39) |
G882V |
probably damaging |
Het |
Fndc5 |
T |
A |
4: 129,032,514 (GRCm39) |
V39D |
probably damaging |
Het |
Gm10717 |
A |
T |
9: 3,030,438 (GRCm39) |
H33L |
probably damaging |
Het |
Gm5422 |
A |
G |
10: 31,124,646 (GRCm39) |
|
noncoding transcript |
Het |
Kri1 |
G |
A |
9: 21,190,668 (GRCm39) |
Q280* |
probably null |
Het |
Lcp1 |
T |
C |
14: 75,466,738 (GRCm39) |
V615A |
probably benign |
Het |
Ltbp4 |
T |
C |
7: 27,027,149 (GRCm39) |
Y407C |
probably damaging |
Het |
Med30 |
G |
T |
15: 52,584,462 (GRCm39) |
D127Y |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,164,317 (GRCm39) |
V416A |
probably benign |
Het |
Notch2 |
C |
T |
3: 98,044,898 (GRCm39) |
R1607C |
probably damaging |
Het |
Nr4a3 |
T |
A |
4: 48,056,525 (GRCm39) |
|
probably null |
Het |
Ntf5 |
G |
T |
7: 45,065,354 (GRCm39) |
R162L |
probably benign |
Het |
Nxpe3 |
A |
G |
16: 55,711,034 (GRCm39) |
W2R |
possibly damaging |
Het |
Or10d1c |
T |
C |
9: 38,893,573 (GRCm39) |
I256V |
possibly damaging |
Het |
Or14j4 |
T |
A |
17: 37,921,646 (GRCm39) |
M1L |
probably benign |
Het |
Or1m1 |
G |
A |
9: 18,666,134 (GRCm39) |
R266C |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,433 (GRCm39) |
C115S |
probably benign |
Het |
Pan2 |
C |
A |
10: 128,144,002 (GRCm39) |
D99E |
probably benign |
Het |
Pcdh12 |
T |
C |
18: 38,414,797 (GRCm39) |
H776R |
possibly damaging |
Het |
Prdm2 |
T |
C |
4: 142,859,264 (GRCm39) |
H1342R |
possibly damaging |
Het |
Prpf8 |
A |
G |
11: 75,394,464 (GRCm39) |
T1800A |
probably benign |
Het |
Prss40 |
T |
C |
1: 34,591,760 (GRCm39) |
*148W |
probably null |
Het |
Pygo1 |
C |
T |
9: 72,852,061 (GRCm39) |
P83S |
probably damaging |
Het |
Raf1 |
G |
T |
6: 115,596,317 (GRCm39) |
S619R |
probably damaging |
Het |
Rtf1 |
A |
G |
2: 119,560,405 (GRCm39) |
M596V |
possibly damaging |
Het |
Slc12a5 |
T |
A |
2: 164,829,126 (GRCm39) |
D578E |
possibly damaging |
Het |
Slc35b4 |
A |
G |
6: 34,153,737 (GRCm39) |
V18A |
probably damaging |
Het |
Spata31 |
T |
A |
13: 65,070,783 (GRCm39) |
I977K |
probably benign |
Het |
Tor2a |
T |
C |
2: 32,650,672 (GRCm39) |
I222T |
probably damaging |
Het |
Trim23 |
T |
C |
13: 104,334,541 (GRCm39) |
V347A |
probably damaging |
Het |
Trip11 |
A |
G |
12: 101,851,386 (GRCm39) |
S893P |
probably damaging |
Het |
Trmt10c |
G |
A |
16: 55,855,324 (GRCm39) |
P104S |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,850,877 (GRCm39) |
Y1765F |
probably damaging |
Het |
Zfp951 |
C |
T |
5: 104,962,712 (GRCm39) |
E285K |
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 |
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 |
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'- GCTCCCTAAGACAATGTTTTCTGC -3'
(R):5'- GGATGATTCTACCAACGTTTCCTC -3'
Sequencing Primer
(F):5'- TTTTTAAGTCAGGTGCCAG -3'
(R):5'- ACCAACGTTTCCTCCCAGGG -3'
|
Posted On |
2016-10-24 |