Incidental Mutation 'R5485:Gabbr1'
ID |
432546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gabbr1
|
Ensembl Gene |
ENSMUSG00000024462 |
Gene Name |
gamma-aminobutyric acid type B receptor subunit 1 |
Synonyms |
GABAB1, GABAbR1 |
MMRRC Submission |
043046-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
R5485 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37367767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 290
(S290T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
|
AlphaFold |
Q9WV18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025338
AA Change: S406T
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000025338 Gene: ENSMUSG00000024462 AA Change: S406T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
CCP
|
29 |
95 |
8.72e0 |
SMART |
CCP
|
99 |
156 |
3.03e-10 |
SMART |
Pfam:Peripla_BP_6
|
168 |
538 |
1.6e-23 |
PFAM |
Pfam:ANF_receptor
|
186 |
542 |
4.3e-73 |
PFAM |
Pfam:7tm_3
|
602 |
858 |
9.8e-49 |
PFAM |
coiled coil region
|
877 |
922 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172792
AA Change: S290T
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134268 Gene: ENSMUSG00000024462 AA Change: S290T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
Pfam:Peripla_BP_6
|
52 |
428 |
7.8e-24 |
PFAM |
Pfam:ANF_receptor
|
70 |
426 |
5.7e-68 |
PFAM |
Pfam:7tm_3
|
484 |
743 |
1.1e-50 |
PFAM |
coiled coil region
|
761 |
806 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173823
|
SMART Domains |
Protein: ENSMUSP00000133797 Gene: ENSMUSG00000024462
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:Sushi
|
29 |
95 |
1.6e-6 |
PFAM |
low complexity region
|
159 |
176 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174347
|
SMART Domains |
Protein: ENSMUSP00000134346 Gene: ENSMUSG00000024462
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
low complexity region
|
30 |
51 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
102 |
213 |
1e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174866
|
Meta Mutation Damage Score |
0.1412 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.6%
|
Validation Efficiency |
98% (59/60) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016] PHENOTYPE: Phenotypes of null mice vary depending on strain background and allele. Homozygous null mice may display seizures, premature death, and abnormal nervous system electrophysiology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
T |
11: 23,467,378 (GRCm39) |
V85D |
probably benign |
Het |
Abcb8 |
A |
G |
5: 24,605,159 (GRCm39) |
N115S |
probably benign |
Het |
Appl1 |
C |
A |
14: 26,684,823 (GRCm39) |
L75F |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,100,760 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
T |
A |
8: 120,479,801 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
A |
10: 92,864,979 (GRCm39) |
I94F |
probably damaging |
Het |
Clasp1 |
A |
G |
1: 118,395,643 (GRCm39) |
I194V |
possibly damaging |
Het |
Crebbp |
A |
C |
16: 3,932,777 (GRCm39) |
D1000E |
probably benign |
Het |
Ctdnep1 |
C |
T |
11: 69,872,316 (GRCm39) |
R3W |
possibly damaging |
Het |
Dgkb |
T |
C |
12: 38,177,363 (GRCm39) |
V230A |
probably damaging |
Het |
Duoxa2 |
T |
C |
2: 122,129,633 (GRCm39) |
F38L |
possibly damaging |
Het |
Ecd |
T |
C |
14: 20,388,273 (GRCm39) |
S172G |
probably benign |
Het |
Endog |
G |
T |
2: 30,061,663 (GRCm39) |
|
probably benign |
Het |
Eqtn |
G |
A |
4: 94,813,193 (GRCm39) |
P131L |
possibly damaging |
Het |
Glt8d2 |
T |
A |
10: 82,487,282 (GRCm39) |
R319S |
possibly damaging |
Het |
Gm16686 |
A |
G |
4: 88,673,641 (GRCm39) |
|
probably benign |
Het |
Gm5709 |
A |
T |
3: 59,542,983 (GRCm39) |
|
noncoding transcript |
Het |
Gm7381 |
T |
C |
8: 3,892,161 (GRCm39) |
|
noncoding transcript |
Het |
Gorab |
T |
G |
1: 163,213,871 (GRCm39) |
D353A |
possibly damaging |
Het |
Gstm1 |
A |
G |
3: 107,924,720 (GRCm39) |
L20P |
probably damaging |
Het |
Hexim2 |
A |
G |
11: 103,029,884 (GRCm39) |
D312G |
probably benign |
Het |
Hfm1 |
A |
G |
5: 106,995,528 (GRCm39) |
|
probably null |
Het |
Mbd4 |
C |
A |
6: 115,827,679 (GRCm39) |
A66S |
probably benign |
Het |
Mmp27 |
T |
A |
9: 7,573,363 (GRCm39) |
W152R |
probably damaging |
Het |
Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
Mrps18b |
A |
T |
17: 36,225,236 (GRCm39) |
V102D |
probably damaging |
Het |
Or10g3b |
A |
T |
14: 52,586,776 (GRCm39) |
C242* |
probably null |
Het |
Peg10 |
T |
A |
6: 4,755,565 (GRCm39) |
M47K |
probably benign |
Het |
Plxnc1 |
T |
G |
10: 94,758,604 (GRCm39) |
Q364P |
probably benign |
Het |
Psd |
A |
T |
19: 46,304,528 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
G |
1: 22,522,289 (GRCm39) |
I470L |
possibly damaging |
Het |
Sbsn |
T |
C |
7: 30,452,542 (GRCm39) |
V519A |
possibly damaging |
Het |
Senp1 |
A |
G |
15: 97,964,377 (GRCm39) |
V279A |
probably benign |
Het |
Sfxn5 |
T |
A |
6: 85,309,582 (GRCm39) |
|
probably benign |
Het |
Slc6a13 |
T |
A |
6: 121,313,032 (GRCm39) |
M483K |
probably damaging |
Het |
Slc6a21 |
G |
A |
7: 44,931,966 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
T |
C |
1: 97,053,481 (GRCm39) |
Y140C |
probably damaging |
Het |
Spata32 |
A |
G |
11: 103,100,122 (GRCm39) |
S128P |
probably damaging |
Het |
Spty2d1 |
G |
T |
7: 46,647,633 (GRCm39) |
T432K |
possibly damaging |
Het |
Stx8 |
A |
G |
11: 67,911,792 (GRCm39) |
Q170R |
probably benign |
Het |
Sytl3 |
G |
A |
17: 6,982,879 (GRCm39) |
V112I |
probably benign |
Het |
Tdrkh |
A |
G |
3: 94,336,019 (GRCm39) |
I420V |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,992,711 (GRCm39) |
V457A |
probably benign |
Het |
Tpk1 |
T |
C |
6: 43,642,746 (GRCm39) |
|
probably benign |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Tsen54 |
A |
G |
11: 115,706,048 (GRCm39) |
E90G |
probably benign |
Het |
Ugt1a2 |
A |
T |
1: 88,128,968 (GRCm39) |
M204L |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,567,972 (GRCm39) |
I32F |
probably benign |
Het |
Xkr6 |
T |
C |
14: 64,056,833 (GRCm39) |
V248A |
unknown |
Het |
Zfhx4 |
C |
A |
3: 5,308,067 (GRCm39) |
S431Y |
probably damaging |
Het |
Zfp318 |
T |
A |
17: 46,723,180 (GRCm39) |
S1728T |
possibly damaging |
Het |
Zfp563 |
T |
C |
17: 33,308,540 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gabbr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Gabbr1
|
APN |
17 |
37,359,335 (GRCm39) |
nonsense |
probably null |
|
IGL01309:Gabbr1
|
APN |
17 |
37,359,499 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01413:Gabbr1
|
APN |
17 |
37,373,598 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01568:Gabbr1
|
APN |
17 |
37,381,561 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01845:Gabbr1
|
APN |
17 |
37,359,306 (GRCm39) |
splice site |
probably benign |
|
IGL02083:Gabbr1
|
APN |
17 |
37,380,957 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02302:Gabbr1
|
APN |
17 |
37,365,689 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02430:Gabbr1
|
APN |
17 |
37,367,200 (GRCm39) |
nonsense |
probably null |
|
IGL02533:Gabbr1
|
APN |
17 |
37,383,039 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Gabbr1
|
APN |
17 |
37,373,654 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Gabbr1
|
UTSW |
17 |
37,382,841 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4449001:Gabbr1
|
UTSW |
17 |
37,367,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Gabbr1
|
UTSW |
17 |
37,378,102 (GRCm39) |
intron |
probably benign |
|
R0420:Gabbr1
|
UTSW |
17 |
37,357,654 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0464:Gabbr1
|
UTSW |
17 |
37,361,726 (GRCm39) |
unclassified |
probably benign |
|
R1306:Gabbr1
|
UTSW |
17 |
37,366,882 (GRCm39) |
splice site |
probably null |
|
R1412:Gabbr1
|
UTSW |
17 |
37,365,805 (GRCm39) |
splice site |
probably null |
|
R1495:Gabbr1
|
UTSW |
17 |
37,366,832 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1612:Gabbr1
|
UTSW |
17 |
37,381,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1658:Gabbr1
|
UTSW |
17 |
37,358,399 (GRCm39) |
missense |
probably damaging |
0.96 |
R1763:Gabbr1
|
UTSW |
17 |
37,365,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Gabbr1
|
UTSW |
17 |
37,365,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Gabbr1
|
UTSW |
17 |
37,359,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R1996:Gabbr1
|
UTSW |
17 |
37,380,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R2014:Gabbr1
|
UTSW |
17 |
37,367,674 (GRCm39) |
splice site |
probably null |
|
R2255:Gabbr1
|
UTSW |
17 |
37,382,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R4299:Gabbr1
|
UTSW |
17 |
37,366,792 (GRCm39) |
nonsense |
probably null |
|
R4458:Gabbr1
|
UTSW |
17 |
37,378,667 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4510:Gabbr1
|
UTSW |
17 |
37,380,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R4511:Gabbr1
|
UTSW |
17 |
37,380,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R4571:Gabbr1
|
UTSW |
17 |
37,365,128 (GRCm39) |
nonsense |
probably null |
|
R4597:Gabbr1
|
UTSW |
17 |
37,367,791 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5109:Gabbr1
|
UTSW |
17 |
37,382,920 (GRCm39) |
intron |
probably benign |
|
R5119:Gabbr1
|
UTSW |
17 |
37,359,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R5227:Gabbr1
|
UTSW |
17 |
37,380,958 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5253:Gabbr1
|
UTSW |
17 |
37,366,805 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5443:Gabbr1
|
UTSW |
17 |
37,381,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Gabbr1
|
UTSW |
17 |
37,378,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R5976:Gabbr1
|
UTSW |
17 |
37,378,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:Gabbr1
|
UTSW |
17 |
37,359,319 (GRCm39) |
missense |
probably benign |
0.01 |
R6167:Gabbr1
|
UTSW |
17 |
37,374,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R6214:Gabbr1
|
UTSW |
17 |
37,380,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6215:Gabbr1
|
UTSW |
17 |
37,380,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6348:Gabbr1
|
UTSW |
17 |
37,367,791 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6721:Gabbr1
|
UTSW |
17 |
37,365,084 (GRCm39) |
missense |
probably damaging |
0.98 |
R7028:Gabbr1
|
UTSW |
17 |
37,375,629 (GRCm39) |
nonsense |
probably null |
|
R7317:Gabbr1
|
UTSW |
17 |
37,380,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7786:Gabbr1
|
UTSW |
17 |
37,380,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R7793:Gabbr1
|
UTSW |
17 |
37,358,393 (GRCm39) |
missense |
probably benign |
0.13 |
R7833:Gabbr1
|
UTSW |
17 |
37,367,861 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8110:Gabbr1
|
UTSW |
17 |
37,359,475 (GRCm39) |
missense |
probably benign |
0.10 |
R8318:Gabbr1
|
UTSW |
17 |
37,373,435 (GRCm39) |
missense |
probably benign |
0.23 |
R8774:Gabbr1
|
UTSW |
17 |
37,382,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774-TAIL:Gabbr1
|
UTSW |
17 |
37,382,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R8890:Gabbr1
|
UTSW |
17 |
37,358,436 (GRCm39) |
missense |
probably benign |
0.02 |
R9144:Gabbr1
|
UTSW |
17 |
37,362,049 (GRCm39) |
missense |
probably benign |
|
R9292:Gabbr1
|
UTSW |
17 |
37,366,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9359:Gabbr1
|
UTSW |
17 |
37,381,605 (GRCm39) |
missense |
probably damaging |
1.00 |
X0010:Gabbr1
|
UTSW |
17 |
37,381,672 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Gabbr1
|
UTSW |
17 |
37,359,316 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGATCTTTGATTCTTAAGGGAC -3'
(R):5'- TGACGCAAACAAGCTCAAGATG -3'
Sequencing Primer
(F):5'- TCTTTGATTCTTAAGGGACTAAACAG -3'
(R):5'- CTCAAGATGGGTACAGGCC -3'
|
Posted On |
2016-10-05 |