Incidental Mutation 'IGL01845:Gabbr1'
ID |
178219 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gabbr1
|
Ensembl Gene |
ENSMUSG00000024462 |
Gene Name |
gamma-aminobutyric acid type B receptor subunit 1 |
Synonyms |
GABAB1, GABAbR1 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
IGL01845
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 37359306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172789]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
[ENSMUST00000174456]
|
AlphaFold |
Q9WV18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025338
|
SMART Domains |
Protein: ENSMUSP00000025338 Gene: ENSMUSG00000024462
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 |
probably benign
Transcript: ENSMUST00000172789
|
SMART Domains |
Protein: ENSMUSP00000134580 Gene: ENSMUSG00000024462
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172792
|
SMART Domains |
Protein: ENSMUSP00000134268 Gene: ENSMUSG00000024462
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 |
noncoding transcript
Transcript: ENSMUST00000173564
|
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 |
probably benign
Transcript: ENSMUST00000174456
|
SMART Domains |
Protein: ENSMUSP00000134409 Gene: ENSMUSG00000024462
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174826
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
T |
C |
17: 15,164,380 (GRCm39) |
L169P |
probably damaging |
Het |
4933405L10Rik |
C |
A |
8: 106,435,567 (GRCm39) |
A75E |
probably benign |
Het |
Abca1 |
A |
G |
4: 53,090,297 (GRCm39) |
L384P |
probably damaging |
Het |
Acox2 |
C |
A |
14: 8,251,617 (GRCm38) |
M293I |
probably damaging |
Het |
Acp6 |
A |
G |
3: 97,081,123 (GRCm39) |
S288G |
probably benign |
Het |
Arhgef12 |
T |
A |
9: 42,934,137 (GRCm39) |
H127L |
possibly damaging |
Het |
Arid2 |
T |
G |
15: 96,254,678 (GRCm39) |
F175V |
probably damaging |
Het |
Ccdc15 |
G |
A |
9: 37,226,532 (GRCm39) |
Q468* |
probably null |
Het |
Ccdc93 |
T |
C |
1: 121,390,859 (GRCm39) |
I277T |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,825,586 (GRCm39) |
|
probably benign |
Het |
Cdipt |
T |
C |
7: 126,578,725 (GRCm39) |
S145P |
possibly damaging |
Het |
Cfap206 |
T |
C |
4: 34,719,610 (GRCm39) |
N268S |
possibly damaging |
Het |
Clcn3 |
A |
T |
8: 61,366,129 (GRCm39) |
N814K |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,724,293 (GRCm39) |
D2019G |
probably damaging |
Het |
Corin |
C |
A |
5: 72,511,282 (GRCm39) |
G432C |
probably damaging |
Het |
Crppa |
A |
G |
12: 36,597,918 (GRCm39) |
R350G |
probably benign |
Het |
Cyld |
C |
T |
8: 89,432,403 (GRCm39) |
Q134* |
probably null |
Het |
Dhh |
C |
A |
15: 98,795,864 (GRCm39) |
R97L |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,449,315 (GRCm39) |
V4239A |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,599,692 (GRCm39) |
I296V |
probably benign |
Het |
Gbp10 |
T |
C |
5: 105,367,815 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
A |
7: 127,711,644 (GRCm39) |
L753Q |
probably damaging |
Het |
Kbtbd12 |
A |
G |
6: 88,590,922 (GRCm39) |
V430A |
probably benign |
Het |
Kdm4a |
A |
G |
4: 118,017,656 (GRCm39) |
V470A |
possibly damaging |
Het |
Larp1b |
A |
T |
3: 40,924,960 (GRCm39) |
T146S |
probably benign |
Het |
Lrrfip2 |
T |
A |
9: 111,028,728 (GRCm39) |
|
probably benign |
Het |
Mier2 |
A |
T |
10: 79,385,418 (GRCm39) |
C137S |
possibly damaging |
Het |
Morc3 |
A |
G |
16: 93,657,455 (GRCm39) |
Y393C |
probably damaging |
Het |
Ms4a7 |
A |
T |
19: 11,299,751 (GRCm39) |
M217K |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,696,191 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,083,860 (GRCm39) |
E1546G |
probably benign |
Het |
Nlgn2 |
A |
G |
11: 69,716,675 (GRCm39) |
L622P |
possibly damaging |
Het |
Oga |
T |
A |
19: 45,756,301 (GRCm39) |
E447D |
probably benign |
Het |
Or10q3 |
A |
G |
19: 11,847,888 (GRCm39) |
S231P |
probably benign |
Het |
Or1e33 |
A |
G |
11: 73,738,298 (GRCm39) |
Y218H |
probably damaging |
Het |
Or1j11 |
A |
C |
2: 36,312,105 (GRCm39) |
K232Q |
probably benign |
Het |
Or56b1b |
T |
A |
7: 108,164,343 (GRCm39) |
I220L |
possibly damaging |
Het |
Or5k17 |
T |
C |
16: 58,746,929 (GRCm39) |
M2V |
probably benign |
Het |
Phf20 |
C |
A |
2: 156,118,577 (GRCm39) |
S427* |
probably null |
Het |
Pirt |
G |
A |
11: 66,816,794 (GRCm39) |
S35N |
probably damaging |
Het |
Prss28 |
C |
A |
17: 25,529,011 (GRCm39) |
N117K |
possibly damaging |
Het |
Rbbp8nl |
A |
G |
2: 179,925,104 (GRCm39) |
C34R |
probably damaging |
Het |
Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
Sema5a |
T |
C |
15: 32,474,514 (GRCm39) |
|
probably benign |
Het |
Sh3bp2 |
T |
A |
5: 34,713,347 (GRCm39) |
L196Q |
probably damaging |
Het |
Slc26a9 |
G |
T |
1: 131,685,256 (GRCm39) |
D325Y |
probably damaging |
Het |
Slc4a1 |
A |
G |
11: 102,244,729 (GRCm39) |
V622A |
probably benign |
Het |
Thbd |
A |
G |
2: 148,249,016 (GRCm39) |
V284A |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,251,733 (GRCm39) |
F609L |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,695,576 (GRCm39) |
|
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,163,177 (GRCm39) |
Y881* |
probably null |
Het |
Ttc41 |
A |
T |
10: 86,612,488 (GRCm39) |
T1254S |
probably benign |
Het |
Ttn |
C |
T |
2: 76,640,347 (GRCm39) |
D13754N |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,511,762 (GRCm39) |
F656L |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,382,709 (GRCm39) |
I478V |
probably damaging |
Het |
Zan |
T |
C |
5: 137,379,116 (GRCm39) |
|
probably benign |
Het |
Zp2 |
T |
A |
7: 119,737,414 (GRCm39) |
D258V |
probably damaging |
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 |
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 |
R5485:Gabbr1
|
UTSW |
17 |
37,367,767 (GRCm39) |
missense |
possibly damaging |
0.83 |
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 |
|
Posted On |
2014-05-07 |