Incidental Mutation 'IGL02302:Gabbr1'
| ID |
287392 |
| 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 # |
IGL02302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37365689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 123
(R123W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025338
AA Change: R284W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: R284W
| 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 damaging
Transcript: ENSMUST00000172792
AA Change: R168W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: R168W
| 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 damaging
Transcript: ENSMUST00000174347
AA Change: R123W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: R123W
| 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
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,422,257 (GRCm39) |
Q211L |
possibly damaging |
Het |
| Abca14 |
T |
A |
7: 119,917,968 (GRCm39) |
|
probably benign |
Het |
| Abcb10 |
A |
T |
8: 124,685,411 (GRCm39) |
V543D |
possibly damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,431,057 (GRCm39) |
T909I |
probably benign |
Het |
| Arhgef3 |
A |
G |
14: 27,084,799 (GRCm39) |
N76S |
probably benign |
Het |
| Bbx |
A |
T |
16: 50,045,278 (GRCm39) |
C320S |
probably damaging |
Het |
| Castor2 |
G |
A |
5: 134,164,482 (GRCm39) |
V148I |
possibly damaging |
Het |
| Cdh23 |
C |
A |
10: 60,159,302 (GRCm39) |
V2159F |
possibly damaging |
Het |
| Cmtr2 |
G |
A |
8: 110,948,136 (GRCm39) |
A149T |
probably damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,512,535 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,709,482 (GRCm39) |
F1905I |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,428,866 (GRCm39) |
Y792C |
possibly damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,538 (GRCm39) |
V1101A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,775,776 (GRCm39) |
L573P |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
| Ear1 |
T |
G |
14: 44,056,504 (GRCm39) |
Q121H |
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,119,321 (GRCm39) |
|
probably benign |
Het |
| Ero1a |
T |
C |
14: 45,530,619 (GRCm39) |
K271R |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,348,236 (GRCm39) |
L884P |
probably damaging |
Het |
| F2r |
T |
C |
13: 95,741,160 (GRCm39) |
N125S |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,095,144 (GRCm39) |
E357G |
probably damaging |
Het |
| Gimap4 |
T |
G |
6: 48,667,347 (GRCm39) |
V34G |
probably damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,011 (GRCm38) |
V180E |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 53,972,407 (GRCm39) |
N204K |
probably damaging |
Het |
| Ighv1-84 |
T |
A |
12: 115,944,549 (GRCm39) |
K42* |
probably null |
Het |
| Kcnh7 |
T |
A |
2: 62,536,402 (GRCm39) |
Q1060L |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,158,868 (GRCm39) |
I223N |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,088,039 (GRCm39) |
P913S |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,832,841 (GRCm39) |
I334M |
probably damaging |
Het |
| Lrrc45 |
G |
T |
11: 120,609,351 (GRCm39) |
E403D |
possibly damaging |
Het |
| Mccc2 |
A |
G |
13: 100,090,747 (GRCm39) |
L462P |
probably damaging |
Het |
| Mfsd13b |
T |
C |
7: 120,598,132 (GRCm39) |
V346A |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,227,763 (GRCm39) |
T1342A |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,477,091 (GRCm39) |
N56S |
probably benign |
Het |
| Niban2 |
A |
G |
2: 32,811,135 (GRCm39) |
I382V |
probably benign |
Het |
| Ntn5 |
G |
T |
7: 45,343,672 (GRCm39) |
R337L |
probably damaging |
Het |
| Nynrin |
A |
G |
14: 56,105,962 (GRCm39) |
K894E |
probably benign |
Het |
| Or1j4 |
G |
T |
2: 36,740,715 (GRCm39) |
G219V |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,889,272 (GRCm39) |
Y272N |
probably damaging |
Het |
| Or4f56 |
A |
C |
2: 111,703,887 (GRCm39) |
S104R |
possibly damaging |
Het |
| Or7e168 |
A |
T |
9: 19,719,981 (GRCm39) |
R122S |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,542,571 (GRCm39) |
D1772G |
probably benign |
Het |
| Pcdh18 |
G |
T |
3: 49,710,387 (GRCm39) |
F309L |
probably benign |
Het |
| Pcdhac2 |
G |
T |
18: 37,279,006 (GRCm39) |
R662L |
probably damaging |
Het |
| Ppp5c |
G |
A |
7: 16,742,555 (GRCm39) |
S261L |
possibly damaging |
Het |
| Qng1 |
G |
A |
13: 58,529,749 (GRCm39) |
R288W |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,765,675 (GRCm39) |
|
probably benign |
Het |
| Rfx8 |
A |
C |
1: 39,704,682 (GRCm39) |
S578A |
possibly damaging |
Het |
| Rhbdl3 |
T |
G |
11: 80,244,507 (GRCm39) |
*405E |
probably null |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Rnf139 |
G |
T |
15: 58,770,606 (GRCm39) |
L210F |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,814,879 (GRCm39) |
R192G |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,794,701 (GRCm39) |
V137E |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,076,234 (GRCm39) |
D30E |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,665,128 (GRCm39) |
|
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,220,390 (GRCm39) |
C101S |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,728,324 (GRCm39) |
T74A |
probably benign |
Het |
| Sult3a1 |
A |
G |
10: 33,742,571 (GRCm39) |
N66S |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,773,947 (GRCm39) |
K508M |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,903,626 (GRCm39) |
S275P |
probably damaging |
Het |
| Tmed8 |
G |
T |
12: 87,220,990 (GRCm39) |
H199N |
probably damaging |
Het |
| Tubg2 |
A |
T |
11: 101,046,971 (GRCm39) |
Q9L |
probably damaging |
Het |
| Ubxn4 |
C |
T |
1: 128,183,848 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
| Zfp213 |
A |
G |
17: 23,776,945 (GRCm39) |
S366P |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation