Incidental Mutation 'R4597:Gabbr1'
ID |
344475 |
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 |
041813-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
R4597 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37367791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 414
(M414V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
|
AlphaFold |
Q9WV18 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025338
AA Change: M414V
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000025338 Gene: ENSMUSG00000024462 AA Change: M414V
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: M298V
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000134268 Gene: ENSMUSG00000024462 AA Change: M298V
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 |
0.2005 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
96% (67/70) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
T |
A |
2: 103,856,500 (GRCm39) |
|
probably benign |
Het |
Aadacl2fm3 |
T |
A |
3: 59,784,214 (GRCm39) |
M229K |
possibly damaging |
Het |
Adh5 |
T |
C |
3: 138,151,118 (GRCm39) |
V27A |
probably damaging |
Het |
Ank2 |
A |
T |
3: 126,781,800 (GRCm39) |
D843E |
probably damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Arid2 |
A |
G |
15: 96,268,737 (GRCm39) |
N950S |
probably damaging |
Het |
Arl1 |
A |
T |
10: 88,566,608 (GRCm39) |
|
probably benign |
Het |
Bcl3 |
T |
G |
7: 19,546,428 (GRCm39) |
I136L |
probably damaging |
Het |
Car9 |
T |
A |
4: 43,509,138 (GRCm39) |
S235R |
probably damaging |
Het |
Carnmt1 |
G |
T |
19: 18,648,451 (GRCm39) |
G30W |
probably damaging |
Het |
Casp12 |
C |
T |
9: 5,348,941 (GRCm39) |
T101I |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,244,823 (GRCm39) |
L1026P |
probably damaging |
Het |
Clec10a |
A |
T |
11: 70,060,806 (GRCm39) |
Y186F |
probably damaging |
Het |
Col22a1 |
G |
T |
15: 71,836,511 (GRCm39) |
A508E |
possibly damaging |
Het |
Crocc |
G |
C |
4: 140,747,088 (GRCm39) |
S1573R |
probably damaging |
Het |
Cttnbp2nl |
G |
T |
3: 104,913,191 (GRCm39) |
T231K |
possibly damaging |
Het |
Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
Ehbp1l1 |
T |
C |
19: 5,767,955 (GRCm39) |
E1116G |
possibly damaging |
Het |
Fam83d |
T |
C |
2: 158,627,142 (GRCm39) |
V277A |
possibly damaging |
Het |
Fga |
G |
T |
3: 82,938,542 (GRCm39) |
G306* |
probably null |
Het |
Fkbp9 |
A |
G |
6: 56,809,367 (GRCm39) |
Y59C |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,274,441 (GRCm39) |
T450A |
probably benign |
Het |
Gm16506 |
A |
G |
14: 43,962,572 (GRCm39) |
F112L |
unknown |
Het |
Gm27047 |
T |
C |
6: 130,607,299 (GRCm39) |
|
noncoding transcript |
Het |
Gm4353 |
T |
A |
7: 115,682,847 (GRCm39) |
K245* |
probably null |
Het |
Gm4950 |
A |
T |
18: 51,998,865 (GRCm39) |
I30N |
probably benign |
Het |
H1f5 |
A |
T |
13: 21,964,681 (GRCm39) |
V15E |
probably damaging |
Het |
H2-M10.2 |
T |
C |
17: 36,596,285 (GRCm39) |
T187A |
probably benign |
Het |
H60c |
A |
T |
10: 3,209,968 (GRCm39) |
N106K |
possibly damaging |
Het |
Hoxa6 |
T |
C |
6: 52,185,387 (GRCm39) |
|
probably null |
Het |
Ighv1-74 |
A |
G |
12: 115,766,276 (GRCm39) |
C115R |
probably damaging |
Het |
Il17a |
G |
A |
1: 20,801,217 (GRCm39) |
|
probably null |
Het |
Itga9 |
T |
C |
9: 118,672,582 (GRCm39) |
Y199H |
probably damaging |
Het |
Itpr3 |
C |
T |
17: 27,312,257 (GRCm39) |
R554C |
probably damaging |
Het |
Kcnc3 |
T |
A |
7: 44,245,240 (GRCm39) |
M510K |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,822,914 (GRCm39) |
T432A |
probably benign |
Het |
Kif26b |
A |
T |
1: 178,744,358 (GRCm39) |
S1485C |
probably damaging |
Het |
Klhl2 |
C |
A |
8: 65,207,421 (GRCm39) |
G313W |
probably damaging |
Het |
Klhl32 |
C |
T |
4: 24,629,339 (GRCm39) |
S476N |
probably benign |
Het |
Krt1 |
C |
T |
15: 101,756,063 (GRCm39) |
E386K |
possibly damaging |
Het |
Lats1 |
T |
C |
10: 7,567,510 (GRCm39) |
S94P |
probably benign |
Het |
Ltf |
G |
A |
9: 110,852,001 (GRCm39) |
C146Y |
probably damaging |
Het |
Mars1 |
A |
G |
10: 127,136,322 (GRCm39) |
L501P |
probably damaging |
Het |
Myh2 |
A |
C |
11: 67,080,244 (GRCm39) |
I1153L |
probably benign |
Het |
Ncstn |
A |
T |
1: 171,895,823 (GRCm39) |
Y522* |
probably null |
Het |
Nipal4 |
A |
G |
11: 46,042,156 (GRCm39) |
V175A |
probably damaging |
Het |
Or7e169 |
T |
C |
9: 19,756,987 (GRCm39) |
I309M |
probably benign |
Het |
Pcdha1 |
C |
G |
18: 37,064,959 (GRCm39) |
A541G |
possibly damaging |
Het |
Pex11g |
A |
G |
8: 3,514,043 (GRCm39) |
Y40H |
probably damaging |
Het |
Pira13 |
T |
A |
7: 3,825,154 (GRCm39) |
Y496F |
possibly damaging |
Het |
Qrfprl |
T |
C |
6: 65,424,408 (GRCm39) |
|
probably null |
Het |
Rin2 |
G |
T |
2: 145,702,825 (GRCm39) |
R507L |
probably benign |
Het |
Sh2b2 |
T |
C |
5: 136,260,616 (GRCm39) |
D200G |
probably damaging |
Het |
Smg7 |
C |
A |
1: 152,716,052 (GRCm39) |
|
probably null |
Het |
Snx17 |
T |
C |
5: 31,355,857 (GRCm39) |
|
probably benign |
Het |
Sos1 |
T |
C |
17: 80,741,255 (GRCm39) |
Y510C |
probably benign |
Het |
Spata31d1c |
T |
A |
13: 65,183,427 (GRCm39) |
L323* |
probably null |
Het |
Supt16 |
C |
T |
14: 52,411,046 (GRCm39) |
G686D |
probably damaging |
Het |
Szt2 |
C |
T |
4: 118,229,878 (GRCm39) |
R2751H |
unknown |
Het |
Tnfsf8 |
A |
G |
4: 63,755,337 (GRCm39) |
L95P |
probably damaging |
Het |
Vmn2r17 |
A |
G |
5: 109,577,428 (GRCm39) |
H493R |
probably benign |
Het |
Zfp770 |
C |
T |
2: 114,027,251 (GRCm39) |
A273T |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAATGAGCTAACACTACTTGCCC -3'
(R):5'- CTCTCTCGCCCAAGGAAATC -3'
Sequencing Primer
(F):5'- GCTAACACTACTTGCCCCAGAAC -3'
(R):5'- TGACGCAAACAAGCTCAAGATG -3'
|
Posted On |
2015-09-25 |