Incidental Mutation 'R4299:Gabbr1'
| ID |
323518 |
| 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 |
041087-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R4299 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 37366792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 178
(R178*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025338
AA Change: R339*
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: R339*
| 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 null
Transcript: ENSMUST00000172792
AA Change: R223*
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: R223*
| 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 null
Transcript: ENSMUST00000174347
AA Change: R178*
|
| SMART Domains |
Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: R178*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (76/78) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Akna |
A |
T |
4: 63,316,269 (GRCm39) |
D31E |
possibly damaging |
Het |
| Apbb2 |
A |
T |
5: 66,470,721 (GRCm39) |
H528Q |
probably damaging |
Het |
| Atp6v1g3 |
C |
A |
1: 138,211,462 (GRCm39) |
Y47* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| C4b |
T |
C |
17: 34,950,118 (GRCm39) |
D1384G |
possibly damaging |
Het |
| Cbfa2t2 |
G |
A |
2: 154,365,848 (GRCm39) |
V353I |
probably damaging |
Het |
| Ccdc121 |
A |
G |
5: 31,644,870 (GRCm39) |
R208G |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,988,731 (GRCm39) |
I211T |
probably damaging |
Het |
| Cep170b |
T |
C |
12: 112,705,739 (GRCm39) |
S1166P |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Crygs |
G |
A |
16: 22,624,161 (GRCm39) |
Q149* |
probably null |
Het |
| Cyp2c70 |
T |
C |
19: 40,172,372 (GRCm39) |
Q90R |
probably benign |
Het |
| Cyp3a41b |
T |
C |
5: 145,510,487 (GRCm39) |
Y129C |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,896,989 (GRCm39) |
T3645A |
probably damaging |
Het |
| Dnai3 |
C |
T |
3: 145,774,561 (GRCm39) |
D429N |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,175,200 (GRCm39) |
W282R |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,729,008 (GRCm39) |
|
probably null |
Het |
| Dysf |
A |
G |
6: 84,045,059 (GRCm39) |
T297A |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,717 (GRCm39) |
D142E |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,337,882 (GRCm39) |
N29K |
probably benign |
Het |
| Fxyd7 |
A |
T |
7: 30,744,407 (GRCm39) |
M36K |
probably benign |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Il1rapl1 |
A |
T |
X: 86,344,313 (GRCm39) |
I194N |
probably damaging |
Het |
| Kics2 |
C |
A |
10: 121,581,351 (GRCm39) |
H117Q |
probably benign |
Het |
| Klhl24 |
T |
C |
16: 19,925,754 (GRCm39) |
M94T |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,669,912 (GRCm39) |
I133N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,293,199 (GRCm39) |
I5381T |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,148 (GRCm39) |
L197P |
probably damaging |
Het |
| Mapkapk3 |
G |
A |
9: 107,134,648 (GRCm39) |
T296M |
probably damaging |
Het |
| Micall2 |
T |
C |
5: 139,695,226 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,164 (GRCm39) |
T1214A |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Neurl4 |
A |
C |
11: 69,799,887 (GRCm39) |
D1055A |
probably damaging |
Het |
| Nrbp1 |
T |
C |
5: 31,407,943 (GRCm39) |
|
probably null |
Het |
| Or13a20 |
T |
C |
7: 140,232,156 (GRCm39) |
V88A |
probably benign |
Het |
| Or1e21 |
A |
T |
11: 73,344,827 (GRCm39) |
D70E |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,202 (GRCm39) |
H94L |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,585 (GRCm39) |
I142F |
possibly damaging |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,878 (GRCm39) |
Y265* |
probably null |
Het |
| Or8b42 |
T |
G |
9: 38,342,108 (GRCm39) |
Y177D |
probably damaging |
Het |
| Or8d1b |
T |
A |
9: 38,887,055 (GRCm39) |
F28I |
probably damaging |
Het |
| Or8g19 |
T |
C |
9: 39,056,295 (GRCm39) |
S300P |
probably benign |
Het |
| Patj |
C |
A |
4: 98,565,558 (GRCm39) |
N1090K |
possibly damaging |
Het |
| Pde8a |
A |
G |
7: 80,977,783 (GRCm39) |
D692G |
probably benign |
Het |
| Ppa2 |
G |
T |
3: 133,073,603 (GRCm39) |
K220N |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,546,419 (GRCm39) |
K137E |
probably damaging |
Het |
| Ptgr3 |
A |
T |
18: 84,112,626 (GRCm39) |
I101F |
possibly damaging |
Het |
| Rad54b |
A |
G |
4: 11,597,865 (GRCm39) |
H250R |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rgs14 |
A |
G |
13: 55,531,566 (GRCm39) |
T497A |
probably damaging |
Het |
| Rpl13-ps3 |
T |
A |
14: 59,130,972 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
T |
G |
9: 119,594,572 (GRCm39) |
I1274L |
probably damaging |
Het |
| Sco1 |
A |
T |
11: 66,946,626 (GRCm39) |
H133L |
possibly damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,694,521 (GRCm39) |
|
probably null |
Het |
| Smc2 |
C |
T |
4: 52,440,238 (GRCm39) |
|
probably benign |
Het |
| Spata18 |
T |
C |
5: 73,824,245 (GRCm39) |
I156T |
probably benign |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stt3a |
A |
G |
9: 36,674,640 (GRCm39) |
F48L |
probably damaging |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
T |
17: 25,334,230 (GRCm39) |
S6T |
possibly damaging |
Het |
| Tnfrsf11b |
T |
C |
15: 54,115,491 (GRCm39) |
M369V |
probably benign |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Vmn1r234 |
A |
T |
17: 21,449,283 (GRCm39) |
M66L |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,589 (GRCm39) |
L97* |
probably null |
Het |
| Xrcc5 |
T |
C |
1: 72,433,879 (GRCm39) |
*733Q |
probably null |
Het |
| Zfp1004 |
G |
A |
2: 150,032,653 (GRCm39) |
D17N |
probably damaging |
Het |
| Zfp516 |
G |
A |
18: 83,005,622 (GRCm39) |
G842D |
possibly damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCTCTCCTCATGGGGTTTAG -3'
(R):5'- GAGCCGTCTCACAGAATGAAC -3'
Sequencing Primer
(F):5'- AGGGGCTCTTGGAATAAGGTTCAG -3'
(R):5'- TGAACAACTGCCTCTTCCAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation