Incidental Mutation 'IGL01413:Gabbr1'
| ID |
80142 |
| 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 # |
IGL01413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37373598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 498
(N498S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025338
AA Change: N498S
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: N498S
| 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: ENSMUST00000172792
AA Change: N382S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: N382S
| 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 |
noncoding transcript
Transcript: ENSMUST00000174181
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
A |
T |
18: 74,939,015 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
T |
A |
8: 84,656,486 (GRCm39) |
I268N |
probably damaging |
Het |
| Asic1 |
T |
A |
15: 99,569,998 (GRCm39) |
N106K |
probably damaging |
Het |
| Ass1 |
A |
G |
2: 31,366,934 (GRCm39) |
Y11C |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,644,632 (GRCm39) |
E448G |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,915,343 (GRCm39) |
S639P |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,912,801 (GRCm39) |
H91L |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cnga4 |
A |
T |
7: 105,054,169 (GRCm39) |
M46L |
probably benign |
Het |
| Col4a4 |
C |
T |
1: 82,448,969 (GRCm39) |
G1207E |
unknown |
Het |
| Cracdl |
G |
A |
1: 37,651,387 (GRCm39) |
A1160V |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 38,943,894 (GRCm39) |
L58Q |
possibly damaging |
Het |
| Cyb561a3 |
T |
A |
19: 10,562,610 (GRCm39) |
H83Q |
probably damaging |
Het |
| Dlgap1 |
C |
A |
17: 70,823,069 (GRCm39) |
A18E |
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,323,790 (GRCm39) |
L3707F |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,120,812 (GRCm39) |
M669K |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,151,191 (GRCm39) |
N289D |
probably benign |
Het |
| Fbrsl1 |
T |
A |
5: 110,526,114 (GRCm39) |
E443D |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,052,239 (GRCm39) |
C288* |
probably null |
Het |
| Gja10 |
T |
C |
4: 32,602,070 (GRCm39) |
K105E |
probably damaging |
Het |
| Glra4 |
C |
T |
X: 135,663,493 (GRCm39) |
R352H |
probably benign |
Het |
| Gm19402 |
G |
T |
10: 77,526,323 (GRCm39) |
|
probably benign |
Het |
| Hadha |
T |
A |
5: 30,346,025 (GRCm39) |
M200L |
probably benign |
Het |
| Hoxc9 |
T |
A |
15: 102,892,432 (GRCm39) |
M215K |
probably damaging |
Het |
| Huwe1 |
A |
T |
X: 150,665,676 (GRCm39) |
Q1231L |
possibly damaging |
Het |
| Ifi214 |
T |
A |
1: 173,356,995 (GRCm39) |
N36I |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,452,542 (GRCm39) |
N242D |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,485,329 (GRCm39) |
K260N |
possibly damaging |
Het |
| Lhx6 |
C |
A |
2: 35,993,528 (GRCm39) |
A57S |
probably benign |
Het |
| Mdh2 |
T |
A |
5: 135,814,879 (GRCm39) |
I116N |
probably damaging |
Het |
| Met |
T |
C |
6: 17,558,895 (GRCm39) |
|
probably benign |
Het |
| Mgam |
A |
G |
6: 40,638,211 (GRCm39) |
D387G |
probably damaging |
Het |
| Myo3a |
T |
C |
2: 22,302,411 (GRCm39) |
S287P |
probably benign |
Het |
| Nol8 |
T |
G |
13: 49,813,428 (GRCm39) |
N140K |
possibly damaging |
Het |
| Nrap |
C |
A |
19: 56,377,823 (GRCm39) |
A56S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,876,030 (GRCm39) |
T548A |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,275 (GRCm39) |
C178S |
probably damaging |
Het |
| Or2i1 |
A |
T |
17: 37,508,554 (GRCm39) |
F102I |
possibly damaging |
Het |
| Pcdh11x |
A |
G |
X: 119,309,282 (GRCm39) |
T242A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,029 (GRCm39) |
N236D |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,186,147 (GRCm39) |
I1215V |
possibly damaging |
Het |
| Plekha8 |
C |
T |
6: 54,599,261 (GRCm39) |
T265I |
probably benign |
Het |
| Pou4f2 |
T |
A |
8: 79,161,734 (GRCm39) |
I290F |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,381,887 (GRCm39) |
F270I |
probably benign |
Het |
| Ptpn3 |
G |
A |
4: 57,270,156 (GRCm39) |
T2I |
probably damaging |
Het |
| Rab28 |
A |
T |
5: 41,855,790 (GRCm39) |
D68E |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 156,994,812 (GRCm39) |
|
probably null |
Het |
| Samd4 |
A |
G |
14: 47,254,249 (GRCm39) |
T137A |
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,277,842 (GRCm39) |
D358E |
probably damaging |
Het |
| Serpinb9c |
G |
A |
13: 33,335,787 (GRCm39) |
L222F |
probably damaging |
Het |
| Slc24a3 |
A |
G |
2: 145,482,169 (GRCm39) |
D609G |
probably damaging |
Het |
| Slc25a40 |
A |
C |
5: 8,503,298 (GRCm39) |
*338Y |
probably null |
Het |
| Spef2 |
T |
A |
15: 9,676,376 (GRCm39) |
I732L |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,999 (GRCm39) |
|
probably benign |
Het |
| Ssxb13 |
A |
G |
X: 8,615,692 (GRCm39) |
E75G |
probably benign |
Het |
| Stmnd1 |
A |
T |
13: 46,453,157 (GRCm39) |
I278L |
probably benign |
Het |
| Strap |
C |
A |
6: 137,722,502 (GRCm39) |
|
probably benign |
Het |
| Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
| Tcf4 |
A |
C |
18: 69,788,090 (GRCm39) |
E160D |
probably damaging |
Het |
| Themis3 |
A |
G |
17: 66,863,092 (GRCm39) |
Y289H |
probably benign |
Het |
| Tmem87a |
T |
C |
2: 120,216,351 (GRCm39) |
T180A |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,033,678 (GRCm39) |
V963A |
possibly damaging |
Het |
| Trav19 |
G |
T |
14: 54,083,072 (GRCm39) |
C49F |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,031,541 (GRCm39) |
S425P |
possibly damaging |
Het |
| Ubap1 |
A |
T |
4: 41,387,333 (GRCm39) |
R414S |
probably benign |
Het |
| Usp9x |
A |
G |
X: 13,017,579 (GRCm39) |
S1696G |
probably benign |
Het |
| Vipas39 |
G |
A |
12: 87,296,171 (GRCm39) |
T274I |
probably benign |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,046 (GRCm39) |
V153E |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,282,827 (GRCm39) |
T174A |
probably benign |
Het |
| Wdr59 |
T |
A |
8: 112,227,706 (GRCm39) |
S124C |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,340,270 (GRCm39) |
D837V |
probably damaging |
Het |
| Zfp185 |
A |
G |
X: 72,061,997 (GRCm39) |
D403G |
possibly damaging |
Het |
| Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
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 |
|
|
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 |
|
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 |
2013-11-05 |
Incidental Mutation