Incidental Mutation 'IGL01309:Gabbr1'
| ID |
73615 |
| 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 # |
IGL01309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 37359499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172789]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
[ENSMUST00000174456]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably null
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
AA Change: G158D
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
AA Change: G158D
| 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
AA Change: G158D
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
AA Change: G158D
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
A |
G |
16: 16,931,410 (GRCm39) |
V275A |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,694,528 (GRCm39) |
D1105G |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,151,352 (GRCm39) |
M195L |
possibly damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,756 (GRCm39) |
|
probably benign |
Het |
| Atg13 |
T |
A |
2: 91,509,176 (GRCm39) |
I457F |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,130 (GRCm39) |
N45D |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,516,652 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
G |
A |
8: 85,249,657 (GRCm39) |
G221D |
probably damaging |
Het |
| Calr |
A |
G |
8: 85,573,335 (GRCm39) |
|
probably null |
Het |
| Chd3 |
C |
T |
11: 69,248,557 (GRCm39) |
V825I |
probably damaging |
Het |
| Chdh |
T |
G |
14: 29,757,761 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,400,529 (GRCm39) |
V627A |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,677,289 (GRCm39) |
E5G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,265,773 (GRCm39) |
R199G |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,723,724 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
G |
A |
5: 35,236,912 (GRCm39) |
G293D |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,596 (GRCm39) |
V523A |
probably benign |
Het |
| Fam171b |
C |
T |
2: 83,709,791 (GRCm39) |
Q488* |
probably null |
Het |
| Gm5965 |
T |
G |
16: 88,575,219 (GRCm39) |
S131A |
possibly damaging |
Het |
| Gpcpd1 |
T |
C |
2: 132,392,244 (GRCm39) |
D235G |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,767,207 (GRCm39) |
K111* |
probably null |
Het |
| Itih4 |
G |
T |
14: 30,613,706 (GRCm39) |
D308Y |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,314 (GRCm39) |
Y266H |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,953,663 (GRCm39) |
L783P |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,888,737 (GRCm39) |
D298G |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,849,423 (GRCm39) |
F712L |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,282 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
T |
A |
9: 64,588,698 (GRCm39) |
S532R |
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,192 (GRCm39) |
D284G |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,116,185 (GRCm39) |
I596M |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,764,254 (GRCm39) |
L491P |
probably damaging |
Het |
| Or4a66 |
T |
G |
2: 88,531,310 (GRCm39) |
Y121S |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,289 (GRCm39) |
I284L |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,057 (GRCm39) |
M143T |
probably damaging |
Het |
| Otor |
T |
C |
2: 142,920,532 (GRCm39) |
V38A |
possibly damaging |
Het |
| Pcdhb12 |
G |
T |
18: 37,569,207 (GRCm39) |
D118Y |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,545 (GRCm39) |
H200R |
probably benign |
Het |
| Prmt5 |
T |
C |
14: 54,747,334 (GRCm39) |
Y481C |
probably damaging |
Het |
| Psg23 |
T |
G |
7: 18,348,465 (GRCm39) |
D114A |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,272,239 (GRCm39) |
Y127N |
probably damaging |
Het |
| Rabgap1l |
C |
A |
1: 160,528,368 (GRCm39) |
V385L |
probably benign |
Het |
| Rergl |
T |
A |
6: 139,470,256 (GRCm39) |
K191* |
probably null |
Het |
| Sart3 |
A |
G |
5: 113,897,311 (GRCm39) |
F252S |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,519,769 (GRCm39) |
S1169T |
probably benign |
Het |
| Serpinb8 |
C |
T |
1: 107,532,448 (GRCm39) |
T180M |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,434,470 (GRCm39) |
E747K |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,634,237 (GRCm39) |
D2158V |
probably benign |
Het |
| Sycp2 |
T |
G |
2: 177,999,904 (GRCm39) |
D1024A |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,636,411 (GRCm39) |
N262K |
possibly damaging |
Het |
| Tnrc6a |
A |
T |
7: 122,770,717 (GRCm39) |
I836F |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,769,091 (GRCm39) |
E2823G |
probably damaging |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,026 (GRCm39) |
L441Q |
possibly damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,424 (GRCm39) |
F196L |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,787,997 (GRCm39) |
I451M |
possibly damaging |
Het |
| Zcchc7 |
A |
T |
4: 44,926,060 (GRCm39) |
H353L |
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 |
|
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation