Incidental Mutation 'R0420:Gabbr1'
| ID |
157150 |
| 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 |
038622-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R0420 (G1)
|
| Quality Score |
73 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37357654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 23
(N23S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172789]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
[ENSMUST00000174456]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025338
AA Change: N23S
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: N23S
| 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: ENSMUST00000172789
AA Change: N23S
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
AA Change: N23S
| 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 |
unknown
Transcript: ENSMUST00000173823
AA Change: N23S
|
| SMART Domains |
Protein: ENSMUSP00000133797
Gene: ENSMUSG00000024462
AA Change: N23S
| 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 |
possibly damaging
Transcript: ENSMUST00000174456
AA Change: N23S
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
AA Change: N23S
| 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
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
| Validation Efficiency |
100% (76/76) |
| 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 |
|---|
| Abcb4 |
T |
C |
5: 8,991,050 (GRCm39) |
V870A |
probably benign |
Het |
| Adam6b |
A |
T |
12: 113,453,614 (GRCm39) |
M144L |
probably benign |
Het |
| Adrb2 |
T |
A |
18: 62,312,610 (GRCm39) |
I72L |
possibly damaging |
Het |
| Ankrd53 |
A |
T |
6: 83,740,674 (GRCm39) |
H99L |
probably damaging |
Het |
| Ap4e1 |
C |
T |
2: 126,891,280 (GRCm39) |
T17M |
probably damaging |
Het |
| Arnt |
T |
A |
3: 95,377,705 (GRCm39) |
|
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,680,052 (GRCm39) |
G884E |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,729,826 (GRCm39) |
|
probably benign |
Het |
| Atp8a2 |
G |
T |
14: 60,011,193 (GRCm39) |
T971K |
probably damaging |
Het |
| BC048562 |
A |
T |
9: 108,323,165 (GRCm39) |
T167S |
probably benign |
Het |
| Brd9 |
A |
G |
13: 74,103,592 (GRCm39) |
M491V |
probably benign |
Het |
| Btnl10 |
A |
T |
11: 58,814,277 (GRCm39) |
D319V |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,491,800 (GRCm38) |
R783S |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,581 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,782 (GRCm39) |
D107V |
probably null |
Het |
| Cep192 |
A |
G |
18: 67,946,964 (GRCm39) |
E213G |
possibly damaging |
Het |
| Cyp2c37 |
A |
C |
19: 39,984,238 (GRCm39) |
N242T |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,765 (GRCm39) |
V3750A |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,836 (GRCm39) |
I231L |
probably benign |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
T |
C |
10: 23,031,861 (GRCm39) |
N254S |
possibly damaging |
Het |
| Fam184b |
A |
G |
5: 45,741,854 (GRCm39) |
S126P |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,513,940 (GRCm39) |
L108P |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 27,981,281 (GRCm39) |
M145K |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,412,047 (GRCm39) |
|
probably benign |
Het |
| Gm6434 |
T |
A |
7: 25,581,786 (GRCm39) |
|
noncoding transcript |
Het |
| Grik4 |
A |
T |
9: 42,533,392 (GRCm39) |
L376* |
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,203,090 (GRCm39) |
L51F |
probably damaging |
Het |
| Gzf1 |
A |
G |
2: 148,525,753 (GRCm39) |
T75A |
probably benign |
Het |
| Hcn1 |
T |
C |
13: 118,111,911 (GRCm39) |
I625T |
unknown |
Het |
| Hhat |
C |
T |
1: 192,235,242 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,914 (GRCm39) |
E181G |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,852,257 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
C |
11: 120,606,045 (GRCm39) |
S118R |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,424,623 (GRCm39) |
I656V |
probably benign |
Het |
| Ms4a5 |
A |
G |
19: 11,261,018 (GRCm39) |
L47S |
probably damaging |
Het |
| Mynn |
A |
T |
3: 30,661,608 (GRCm39) |
N230I |
probably benign |
Het |
| Nck2 |
T |
C |
1: 43,593,278 (GRCm39) |
S162P |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,094,093 (GRCm39) |
F259S |
probably damaging |
Het |
| Obox1 |
T |
G |
7: 15,290,178 (GRCm39) |
S174A |
possibly damaging |
Het |
| Ociad1 |
T |
A |
5: 73,470,772 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
T |
13: 21,607,336 (GRCm39) |
V286E |
possibly damaging |
Het |
| Phlpp2 |
T |
C |
8: 110,666,567 (GRCm39) |
V1032A |
probably damaging |
Het |
| Ppm1e |
C |
T |
11: 87,131,440 (GRCm39) |
A318T |
probably damaging |
Het |
| Prex1 |
T |
A |
2: 166,431,491 (GRCm39) |
D757V |
probably benign |
Het |
| Ptpdc1 |
C |
A |
13: 48,742,595 (GRCm39) |
|
probably null |
Het |
| Rbbp5 |
T |
G |
1: 132,421,582 (GRCm39) |
I94R |
possibly damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,415,518 (GRCm39) |
V173A |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,411,625 (GRCm39) |
N700K |
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,931,203 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,175 (GRCm39) |
H188L |
probably damaging |
Het |
| Spmip11 |
A |
G |
15: 98,468,975 (GRCm39) |
S17G |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,016,754 (GRCm39) |
|
probably benign |
Het |
| Synpo |
A |
G |
18: 60,735,490 (GRCm39) |
S819P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,097,951 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,522,973 (GRCm39) |
V1468A |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,553,193 (GRCm39) |
N83S |
probably benign |
Het |
| Tle6 |
T |
C |
10: 81,431,145 (GRCm39) |
|
probably benign |
Het |
| Tm2d2 |
T |
G |
8: 25,508,130 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 127,941,710 (GRCm39) |
Q463H |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,153,102 (GRCm39) |
S324P |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,918,396 (GRCm39) |
T1172A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,489,746 (GRCm39) |
C393S |
probably benign |
Het |
| Usp42 |
G |
A |
5: 143,700,616 (GRCm39) |
L1136F |
probably damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,389,183 (GRCm39) |
M499R |
probably benign |
Het |
| Vps54 |
T |
A |
11: 21,261,071 (GRCm39) |
|
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,450,300 (GRCm39) |
R1076H |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,118,039 (GRCm39) |
M917K |
possibly damaging |
Het |
| Wee2 |
T |
C |
6: 40,433,929 (GRCm39) |
V281A |
probably benign |
Het |
| Zc3h6 |
A |
G |
2: 128,856,747 (GRCm39) |
D609G |
probably benign |
Het |
| Zfp345 |
G |
A |
2: 150,315,163 (GRCm39) |
H125Y |
possibly damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,236 (GRCm39) |
K202E |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTGGGTAAGCTGGGCTA -3'
(R):5'- GGCTGAGATAATTCGGGGTCACAGA -3'
Sequencing Primer
(F):5'- CTGAGAGGAGGTGGAGTCCC -3'
(R):5'- ACGGTGTAGTGTAGCAACGTG -3'
|
| Posted On |
2014-02-17 |
Incidental Mutation