Incidental Mutation 'R8110:Gabbr1'
| ID |
630840 |
| 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 |
067539-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R8110 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 37359475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 150
(S150T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(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: S150T
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: S150T
| 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: S150T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
AA Change: S150T
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000174456
AA Change: S150T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
AA Change: S150T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.1%
|
| Validation Efficiency |
99% (73/74) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd45 |
T |
C |
1: 160,978,889 (GRCm39) |
|
probably null |
Het |
| Appl1 |
C |
A |
14: 26,649,751 (GRCm39) |
G592* |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,720,464 (GRCm39) |
M1501K |
probably benign |
Het |
| Calcrl |
C |
T |
2: 84,169,683 (GRCm39) |
A333T |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,771,835 (GRCm39) |
I33N |
probably benign |
Het |
| Ceacam15 |
A |
G |
7: 16,407,334 (GRCm39) |
L61P |
probably benign |
Het |
| Cfap69 |
T |
A |
5: 5,632,515 (GRCm39) |
H827L |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,303 (GRCm39) |
T426I |
probably damaging |
Het |
| Eefsec |
A |
C |
6: 88,353,312 (GRCm39) |
I119S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,703,550 (GRCm39) |
N570S |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,491,095 (GRCm39) |
M461T |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,290,620 (GRCm39) |
Y95H |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,789,017 (GRCm39) |
I346T |
probably benign |
Het |
| Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
| Galnt9 |
G |
T |
5: 110,763,339 (GRCm39) |
W448L |
probably damaging |
Het |
| Gcnt2 |
G |
T |
13: 41,071,198 (GRCm39) |
|
probably benign |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,012 (GRCm39) |
Y2633C |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,266 (GRCm39) |
I214V |
probably damaging |
Het |
| Hspa12a |
T |
A |
19: 58,809,445 (GRCm39) |
E217V |
possibly damaging |
Het |
| Itih2 |
A |
G |
2: 10,101,948 (GRCm39) |
F845L |
probably damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,568,540 (GRCm39) |
L606H |
probably damaging |
Het |
| Krt6b |
G |
A |
15: 101,588,577 (GRCm39) |
R28C |
probably damaging |
Het |
| Lama2 |
T |
A |
10: 26,866,866 (GRCm39) |
D2876V |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,175,279 (GRCm39) |
S397P |
probably damaging |
Het |
| Lmf2 |
C |
T |
15: 89,236,561 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,336,797 (GRCm39) |
I1325T |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,850,676 (GRCm39) |
C879* |
probably null |
Het |
| Map3k1 |
A |
G |
13: 111,891,847 (GRCm39) |
V1136A |
probably damaging |
Het |
| Mettl3 |
G |
T |
14: 52,537,709 (GRCm39) |
H84N |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,873 (GRCm39) |
|
probably null |
Het |
| Mlip |
G |
T |
9: 77,146,861 (GRCm39) |
T92K |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,702,113 (GRCm39) |
Y466F |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,201,698 (GRCm39) |
L235* |
probably null |
Het |
| Nbn |
T |
C |
4: 15,981,588 (GRCm39) |
V560A |
probably benign |
Het |
| Ncln |
A |
T |
10: 81,328,987 (GRCm39) |
Y144N |
possibly damaging |
Het |
| Nfe2l2 |
A |
C |
2: 75,509,765 (GRCm39) |
D18E |
probably benign |
Het |
| Or10aa3 |
G |
A |
1: 173,878,091 (GRCm39) |
A51T |
probably benign |
Het |
| Or12d2 |
A |
G |
17: 37,624,604 (GRCm39) |
F224L |
probably benign |
Het |
| Or1ak2 |
T |
C |
2: 36,827,721 (GRCm39) |
C197R |
possibly damaging |
Het |
| Or5w11 |
T |
C |
2: 87,458,951 (GRCm39) |
I48T |
possibly damaging |
Het |
| Otop3 |
A |
T |
11: 115,230,221 (GRCm39) |
M33L |
probably benign |
Het |
| Pate7 |
T |
C |
9: 35,689,329 (GRCm39) |
*84W |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Phf14 |
T |
C |
6: 11,953,422 (GRCm39) |
I387T |
possibly damaging |
Het |
| Prb1c |
C |
T |
6: 132,338,531 (GRCm39) |
G229D |
unknown |
Het |
| Prdm9 |
T |
A |
17: 15,774,960 (GRCm39) |
N318Y |
probably damaging |
Het |
| Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
| Prune2 |
G |
A |
19: 17,098,083 (GRCm39) |
G1196S |
probably benign |
Het |
| Psd3 |
T |
A |
8: 68,573,708 (GRCm39) |
S158C |
probably damaging |
Het |
| Rps18 |
A |
G |
17: 34,174,110 (GRCm39) |
V15A |
probably benign |
Het |
| Sanbr |
G |
T |
11: 23,526,764 (GRCm39) |
T696N |
probably benign |
Het |
| Sharpin |
C |
A |
15: 76,231,965 (GRCm39) |
R271L |
possibly damaging |
Het |
| Smad5 |
C |
A |
13: 56,871,701 (GRCm39) |
Q99K |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 144,062,200 (GRCm39) |
M151V |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,492 (GRCm39) |
F419Y |
possibly damaging |
Het |
| Tbx20 |
T |
A |
9: 24,636,821 (GRCm39) |
Y422F |
probably damaging |
Het |
| Tcirg1 |
A |
C |
19: 3,949,099 (GRCm39) |
F397V |
probably damaging |
Het |
| Tex36 |
G |
A |
7: 133,197,012 (GRCm39) |
S35F |
possibly damaging |
Het |
| Tsen54 |
G |
T |
11: 115,705,760 (GRCm39) |
A26S |
unknown |
Het |
| Usp50 |
T |
A |
2: 126,622,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,709 (GRCm39) |
F757I |
probably benign |
Het |
| Zbbx |
T |
C |
3: 75,062,749 (GRCm39) |
T3A |
possibly damaging |
Het |
| Zfp28 |
T |
A |
7: 6,392,828 (GRCm39) |
M168K |
probably benign |
Het |
| Zfp568 |
G |
T |
7: 29,722,551 (GRCm39) |
G499W |
probably damaging |
Het |
| Zfp7 |
C |
G |
15: 76,775,131 (GRCm39) |
P391R |
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 |
|
|
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 |
|
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'- GGAAGGATCCTCTACAACTTGCC -3'
(R):5'- TGGAACCAAGTCTGAGGCAG -3'
Sequencing Primer
(F):5'- ATTTTCCTGTCTCTCCACAGTCCG -3'
(R):5'- CCAAGTCTGAGGCAGGTGGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation