Incidental Mutation 'R1763:Gabbr1'
| ID |
193236 |
| 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 |
039795-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R1763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37365659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 158
(S158A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025338
AA Change: S274A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: S274A
| 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 damaging
Transcript: ENSMUST00000172792
AA Change: S158A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: S158A
| 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 damaging
Transcript: ENSMUST00000174347
AA Change: S113A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: S113A
| 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 |
0.4625 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 92.0%
|
| Validation Efficiency |
98% (85/87) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,396,529 (GRCm39) |
V401A |
probably benign |
Het |
| Abca4 |
G |
A |
3: 121,904,330 (GRCm39) |
V794M |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,957,479 (GRCm39) |
T772S |
probably damaging |
Het |
| Acox3 |
G |
A |
5: 35,765,683 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
A |
G |
7: 66,797,463 (GRCm39) |
N1060S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,214,150 (GRCm39) |
Y1346C |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,215 (GRCm39) |
F321I |
probably benign |
Het |
| Atp5pb |
A |
G |
3: 105,858,905 (GRCm39) |
|
probably null |
Het |
| Bloc1s5 |
A |
G |
13: 38,803,060 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,553,271 (GRCm39) |
N397S |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,821,153 (GRCm39) |
V1121A |
probably benign |
Het |
| Cad |
G |
A |
5: 31,218,295 (GRCm39) |
V460I |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,744,619 (GRCm39) |
D935E |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,393,795 (GRCm39) |
K686N |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,727,143 (GRCm39) |
F186L |
possibly damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,187 (GRCm39) |
|
probably null |
Het |
| Chrna7 |
A |
G |
7: 62,749,000 (GRCm39) |
V494A |
probably benign |
Het |
| Clec2i |
T |
G |
6: 128,872,388 (GRCm39) |
Y198* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 71,879,025 (GRCm39) |
V44A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,794,263 (GRCm39) |
I666N |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,401,841 (GRCm39) |
|
probably null |
Het |
| Dlk1 |
G |
T |
12: 109,424,045 (GRCm39) |
C102F |
probably damaging |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 54,943,572 (GRCm39) |
|
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,947,535 (GRCm39) |
H215L |
probably damaging |
Het |
| Dus1l |
C |
G |
11: 120,686,497 (GRCm39) |
G15R |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,474,822 (GRCm39) |
V268L |
probably benign |
Het |
| F2 |
A |
C |
2: 91,465,251 (GRCm39) |
C104W |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,329,832 (GRCm39) |
L74P |
unknown |
Het |
| Frmd6 |
G |
A |
12: 70,940,396 (GRCm39) |
R347Q |
possibly damaging |
Het |
| Galc |
T |
C |
12: 98,200,525 (GRCm39) |
N295S |
probably damaging |
Het |
| Gm6408 |
A |
T |
5: 146,419,132 (GRCm39) |
N49I |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,285,866 (GRCm39) |
V849I |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,204,602 (GRCm39) |
D59G |
probably damaging |
Het |
| Iars1 |
G |
A |
13: 49,876,553 (GRCm39) |
|
probably null |
Het |
| Ifi27l2a |
C |
T |
12: 103,403,941 (GRCm39) |
A127V |
possibly damaging |
Het |
| Ikbip |
A |
G |
10: 90,932,343 (GRCm39) |
N329S |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,193,614 (GRCm39) |
T479A |
probably benign |
Het |
| Krt12 |
T |
A |
11: 99,306,886 (GRCm39) |
N472I |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,743,025 (GRCm39) |
L193Q |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,704,401 (GRCm39) |
V128A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,039,917 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 41,004,852 (GRCm39) |
T575A |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,225,402 (GRCm39) |
A256T |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,888,408 (GRCm39) |
Y14H |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,366,644 (GRCm39) |
T552A |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,759,087 (GRCm39) |
F127S |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,965,614 (GRCm39) |
S1733T |
probably benign |
Het |
| Or11a4 |
T |
C |
17: 37,536,321 (GRCm39) |
F102L |
probably benign |
Het |
| Or4c102 |
A |
G |
2: 88,422,780 (GRCm39) |
I211V |
probably benign |
Het |
| Or4c10b |
G |
A |
2: 89,711,473 (GRCm39) |
G101E |
probably damaging |
Het |
| Or6z1 |
T |
G |
7: 6,504,440 (GRCm39) |
I262L |
probably benign |
Het |
| Or8b44 |
A |
G |
9: 38,410,334 (GRCm39) |
Y123C |
probably damaging |
Het |
| Paqr7 |
A |
T |
4: 134,234,409 (GRCm39) |
I89F |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,019,543 (GRCm39) |
V706L |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,620,911 (GRCm39) |
I469N |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,179,028 (GRCm39) |
Y233H |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,886,340 (GRCm39) |
T166A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,733,368 (GRCm39) |
I753L |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,841,566 (GRCm39) |
K50R |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rgs20 |
C |
T |
1: 4,980,863 (GRCm39) |
R154Q |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,178,628 (GRCm39) |
D1449G |
probably damaging |
Het |
| Sema4g |
C |
T |
19: 44,990,044 (GRCm39) |
R708* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,181,254 (GRCm39) |
I18T |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 33,162,041 (GRCm39) |
E280G |
probably damaging |
Het |
| Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,158 (GRCm39) |
W554* |
probably null |
Het |
| Slco1a4 |
A |
C |
6: 141,758,457 (GRCm39) |
I518R |
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,890,373 (GRCm39) |
Q26L |
probably benign |
Het |
| Stox1 |
A |
G |
10: 62,503,744 (GRCm39) |
F104L |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,662,518 (GRCm39) |
K638E |
possibly damaging |
Het |
| Synpo |
T |
C |
18: 60,735,856 (GRCm39) |
K458E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,229,565 (GRCm39) |
W2820R |
unknown |
Het |
| Tmtc1 |
C |
A |
6: 148,196,116 (GRCm39) |
G499W |
probably damaging |
Het |
| Tonsl |
A |
C |
15: 76,522,266 (GRCm39) |
S242R |
probably damaging |
Het |
| Trpc4 |
G |
T |
3: 54,102,243 (GRCm39) |
S47I |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,350,909 (GRCm39) |
R1581C |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,594,801 (GRCm39) |
L388P |
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 |
|
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'- CTGGGTTGAGTAGAAAGCTCATGGC -3'
(R):5'- ATCCAATTCGTGTGTTCCCCAGG -3'
Sequencing Primer
(F):5'- acttagaaatccgcctgcc -3'
(R):5'- GTGTTCCCCAGGCTACAGAAAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation