Incidental Mutation 'R1763:Gabbr1'
| ID |
193236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gabbr1
|
| Ensembl Gene |
ENSMUSG00000024462 |
| Gene Name |
gamma-aminobutyric acid (GABA) B receptor, 1 |
| Synonyms |
GABAB1, GABAbR1 |
| MMRRC Submission |
039795-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.678)
|
| Stock # |
R1763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37045966-37075067 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 37054767 bp (GRCm38)
|
| 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 |
|---|
| Abca4 |
G |
A |
3: 122,110,681 (GRCm38) |
V794M |
probably benign |
Het |
| Abca4 |
A |
T |
3: 122,163,830 (GRCm38) |
T772S |
probably damaging |
Het |
| Acox3 |
G |
A |
5: 35,608,339 (GRCm38) |
|
probably null |
Het |
| Adamts17 |
A |
G |
7: 67,147,715 (GRCm38) |
N1060S |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,332,483 (GRCm38) |
R511H |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,174,991 (GRCm38) |
Y1346C |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,585,015 (GRCm38) |
F321I |
probably benign |
Het |
| Atp5f1 |
A |
G |
3: 105,951,589 (GRCm38) |
|
probably null |
Het |
| Bloc1s5 |
A |
G |
13: 38,619,084 (GRCm38) |
|
probably benign |
Het |
| Btbd9 |
T |
C |
17: 30,334,297 (GRCm38) |
N397S |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,099,196 (GRCm38) |
V1121A |
probably benign |
Het |
| Cad |
G |
A |
5: 31,060,951 (GRCm38) |
V460I |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,843,121 (GRCm38) |
D935E |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,354,636 (GRCm38) |
K686N |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,799,406 (GRCm38) |
F186L |
possibly damaging |
Het |
| Cd5l |
G |
A |
3: 87,367,880 (GRCm38) |
|
probably null |
Het |
| Chrna7 |
A |
G |
7: 63,099,252 (GRCm38) |
V494A |
probably benign |
Het |
| Clec2i |
T |
G |
6: 128,895,425 (GRCm38) |
Y198* |
probably null |
Het |
| Col22a1 |
A |
G |
15: 72,007,176 (GRCm38) |
V44A |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,886,979 (GRCm38) |
I666N |
probably damaging |
Het |
| Cyp3a16 |
A |
T |
5: 145,465,031 (GRCm38) |
|
probably null |
Het |
| Dlk1 |
G |
T |
12: 109,458,119 (GRCm38) |
C102F |
probably damaging |
Het |
| Dscc1 |
CTGAATGAAT |
CTGAAT |
15: 55,080,176 (GRCm38) |
|
probably benign |
Het |
| Dscc1 |
T |
A |
15: 55,084,139 (GRCm38) |
H215L |
probably damaging |
Het |
| Dus1l |
C |
G |
11: 120,795,671 (GRCm38) |
G15R |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,471,823 (GRCm38) |
V268L |
probably benign |
Het |
| F2 |
A |
C |
2: 91,634,906 (GRCm38) |
C104W |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,192,535 (GRCm38) |
Q860K |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,502,266 (GRCm38) |
L74P |
unknown |
Het |
| Frmd6 |
G |
A |
12: 70,893,622 (GRCm38) |
R347Q |
possibly damaging |
Het |
| Galc |
T |
C |
12: 98,234,266 (GRCm38) |
N295S |
probably damaging |
Het |
| Gm436 |
A |
G |
4: 144,669,959 (GRCm38) |
V401A |
probably benign |
Het |
| Gm6408 |
A |
T |
5: 146,482,322 (GRCm38) |
N49I |
probably damaging |
Het |
| Grm1 |
T |
A |
10: 11,079,866 (GRCm38) |
T225S |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,285,867 (GRCm38) |
V849I |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,314,590 (GRCm38) |
D59G |
probably damaging |
Het |
| Iars |
G |
A |
13: 49,723,077 (GRCm38) |
|
probably null |
Het |
| Ifi27 |
C |
T |
12: 103,437,682 (GRCm38) |
A127V |
possibly damaging |
Het |
| Ikbip |
A |
G |
10: 91,096,481 (GRCm38) |
N329S |
probably damaging |
Het |
| Ikbke |
T |
C |
1: 131,265,877 (GRCm38) |
T479A |
probably benign |
Het |
| Krt12 |
T |
A |
11: 99,416,060 (GRCm38) |
N472I |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,907,191 (GRCm38) |
L193Q |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,650,252 (GRCm38) |
V128A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,000,757 (GRCm38) |
|
probably benign |
Het |
| Mtmr7 |
T |
C |
8: 40,551,811 (GRCm38) |
T575A |
probably benign |
Het |
| Myh13 |
G |
A |
11: 67,334,576 (GRCm38) |
A256T |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,683,410 (GRCm38) |
Y14H |
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,459,337 (GRCm38) |
T552A |
probably damaging |
Het |
| Nudt15 |
A |
G |
14: 73,521,647 (GRCm38) |
F127S |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,808,271 (GRCm38) |
S1733T |
probably benign |
Het |
| Olfr1189 |
A |
G |
2: 88,592,436 (GRCm38) |
I211V |
probably benign |
Het |
| Olfr1257 |
G |
A |
2: 89,881,129 (GRCm38) |
G101E |
probably damaging |
Het |
| Olfr1348 |
T |
G |
7: 6,501,441 (GRCm38) |
I262L |
probably benign |
Het |
| Olfr907 |
A |
G |
9: 38,499,038 (GRCm38) |
Y123C |
probably damaging |
Het |
| Olfr96 |
T |
C |
17: 37,225,430 (GRCm38) |
F102L |
probably benign |
Het |
| Paqr7 |
A |
T |
4: 134,507,098 (GRCm38) |
I89F |
probably benign |
Het |
| Pidd1 |
C |
A |
7: 141,439,630 (GRCm38) |
V706L |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,713,595 (GRCm38) |
I469N |
probably damaging |
Het |
| Ppip5k1 |
A |
G |
2: 121,348,547 (GRCm38) |
Y233H |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 91,055,995 (GRCm38) |
T166A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,842,542 (GRCm38) |
I753L |
probably benign |
Het |
| Rad21 |
T |
C |
15: 51,978,170 (GRCm38) |
K50R |
probably damaging |
Het |
| Rad54b |
A |
G |
4: 11,604,989 (GRCm38) |
E479G |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 111,288,242 (GRCm38) |
R326Q |
probably damaging |
Het |
| Rgs20 |
C |
T |
1: 4,910,640 (GRCm38) |
R154Q |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,294,425 (GRCm38) |
D1449G |
probably damaging |
Het |
| Sema4g |
C |
T |
19: 45,001,605 (GRCm38) |
R708* |
probably null |
Het |
| Sept9 |
T |
C |
11: 117,290,428 (GRCm38) |
I18T |
probably benign |
Het |
| Serpinb6b |
A |
G |
13: 32,978,058 (GRCm38) |
E280G |
probably damaging |
Het |
| Slamf6 |
T |
C |
1: 171,942,587 (GRCm38) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 45,287,734 (GRCm38) |
W554* |
probably null |
Het |
| Slco1a4 |
A |
C |
6: 141,812,731 (GRCm38) |
I518R |
probably benign |
Het |
| Stab1 |
T |
A |
14: 31,168,416 (GRCm38) |
Q26L |
probably benign |
Het |
| Stox1 |
A |
G |
10: 62,667,965 (GRCm38) |
F104L |
probably damaging |
Het |
| Suco |
T |
C |
1: 161,834,949 (GRCm38) |
K638E |
possibly damaging |
Het |
| Synpo |
T |
C |
18: 60,602,784 (GRCm38) |
K458E |
probably damaging |
Het |
| Szt2 |
A |
T |
4: 118,372,368 (GRCm38) |
W2820R |
unknown |
Het |
| Tmtc1 |
C |
A |
6: 148,294,618 (GRCm38) |
G499W |
probably damaging |
Het |
| Tonsl |
A |
C |
15: 76,638,066 (GRCm38) |
S242R |
probably damaging |
Het |
| Trpc4 |
G |
T |
3: 54,194,822 (GRCm38) |
S47I |
possibly damaging |
Het |
| Zfp106 |
G |
A |
2: 120,520,428 (GRCm38) |
R1581C |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,895,376 (GRCm38) |
L388P |
possibly damaging |
Het |
|
| Other mutations in Gabbr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Gabbr1
|
APN |
17 |
37,048,443 (GRCm38) |
nonsense |
probably null |
|
|
IGL01309:Gabbr1
|
APN |
17 |
37,048,607 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01413:Gabbr1
|
APN |
17 |
37,062,706 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01568:Gabbr1
|
APN |
17 |
37,070,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01845:Gabbr1
|
APN |
17 |
37,048,414 (GRCm38) |
splice site |
probably benign |
|
|
IGL02083:Gabbr1
|
APN |
17 |
37,070,065 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02302:Gabbr1
|
APN |
17 |
37,054,797 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02430:Gabbr1
|
APN |
17 |
37,056,308 (GRCm38) |
nonsense |
probably null |
|
|
IGL02533:Gabbr1
|
APN |
17 |
37,072,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02810:Gabbr1
|
APN |
17 |
37,062,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
H8562:Gabbr1
|
UTSW |
17 |
37,071,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4449001:Gabbr1
|
UTSW |
17 |
37,056,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0025:Gabbr1
|
UTSW |
17 |
37,067,210 (GRCm38) |
intron |
probably benign |
|
|
R0420:Gabbr1
|
UTSW |
17 |
37,046,762 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R0464:Gabbr1
|
UTSW |
17 |
37,050,834 (GRCm38) |
unclassified |
probably benign |
|
|
R1306:Gabbr1
|
UTSW |
17 |
37,055,990 (GRCm38) |
splice site |
probably null |
|
|
R1412:Gabbr1
|
UTSW |
17 |
37,054,913 (GRCm38) |
splice site |
probably null |
|
|
R1495:Gabbr1
|
UTSW |
17 |
37,055,940 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1612:Gabbr1
|
UTSW |
17 |
37,070,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1658:Gabbr1
|
UTSW |
17 |
37,047,507 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1779:Gabbr1
|
UTSW |
17 |
37,054,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1964:Gabbr1
|
UTSW |
17 |
37,048,459 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1996:Gabbr1
|
UTSW |
17 |
37,069,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2014:Gabbr1
|
UTSW |
17 |
37,056,782 (GRCm38) |
splice site |
probably null |
|
|
R2255:Gabbr1
|
UTSW |
17 |
37,071,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4299:Gabbr1
|
UTSW |
17 |
37,055,900 (GRCm38) |
nonsense |
probably null |
|
|
R4458:Gabbr1
|
UTSW |
17 |
37,067,775 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4510:Gabbr1
|
UTSW |
17 |
37,069,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4511:Gabbr1
|
UTSW |
17 |
37,069,211 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4571:Gabbr1
|
UTSW |
17 |
37,054,236 (GRCm38) |
nonsense |
probably null |
|
|
R4597:Gabbr1
|
UTSW |
17 |
37,056,899 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R5109:Gabbr1
|
UTSW |
17 |
37,072,028 (GRCm38) |
intron |
probably benign |
|
|
R5119:Gabbr1
|
UTSW |
17 |
37,048,438 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5227:Gabbr1
|
UTSW |
17 |
37,070,066 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5253:Gabbr1
|
UTSW |
17 |
37,055,913 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5443:Gabbr1
|
UTSW |
17 |
37,070,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5485:Gabbr1
|
UTSW |
17 |
37,056,875 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5839:Gabbr1
|
UTSW |
17 |
37,067,868 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5976:Gabbr1
|
UTSW |
17 |
37,067,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6156:Gabbr1
|
UTSW |
17 |
37,048,427 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6167:Gabbr1
|
UTSW |
17 |
37,063,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6214:Gabbr1
|
UTSW |
17 |
37,069,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6215:Gabbr1
|
UTSW |
17 |
37,069,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6348:Gabbr1
|
UTSW |
17 |
37,056,899 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6721:Gabbr1
|
UTSW |
17 |
37,054,192 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7028:Gabbr1
|
UTSW |
17 |
37,064,737 (GRCm38) |
nonsense |
probably null |
|
|
R7317:Gabbr1
|
UTSW |
17 |
37,069,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7786:Gabbr1
|
UTSW |
17 |
37,070,063 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7793:Gabbr1
|
UTSW |
17 |
37,047,501 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7833:Gabbr1
|
UTSW |
17 |
37,056,969 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8110:Gabbr1
|
UTSW |
17 |
37,048,583 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8318:Gabbr1
|
UTSW |
17 |
37,062,543 (GRCm38) |
missense |
probably benign |
0.23 |
|
R8774:Gabbr1
|
UTSW |
17 |
37,071,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Gabbr1
|
UTSW |
17 |
37,071,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8890:Gabbr1
|
UTSW |
17 |
37,047,544 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9144:Gabbr1
|
UTSW |
17 |
37,051,157 (GRCm38) |
missense |
probably benign |
|
|
R9292:Gabbr1
|
UTSW |
17 |
37,055,892 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9359:Gabbr1
|
UTSW |
17 |
37,070,713 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0010:Gabbr1
|
UTSW |
17 |
37,070,780 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Gabbr1
|
UTSW |
17 |
37,048,424 (GRCm38) |
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