Incidental Mutation 'R4510:Gabbr1'
| ID |
331234 |
| 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 |
041585-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R4510 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37380103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 697
(K697E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025338
AA Change: K697E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: K697E
| 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: ENSMUST00000172792
AA Change: K581E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: K581E
| 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 |
noncoding transcript
Transcript: ENSMUST00000174071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174181
|
| Meta Mutation Damage Score |
0.2890 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
96% (50/52) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,100,819 (GRCm39) |
D397E |
probably benign |
Het |
| Abcc10 |
A |
G |
17: 46,618,136 (GRCm39) |
F1005L |
probably damaging |
Het |
| Ackr4 |
T |
C |
9: 103,975,930 (GRCm39) |
E339G |
probably benign |
Het |
| Adam39 |
G |
T |
8: 41,279,328 (GRCm39) |
C573F |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,346,652 (GRCm39) |
T651A |
probably benign |
Het |
| Aoc1 |
C |
A |
6: 48,884,740 (GRCm39) |
H594Q |
probably damaging |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
T |
7: 30,423,678 (GRCm39) |
E928* |
probably null |
Het |
| Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,320,629 (GRCm39) |
T206A |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,777,497 (GRCm39) |
W182* |
probably null |
Het |
| Bltp2 |
T |
C |
11: 78,168,154 (GRCm39) |
S1530P |
possibly damaging |
Het |
| Cacna1e |
G |
A |
1: 154,437,579 (GRCm39) |
T257I |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,961,938 (GRCm39) |
Y345C |
probably benign |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,473 (GRCm39) |
R248W |
probably damaging |
Het |
| Dclk3 |
C |
A |
9: 111,297,060 (GRCm39) |
H201Q |
probably benign |
Het |
| Ddx17 |
A |
T |
15: 79,422,793 (GRCm39) |
V315E |
probably damaging |
Het |
| Dhrs11 |
T |
C |
11: 84,716,342 (GRCm39) |
*51W |
probably null |
Het |
| Fgfr4 |
C |
A |
13: 55,309,328 (GRCm39) |
P455Q |
possibly damaging |
Het |
| Gcnt1 |
G |
A |
19: 17,307,641 (GRCm39) |
T28I |
probably benign |
Het |
| Gga2 |
G |
A |
7: 121,620,301 (GRCm39) |
T4M |
unknown |
Het |
| Gm12185 |
T |
A |
11: 48,799,305 (GRCm39) |
H396L |
possibly damaging |
Het |
| Gm21976 |
A |
G |
13: 98,441,839 (GRCm39) |
R123G |
probably benign |
Het |
| Hecw1 |
A |
C |
13: 14,531,776 (GRCm39) |
V166G |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,241,295 (GRCm39) |
V372A |
possibly damaging |
Het |
| Igkv2-109 |
A |
G |
6: 68,279,962 (GRCm39) |
Y61C |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,875,050 (GRCm39) |
F789S |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,175,280 (GRCm39) |
D496G |
possibly damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,511 (GRCm39) |
T547A |
possibly damaging |
Het |
| Insrr |
C |
A |
3: 87,715,978 (GRCm39) |
P558T |
possibly damaging |
Het |
| Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
| Irak3 |
T |
A |
10: 119,981,813 (GRCm39) |
H393L |
probably damaging |
Het |
| Isx |
G |
A |
8: 75,600,298 (GRCm39) |
M10I |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,668,870 (GRCm39) |
D709G |
probably damaging |
Het |
| Kcng2 |
G |
T |
18: 80,338,930 (GRCm39) |
R453S |
probably benign |
Het |
| Kif5b |
A |
G |
18: 6,214,011 (GRCm39) |
V664A |
probably benign |
Het |
| Lalba |
A |
G |
15: 98,380,422 (GRCm39) |
L44P |
probably benign |
Het |
| Ldlrad1 |
T |
G |
4: 107,066,715 (GRCm39) |
F17V |
probably benign |
Het |
| Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,429,717 (GRCm39) |
Y451C |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,310,406 (GRCm39) |
N2722K |
possibly damaging |
Het |
| Mctp1 |
G |
A |
13: 76,973,391 (GRCm39) |
V431I |
probably benign |
Het |
| Mmrn2 |
T |
C |
14: 34,125,016 (GRCm39) |
F866L |
possibly damaging |
Het |
| Mylk2 |
A |
G |
2: 152,759,330 (GRCm39) |
E367G |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,678,794 (GRCm39) |
S865P |
probably damaging |
Het |
| Nol6 |
G |
C |
4: 41,123,526 (GRCm39) |
T74R |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,637 (GRCm39) |
M2100T |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,418,841 (GRCm39) |
K667R |
possibly damaging |
Het |
| Phlda3 |
A |
G |
1: 135,694,400 (GRCm39) |
T72A |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,105,270 (GRCm39) |
Q758R |
probably benign |
Het |
| Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
| Pramel19 |
A |
T |
4: 101,798,757 (GRCm39) |
M243L |
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,439,762 (GRCm39) |
D355G |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,382,652 (GRCm39) |
Y398H |
probably damaging |
Het |
| Ripk1 |
T |
C |
13: 34,210,731 (GRCm39) |
Y309H |
probably damaging |
Het |
| Rngtt |
A |
T |
4: 33,339,032 (GRCm39) |
Q279L |
possibly damaging |
Het |
| Rusf1 |
A |
T |
7: 127,875,312 (GRCm39) |
F319Y |
probably damaging |
Het |
| Samd4 |
T |
A |
14: 47,315,042 (GRCm39) |
V114D |
probably benign |
Het |
| Sec23ip |
G |
A |
7: 128,380,900 (GRCm39) |
E956K |
probably damaging |
Het |
| Slc4a1ap |
A |
T |
5: 31,684,747 (GRCm39) |
T128S |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,834,858 (GRCm39) |
I6F |
probably benign |
Het |
| Slc6a19 |
A |
C |
13: 73,832,094 (GRCm39) |
L494R |
probably damaging |
Het |
| Slc6a21 |
A |
G |
7: 44,936,713 (GRCm39) |
D189G |
probably damaging |
Het |
| Slc7a1 |
G |
T |
5: 148,277,372 (GRCm39) |
A381D |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,923,980 (GRCm39) |
|
probably null |
Het |
| Stk19 |
T |
C |
17: 35,051,504 (GRCm39) |
E17G |
probably damaging |
Het |
| Tekt5 |
A |
C |
16: 10,175,877 (GRCm39) |
V556G |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,544,070 (GRCm39) |
F2029L |
probably benign |
Het |
| Thnsl1 |
T |
C |
2: 21,217,236 (GRCm39) |
V330A |
probably damaging |
Het |
| Tnfrsf21 |
A |
G |
17: 43,375,910 (GRCm39) |
D432G |
probably damaging |
Het |
| Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
| Tnrc6c |
A |
T |
11: 117,633,784 (GRCm39) |
N1294I |
possibly damaging |
Het |
| Trpm3 |
A |
G |
19: 22,965,381 (GRCm39) |
I1625M |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,773 (GRCm39) |
V25040E |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,633,853 (GRCm39) |
N19D |
possibly damaging |
Het |
| Washc2 |
A |
T |
6: 116,197,517 (GRCm39) |
D250V |
probably damaging |
Het |
| Xpo1 |
A |
G |
11: 23,237,401 (GRCm39) |
T755A |
possibly damaging |
Het |
| Zfp462 |
C |
T |
4: 55,008,934 (GRCm39) |
T300I |
possibly damaging |
Het |
| Zfp937 |
A |
C |
2: 150,080,431 (GRCm39) |
T154P |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,778,996 (GRCm39) |
D1819G |
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 |
|
|
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 |
|
|
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'- AGAATACCCTGGTGCTGTAGC -3'
(R):5'- GTCCACAATCTGCCAGATGG -3'
Sequencing Primer
(F):5'- ATGGGTGAATGCAGACCCCTTC -3'
(R):5'- GCAAGAGTCAGGATATCCATGCC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation