Incidental Mutation 'R6167:Gabbr1'
| ID |
490221 |
| 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 |
044313-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R6167 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37374271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 538
(I538T)
|
| 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: I538T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: I538T
| 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: I422T
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: I422T
| 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: ENSMUST00000174181
|
| Meta Mutation Damage Score |
0.8148 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (50/51) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,182,931 (GRCm39) |
E1042V |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,747,750 (GRCm39) |
E1035G |
probably benign |
Het |
| Aip |
T |
G |
19: 4,165,188 (GRCm39) |
D227A |
probably benign |
Het |
| Ankrd13d |
T |
C |
19: 4,323,081 (GRCm39) |
H283R |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,303,094 (GRCm39) |
T1175I |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,723,700 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,187 (GRCm39) |
S41P |
probably damaging |
Het |
| Ceacam16 |
G |
A |
7: 19,595,182 (GRCm39) |
|
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,626 (GRCm39) |
N524D |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 105,928,077 (GRCm39) |
Y43F |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,433,287 (GRCm39) |
I453V |
probably benign |
Het |
| Etv1 |
A |
T |
12: 38,915,640 (GRCm39) |
T413S |
possibly damaging |
Het |
| Evx2 |
A |
C |
2: 74,489,606 (GRCm39) |
L53R |
probably damaging |
Het |
| Fam168b |
G |
A |
1: 34,858,684 (GRCm39) |
A166V |
probably damaging |
Het |
| Fancm |
A |
T |
12: 65,141,669 (GRCm39) |
Y430F |
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,661 (GRCm39) |
T188A |
possibly damaging |
Het |
| Glyctk |
T |
A |
9: 106,033,691 (GRCm39) |
T208S |
possibly damaging |
Het |
| Golga7 |
T |
C |
8: 23,735,904 (GRCm39) |
D114G |
probably damaging |
Het |
| Grip1 |
T |
C |
10: 119,733,702 (GRCm39) |
|
probably null |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,161 (GRCm39) |
S351R |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,721,642 (GRCm39) |
L300P |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,997,481 (GRCm39) |
S45G |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,190 (GRCm39) |
M825K |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,315 (GRCm39) |
I236V |
probably benign |
Het |
| Large2 |
G |
A |
2: 92,197,433 (GRCm39) |
T354I |
probably benign |
Het |
| Mak |
C |
A |
13: 41,206,828 (GRCm39) |
V101F |
probably benign |
Het |
| Mylk2 |
A |
G |
2: 152,757,673 (GRCm39) |
|
probably null |
Het |
| Myo18b |
A |
T |
5: 113,020,373 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,037,249 (GRCm39) |
H2955L |
probably benign |
Het |
| Neurl1a |
G |
C |
19: 47,228,367 (GRCm39) |
G71A |
probably damaging |
Het |
| Ogfrl1 |
A |
T |
1: 23,415,309 (GRCm39) |
L142Q |
probably damaging |
Het |
| Or11g27 |
C |
A |
14: 50,771,612 (GRCm39) |
H248N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,556,160 (GRCm39) |
T242A |
probably damaging |
Het |
| P3h4 |
C |
A |
11: 100,302,671 (GRCm39) |
A322S |
probably damaging |
Het |
| Piwil2 |
A |
C |
14: 70,660,342 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,297 (GRCm39) |
D435G |
probably damaging |
Het |
| Plekha6 |
A |
G |
1: 133,207,145 (GRCm39) |
N567S |
probably null |
Het |
| Prss54 |
G |
A |
8: 96,286,173 (GRCm39) |
P300L |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,024,000 (GRCm39) |
R67Q |
probably damaging |
Het |
| Rapgef3 |
C |
A |
15: 97,665,292 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,782,550 (GRCm39) |
G1147S |
possibly damaging |
Het |
| Sh2b3 |
A |
T |
5: 121,966,418 (GRCm39) |
|
probably null |
Het |
| Sh3glb1 |
A |
T |
3: 144,397,664 (GRCm39) |
D358E |
probably damaging |
Het |
| Shmt2 |
C |
T |
10: 127,353,731 (GRCm39) |
R478H |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,637,671 (GRCm39) |
E399G |
probably benign |
Het |
| Slc22a23 |
T |
A |
13: 34,528,542 (GRCm39) |
Y80F |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,377 (GRCm39) |
V272A |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,446,474 (GRCm39) |
D308V |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,707,657 (GRCm39) |
I1698V |
possibly damaging |
Het |
| Thoc5 |
G |
A |
11: 4,865,497 (GRCm39) |
V359M |
probably benign |
Het |
| Tmpo |
C |
T |
10: 90,998,800 (GRCm39) |
R329H |
probably benign |
Het |
| Trim8 |
T |
C |
19: 46,503,626 (GRCm39) |
S393P |
probably benign |
Het |
| Vill |
A |
T |
9: 118,895,932 (GRCm39) |
Y103F |
probably damaging |
Het |
| Zfp948 |
T |
G |
17: 21,807,911 (GRCm39) |
F368V |
probably benign |
Het |
| Zpld1 |
C |
T |
16: 55,053,962 (GRCm39) |
E277K |
probably 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 |
|
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'- CGGACGGATGCCATAAATAGCC -3'
(R):5'- GCCCCTTTGAAAGAACAGAATC -3'
Sequencing Primer
(F):5'- CGGATGCCATAAATAGCCTTCATTC -3'
(R):5'- TGCAAAGATCCTACCCATGTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation