Incidental Mutation 'R0464:Gabbr1'
| ID |
474168 |
| 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 |
038664-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R0464 (G1)
|
| Quality Score |
92 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 37361726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172789]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
[ENSMUST00000174456]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025338
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
| 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: ENSMUST00000172789
|
| SMART Domains |
Protein: ENSMUSP00000134580
Gene: ENSMUSG00000024462
| 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 |
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 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 |
probably benign
Transcript: ENSMUST00000174456
|
| SMART Domains |
Protein: ENSMUSP00000134409
Gene: ENSMUSG00000024462
| 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 |
noncoding transcript
Transcript: ENSMUST00000174826
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174866
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
100% (80/80) |
| 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 |
|---|
| Ada |
G |
T |
2: 163,574,884 (GRCm39) |
Y84* |
probably null |
Het |
| Adar |
T |
A |
3: 89,642,889 (GRCm39) |
C257S |
possibly damaging |
Het |
| Adgrd1 |
G |
T |
5: 129,239,714 (GRCm39) |
C507F |
probably damaging |
Het |
| Atp5f1a |
T |
C |
18: 77,867,622 (GRCm39) |
Y299H |
probably benign |
Het |
| Bok |
G |
T |
1: 93,621,935 (GRCm39) |
R77L |
probably damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Ceacam1 |
A |
G |
7: 25,171,442 (GRCm39) |
S341P |
possibly damaging |
Het |
| Cfhr3 |
A |
T |
1: 139,521,683 (GRCm39) |
|
noncoding transcript |
Het |
| Ckap5 |
A |
G |
2: 91,409,858 (GRCm39) |
I947V |
probably benign |
Het |
| Clec2i |
T |
C |
6: 128,872,386 (GRCm39) |
Y173H |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,408,690 (GRCm39) |
D977G |
possibly damaging |
Het |
| Cyp2f2 |
C |
A |
7: 26,831,962 (GRCm39) |
Q406K |
probably benign |
Het |
| Ddx28 |
A |
G |
8: 106,736,685 (GRCm39) |
S458P |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,605,492 (GRCm39) |
|
probably null |
Het |
| Dusp10 |
C |
A |
1: 183,801,273 (GRCm39) |
L347I |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fbxl15 |
A |
T |
19: 46,316,951 (GRCm39) |
E13D |
probably benign |
Het |
| Fhit |
T |
A |
14: 10,991,567 (GRCm38) |
|
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,784,662 (GRCm39) |
V882F |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Ganc |
T |
A |
2: 120,267,175 (GRCm39) |
V497D |
probably benign |
Het |
| Glt8d2 |
T |
G |
10: 82,490,564 (GRCm39) |
H242P |
possibly damaging |
Het |
| Gna15 |
T |
C |
10: 81,348,338 (GRCm39) |
Y131C |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,371,712 (GRCm39) |
K609E |
unknown |
Het |
| Gprc5a |
A |
T |
6: 135,056,413 (GRCm39) |
K287* |
probably null |
Het |
| Iqub |
T |
A |
6: 24,479,262 (GRCm39) |
K427* |
probably null |
Het |
| Itpr2 |
C |
G |
6: 146,277,387 (GRCm39) |
D666H |
probably damaging |
Het |
| Kcnj5 |
T |
C |
9: 32,234,269 (GRCm39) |
I15M |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,693,426 (GRCm39) |
E334G |
probably damaging |
Het |
| Lypd6 |
T |
A |
2: 50,080,690 (GRCm39) |
I126N |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,089,801 (GRCm39) |
L28P |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,455,511 (GRCm39) |
D56G |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,498,571 (GRCm39) |
D889G |
probably damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Nab1 |
T |
C |
1: 52,529,174 (GRCm39) |
D241G |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncbp3 |
C |
T |
11: 72,960,647 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,525,307 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,447,615 (GRCm39) |
V2452A |
probably benign |
Het |
| Nlrp1b |
A |
C |
11: 71,109,070 (GRCm39) |
S144A |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,640,597 (GRCm39) |
|
probably null |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC" |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Paox |
T |
A |
7: 139,709,195 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
A |
10: 74,462,676 (GRCm39) |
|
probably null |
Het |
| Pde8b |
G |
A |
13: 95,241,206 (GRCm39) |
T202M |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,019,814 (GRCm39) |
V905D |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 98,926,796 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,139,998 (GRCm39) |
N87S |
probably benign |
Het |
| Rbl1 |
C |
A |
2: 156,989,465 (GRCm39) |
K1051N |
probably damaging |
Het |
| Rfx7 |
T |
C |
9: 72,525,486 (GRCm39) |
V892A |
probably damaging |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf144b |
T |
A |
13: 47,396,363 (GRCm39) |
Y233* |
probably null |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,063,783 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
A |
T |
1: 58,039,253 (GRCm39) |
K85N |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,921,279 (GRCm39) |
C631S |
probably damaging |
Het |
| Simc1 |
C |
T |
13: 54,684,913 (GRCm39) |
R50* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,392,928 (GRCm39) |
M1235L |
unknown |
Het |
| Slc22a19 |
A |
T |
19: 7,660,278 (GRCm39) |
N377K |
probably benign |
Het |
| Spata31d1a |
A |
G |
13: 59,849,573 (GRCm39) |
F852L |
possibly damaging |
Het |
| Spata31e3 |
A |
G |
13: 50,402,311 (GRCm39) |
|
probably benign |
Het |
| Srbd1 |
G |
A |
17: 86,427,430 (GRCm39) |
S401F |
probably damaging |
Het |
| Stk36 |
C |
A |
1: 74,650,331 (GRCm39) |
Q288K |
probably damaging |
Het |
| Styx |
T |
C |
14: 45,609,908 (GRCm39) |
S191P |
probably benign |
Het |
| Supt6 |
T |
A |
11: 78,107,164 (GRCm39) |
N1214I |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,644 (GRCm39) |
D90V |
probably damaging |
Het |
| Tdpoz1 |
T |
A |
3: 93,578,782 (GRCm39) |
M1L |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,085,141 (GRCm39) |
T881S |
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,275 (GRCm39) |
A193V |
probably benign |
Het |
| Tmem117 |
T |
A |
15: 94,612,800 (GRCm39) |
F112Y |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,651,375 (GRCm39) |
R1633W |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,220,649 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,851,186 (GRCm39) |
R447G |
possibly damaging |
Het |
| Trip6 |
A |
G |
5: 137,311,943 (GRCm39) |
F46S |
probably damaging |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,081,872 (GRCm39) |
|
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,255 (GRCm39) |
I156F |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,123,427 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
G |
T |
12: 9,077,472 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
C |
T |
4: 19,638,763 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
C |
11: 95,654,475 (GRCm39) |
C293R |
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 |
|
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 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation