Incidental Mutation 'R1612:Gabbr1'
ID |
176896 |
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 |
039649-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
R1612 (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 37381561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 775
(Y775C)
|
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: Y775C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025338 Gene: ENSMUSG00000024462 AA Change: Y775C
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: Y659C
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000134268 Gene: ENSMUSG00000024462 AA Change: Y659C
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
|
Meta Mutation Damage Score |
0.4358 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
97% (69/71) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579G24Rik |
A |
G |
3: 79,538,451 (GRCm39) |
T66A |
probably benign |
Het |
Actb |
A |
G |
5: 142,891,350 (GRCm39) |
F31S |
probably damaging |
Het |
Adamts7 |
T |
C |
9: 90,070,750 (GRCm39) |
S624P |
possibly damaging |
Het |
Adh7 |
T |
C |
3: 137,934,642 (GRCm39) |
I355T |
possibly damaging |
Het |
Arhgef40 |
A |
G |
14: 52,241,538 (GRCm39) |
E106G |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,245 (GRCm39) |
V1483A |
possibly damaging |
Het |
Cabp7 |
T |
C |
11: 4,689,198 (GRCm39) |
D149G |
probably damaging |
Het |
Cass4 |
A |
T |
2: 172,268,998 (GRCm39) |
Q362L |
possibly damaging |
Het |
Cd14 |
G |
A |
18: 36,858,718 (GRCm39) |
Q246* |
probably null |
Het |
Cdr2l |
A |
C |
11: 115,284,232 (GRCm39) |
E189D |
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,654,748 (GRCm39) |
V991A |
probably damaging |
Het |
Coq7 |
A |
G |
7: 118,109,134 (GRCm39) |
W305R |
unknown |
Het |
Cracr2a |
G |
T |
6: 127,580,892 (GRCm39) |
G23* |
probably null |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Epcam |
T |
C |
17: 87,947,366 (GRCm39) |
L40P |
possibly damaging |
Het |
Eps8 |
G |
A |
6: 137,477,616 (GRCm39) |
P531S |
probably benign |
Het |
Faap100 |
C |
A |
11: 120,267,914 (GRCm39) |
L286F |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,194,824 (GRCm39) |
C1446S |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,795,454 (GRCm39) |
V127A |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,341,490 (GRCm39) |
D1261G |
probably damaging |
Het |
Gbp11 |
G |
T |
5: 105,474,462 (GRCm39) |
Q405K |
possibly damaging |
Het |
Gdi2 |
T |
A |
13: 3,610,051 (GRCm39) |
V260E |
probably benign |
Het |
Glp2r |
C |
T |
11: 67,633,033 (GRCm39) |
V98M |
possibly damaging |
Het |
Gm13741 |
T |
C |
2: 87,486,431 (GRCm39) |
Y278C |
probably damaging |
Het |
Gm7732 |
G |
A |
17: 21,350,177 (GRCm39) |
|
noncoding transcript |
Het |
Gnptab |
T |
A |
10: 88,264,344 (GRCm39) |
|
probably null |
Het |
Hbs1l |
T |
G |
10: 21,234,734 (GRCm39) |
F596V |
probably damaging |
Het |
Krt78 |
A |
T |
15: 101,860,279 (GRCm39) |
|
probably null |
Het |
Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
Lcmt2 |
T |
C |
2: 120,969,601 (GRCm39) |
Y274C |
probably damaging |
Het |
Limd1 |
A |
G |
9: 123,347,219 (GRCm39) |
Y620C |
probably damaging |
Het |
Lvrn |
G |
T |
18: 47,027,770 (GRCm39) |
A862S |
probably damaging |
Het |
Map4k2 |
A |
G |
19: 6,393,371 (GRCm39) |
E206G |
probably damaging |
Het |
Med16 |
A |
G |
10: 79,735,079 (GRCm39) |
S461P |
probably damaging |
Het |
Mrfap1 |
C |
A |
5: 36,953,706 (GRCm39) |
A78S |
probably damaging |
Het |
Nav2 |
T |
A |
7: 49,220,959 (GRCm39) |
N1715K |
probably damaging |
Het |
Ndc1 |
A |
G |
4: 107,252,265 (GRCm39) |
|
probably benign |
Het |
Ngly1 |
G |
T |
14: 16,290,867 (GRCm38) |
G450* |
probably null |
Het |
Or13c25 |
T |
A |
4: 52,911,501 (GRCm39) |
M98L |
probably benign |
Het |
Or5k3 |
T |
C |
16: 58,969,987 (GRCm39) |
M258T |
probably benign |
Het |
Pde3b |
T |
A |
7: 114,118,791 (GRCm39) |
Y643* |
probably null |
Het |
Pdilt |
T |
G |
7: 119,086,198 (GRCm39) |
N506H |
possibly damaging |
Het |
Pear1 |
C |
T |
3: 87,659,160 (GRCm39) |
|
probably null |
Het |
Pfkp |
A |
T |
13: 6,638,625 (GRCm39) |
M582K |
probably damaging |
Het |
Pigl |
T |
A |
11: 62,403,820 (GRCm39) |
F251I |
probably benign |
Het |
Plk3 |
A |
G |
4: 116,989,004 (GRCm39) |
Y252H |
probably damaging |
Het |
Prdx3 |
A |
G |
19: 60,862,872 (GRCm39) |
S12P |
possibly damaging |
Het |
Prkag2 |
T |
C |
5: 25,082,026 (GRCm39) |
I96V |
probably benign |
Het |
Pwwp3a |
T |
A |
10: 80,068,889 (GRCm39) |
|
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,544,172 (GRCm39) |
V146M |
probably damaging |
Het |
Serpinh1 |
T |
C |
7: 98,998,138 (GRCm39) |
D164G |
probably damaging |
Het |
Slc35d2 |
T |
C |
13: 64,259,324 (GRCm39) |
|
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,718,008 (GRCm39) |
N316D |
probably damaging |
Het |
Snx14 |
A |
T |
9: 88,258,958 (GRCm39) |
M973K |
possibly damaging |
Het |
Sptan1 |
C |
G |
2: 29,893,348 (GRCm39) |
R1126G |
probably damaging |
Het |
Stpg3 |
T |
C |
2: 25,103,866 (GRCm39) |
T157A |
probably benign |
Het |
Tmem39b |
A |
T |
4: 129,580,715 (GRCm39) |
M259K |
possibly damaging |
Het |
Tomm40l |
A |
T |
1: 171,049,471 (GRCm39) |
|
probably null |
Het |
Tsen34 |
G |
T |
7: 3,698,395 (GRCm39) |
G180W |
probably damaging |
Het |
Ube2l6 |
C |
T |
2: 84,636,717 (GRCm39) |
R54W |
probably damaging |
Het |
Vdac1 |
A |
T |
11: 52,274,897 (GRCm39) |
T182S |
probably benign |
Het |
Wdr3 |
T |
C |
3: 100,058,515 (GRCm39) |
|
probably benign |
Het |
Wsb1 |
T |
A |
11: 79,139,411 (GRCm39) |
Q95L |
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 |
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 |
PCR Primer
(F):5'- GGCCAGCTCCTGAAAGTAAGTGAC -3'
(R):5'- ATGGCCCATTTCCAGGACCAAC -3'
Sequencing Primer
(F):5'- TTCTAGCCGCTCCATAGGAAG -3'
(R):5'- CCAACGCCAGGTGTCAAG -3'
|
Posted On |
2014-04-24 |