Incidental Mutation 'R6215:Gabbr1'
ID |
503680 |
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 |
044348-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.644)
|
Stock # |
R6215 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37380257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 604
(D604G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
|
AlphaFold |
Q9WV18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025338
AA Change: D720G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025338 Gene: ENSMUSG00000024462 AA Change: D720G
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: D604G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134268 Gene: ENSMUSG00000024462 AA Change: D604G
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 |
0.9416 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
95% (42/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Cd79b |
C |
A |
11: 106,203,267 (GRCm39) |
|
probably null |
Het |
Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
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 |
|
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 |
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'- GGTCCACACAGTCTTCACAAAG -3'
(R):5'- AGTTCTCTCCTGGAGCAGCTTC -3'
Sequencing Primer
(F):5'- TTCACAAAGAAGGAGGAGAAGAAG -3'
(R):5'- GGCCTGGAACTCATCATGTAGAC -3'
|
Posted On |
2018-02-27 |