Incidental Mutation 'R5109:Gabbr1'
| ID |
393771 |
| 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 |
042697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R5109 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 37382920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
|
| 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: 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 |
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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
95% (78/82) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
T |
C |
5: 90,391,395 (GRCm39) |
S1841G |
possibly damaging |
Het |
| Anxa10 |
T |
C |
8: 62,516,093 (GRCm39) |
E193G |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,545,284 (GRCm39) |
S1056G |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,214,242 (GRCm39) |
N62D |
probably damaging |
Het |
| Apobec2 |
A |
T |
17: 48,730,022 (GRCm39) |
Y215N |
probably damaging |
Het |
| Apobec2 |
T |
A |
17: 48,730,024 (GRCm39) |
Y214F |
probably damaging |
Het |
| Appl2 |
A |
T |
10: 83,436,871 (GRCm39) |
V630E |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,877 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,580,797 (GRCm39) |
M683K |
possibly damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,373,293 (GRCm39) |
D187E |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,773,753 (GRCm39) |
F96L |
probably benign |
Het |
| Cimap1a |
A |
T |
7: 140,429,461 (GRCm39) |
S197C |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,906,295 (GRCm39) |
|
probably benign |
Het |
| Crocc |
C |
T |
4: 140,755,722 (GRCm39) |
R1102Q |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,329 (GRCm39) |
D273G |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,414,221 (GRCm39) |
T865A |
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,491,788 (GRCm39) |
I8F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,279,887 (GRCm39) |
F97L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Doc2b |
T |
C |
11: 75,667,967 (GRCm39) |
D261G |
probably benign |
Het |
| Ear1 |
A |
G |
14: 44,056,485 (GRCm39) |
Y128H |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,883,142 (GRCm39) |
I171N |
probably damaging |
Het |
| Entpd3 |
C |
A |
9: 120,395,380 (GRCm39) |
N454K |
possibly damaging |
Het |
| Flrt3 |
A |
G |
2: 140,502,663 (GRCm39) |
S322P |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,688,394 (GRCm39) |
C170Y |
probably damaging |
Het |
| Gm7247 |
T |
G |
14: 51,602,774 (GRCm39) |
S37A |
probably damaging |
Het |
| Gm8775 |
T |
A |
3: 4,277,008 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gria4 |
A |
C |
9: 4,472,168 (GRCm39) |
N440K |
probably damaging |
Het |
| H2-T22 |
T |
A |
17: 36,350,113 (GRCm39) |
R334* |
probably null |
Het |
| Ift172 |
T |
C |
5: 31,423,330 (GRCm39) |
D817G |
probably benign |
Het |
| Igkv9-124 |
T |
A |
6: 67,919,348 (GRCm39) |
R21S |
possibly damaging |
Het |
| Itgam |
G |
A |
7: 127,712,390 (GRCm39) |
V846I |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,373,063 (GRCm39) |
M94K |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,154,085 (GRCm39) |
V2A |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,101,933 (GRCm39) |
D400G |
probably damaging |
Het |
| Man2a1 |
T |
A |
17: 65,059,443 (GRCm39) |
V1110E |
probably benign |
Het |
| Mfsd9 |
T |
A |
1: 40,813,365 (GRCm39) |
I317F |
probably damaging |
Het |
| Mindy4 |
A |
T |
6: 55,193,730 (GRCm39) |
|
probably null |
Het |
| Mrpl53 |
A |
G |
6: 83,086,541 (GRCm39) |
T82A |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,925,637 (GRCm39) |
K35E |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,515,650 (GRCm39) |
V1717A |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,257,070 (GRCm39) |
V143A |
probably damaging |
Het |
| Ndufa9 |
A |
C |
6: 126,809,520 (GRCm39) |
|
probably null |
Het |
| Or10ag60 |
G |
A |
2: 87,438,319 (GRCm39) |
G196R |
possibly damaging |
Het |
| Or10ag60 |
G |
A |
2: 87,437,755 (GRCm39) |
A8T |
possibly damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,878 (GRCm39) |
M1V |
probably null |
Het |
| Or5k17 |
A |
G |
16: 58,746,422 (GRCm39) |
S171P |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,104 (GRCm39) |
S167P |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,272,438 (GRCm39) |
I71N |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,668 (GRCm39) |
V247M |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,458,741 (GRCm39) |
A466S |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,491,162 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
A |
G |
17: 88,866,268 (GRCm39) |
K355E |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
| Rbms1 |
G |
A |
2: 60,612,284 (GRCm39) |
L161F |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,702,672 (GRCm39) |
D83G |
probably damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,361 (GRCm39) |
R910* |
probably null |
Het |
| Sema4c |
CTGGGCTT |
C |
1: 36,591,381 (GRCm39) |
|
probably null |
Het |
| Spata31e5 |
T |
C |
1: 28,816,636 (GRCm39) |
I465M |
possibly damaging |
Het |
| Stambp |
A |
G |
6: 83,540,803 (GRCm39) |
|
probably null |
Het |
| Tcf21 |
T |
C |
10: 22,695,558 (GRCm39) |
N82S |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,030 (GRCm39) |
V351D |
probably damaging |
Het |
| Tmem39a |
G |
A |
16: 38,411,326 (GRCm39) |
G359D |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r17 |
C |
A |
5: 109,577,342 (GRCm39) |
F464L |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,204 (GRCm39) |
T843S |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,088 (GRCm39) |
D823G |
probably null |
Het |
| Wrnip1 |
T |
A |
13: 33,000,319 (GRCm39) |
L442Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,062 (GRCm39) |
S674Y |
probably damaging |
Het |
| Zfp639 |
T |
G |
3: 32,574,585 (GRCm39) |
|
probably null |
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 |
|
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'- CAGGTCCTGTGTCTCATTACCG -3'
(R):5'- TTCCTTCTCCAACAGTCGGG -3'
Sequencing Primer
(F):5'- ATTACCGCTCCTGTCACCATG -3'
(R):5'- CTCCAACAGTCGGGACTTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation