Incidental Mutation 'R7028:Gabbr1'
| ID |
546160 |
| 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 |
045129-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R7028 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 37375629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Stop codon
at position 453
(G453*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172792]
[ENSMUST00000173823]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025338
AA Change: G569*
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: G569*
| 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 null
Transcript: ENSMUST00000172792
AA Change: G453*
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: G453*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,096,019 (GRCm39) |
I804T |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,855,441 (GRCm39) |
E25V |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,886,774 (GRCm39) |
Y355* |
probably null |
Het |
| Akp3 |
A |
G |
1: 87,054,500 (GRCm39) |
M303V |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,590,650 (GRCm39) |
E312V |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,373,294 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
T |
C |
2: 153,242,027 (GRCm39) |
L859P |
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,897 (GRCm39) |
F11L |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,608,075 (GRCm39) |
H943Q |
unknown |
Het |
| Cep135 |
A |
G |
5: 76,764,695 (GRCm39) |
T558A |
probably benign |
Het |
| Cfap99 |
A |
G |
5: 34,458,863 (GRCm39) |
E86G |
possibly damaging |
Het |
| Cfhr2 |
C |
T |
1: 139,758,801 (GRCm39) |
|
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
G |
A |
19: 47,640,622 (GRCm39) |
P992L |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,792,331 (GRCm39) |
Q1294* |
probably null |
Het |
| Coq8b |
T |
A |
7: 26,939,293 (GRCm39) |
C148S |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,171,021 (GRCm39) |
N338S |
|
Het |
| Cspg5 |
T |
A |
9: 110,075,959 (GRCm39) |
S232T |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,341 (GRCm39) |
V201A |
possibly damaging |
Het |
| Dlgap3 |
G |
A |
4: 127,089,310 (GRCm39) |
R302H |
possibly damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,539,547 (GRCm39) |
I469V |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,343,412 (GRCm39) |
D401G |
probably damaging |
Het |
| Gclc |
C |
A |
9: 77,695,498 (GRCm39) |
A440D |
probably damaging |
Het |
| Glyat |
T |
C |
19: 12,627,723 (GRCm39) |
I106T |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,799,071 (GRCm39) |
N474S |
possibly damaging |
Het |
| Gm17079 |
T |
C |
14: 51,930,494 (GRCm39) |
H117R |
|
Het |
| Ift70a2 |
A |
T |
2: 75,806,613 (GRCm39) |
L633* |
probably null |
Het |
| Ildr2 |
A |
G |
1: 166,131,098 (GRCm39) |
D318G |
probably damaging |
Het |
| Kcnd2 |
G |
A |
6: 21,216,177 (GRCm39) |
|
probably benign |
Het |
| Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
| Kif3a |
G |
T |
11: 53,477,733 (GRCm39) |
G401* |
probably null |
Het |
| Lactbl1 |
T |
A |
4: 136,360,286 (GRCm39) |
L155Q |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,136,023 (GRCm39) |
D1649V |
probably benign |
Het |
| Lrrc37 |
C |
T |
11: 103,505,363 (GRCm39) |
A26T |
probably benign |
Het |
| Map2k1 |
A |
G |
9: 64,101,105 (GRCm39) |
V191A |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,931,547 (GRCm39) |
C165S |
probably benign |
Het |
| Med27 |
G |
A |
2: 29,399,446 (GRCm39) |
W92* |
probably null |
Het |
| Muc20 |
A |
T |
16: 32,614,616 (GRCm39) |
S254T |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,111,247 (GRCm39) |
E1562G |
possibly damaging |
Het |
| Nlrp2 |
C |
G |
7: 5,331,571 (GRCm39) |
R275P |
possibly damaging |
Het |
| Notch2 |
T |
A |
3: 98,009,703 (GRCm39) |
N543K |
probably damaging |
Het |
| Nup214 |
T |
A |
2: 31,924,168 (GRCm39) |
S1566T |
probably benign |
Het |
| Nxnl1 |
T |
G |
8: 72,015,437 (GRCm39) |
E157A |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,969,959 (GRCm39) |
L61P |
probably damaging |
Het |
| Ogg1 |
A |
T |
6: 113,306,237 (GRCm39) |
I145F |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,641 (GRCm39) |
T197A |
probably benign |
Het |
| Or2b2 |
A |
G |
13: 21,887,440 (GRCm39) |
K90E |
possibly damaging |
Het |
| Or2f1 |
G |
A |
6: 42,721,337 (GRCm39) |
R122H |
probably benign |
Het |
| Or51h5 |
T |
C |
7: 102,577,149 (GRCm39) |
F105L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,763,461 (GRCm39) |
D3978G |
unknown |
Het |
| Pla2g4e |
T |
G |
2: 120,000,676 (GRCm39) |
D687A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,288,737 (GRCm39) |
K632E |
probably damaging |
Het |
| Plg |
A |
T |
17: 12,610,723 (GRCm39) |
Q212L |
probably damaging |
Het |
| Poldip3 |
A |
T |
15: 83,015,698 (GRCm39) |
N306K |
probably damaging |
Het |
| Pspn |
A |
G |
17: 57,306,978 (GRCm39) |
L13P |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,844 (GRCm39) |
E484G |
probably damaging |
Het |
| Rbmxl1 |
G |
T |
8: 79,233,286 (GRCm39) |
T19K |
probably damaging |
Het |
| Rora |
G |
A |
9: 69,103,365 (GRCm39) |
V31I |
possibly damaging |
Het |
| Skint5 |
C |
A |
4: 113,798,036 (GRCm39) |
W182C |
probably damaging |
Het |
| Spata31d1c |
A |
T |
13: 65,183,877 (GRCm39) |
Q473L |
probably damaging |
Het |
| Tesk2 |
G |
A |
4: 116,659,884 (GRCm39) |
W334* |
probably null |
Het |
| Tmem67 |
C |
A |
4: 12,075,484 (GRCm39) |
V277L |
probably benign |
Het |
| Trhde |
A |
G |
10: 114,354,082 (GRCm39) |
M537T |
probably damaging |
Het |
| Tubb6 |
G |
A |
18: 67,534,981 (GRCm39) |
M293I |
probably benign |
Het |
| Ube2ql1 |
A |
T |
13: 69,886,873 (GRCm39) |
L196Q |
probably damaging |
Het |
| Ubn1 |
A |
T |
16: 4,873,188 (GRCm39) |
N70I |
probably damaging |
Het |
| Ubtf |
A |
T |
11: 102,205,806 (GRCm39) |
S40T |
probably benign |
Het |
| Virma |
C |
T |
4: 11,519,249 (GRCm39) |
A782V |
possibly damaging |
Het |
| Xdh |
G |
T |
17: 74,250,868 (GRCm39) |
T28K |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,834,508 (GRCm39) |
S691P |
probably benign |
Het |
| Zfat |
A |
C |
15: 68,052,301 (GRCm39) |
F491V |
probably damaging |
Het |
| Zfp623 |
T |
G |
15: 75,820,154 (GRCm39) |
V370G |
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 |
|
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 |
|
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'- GGGTCCTTACAGCATCCTTG -3'
(R):5'- TTTAAGTCCCACCCACTGAAGC -3'
Sequencing Primer
(F):5'- GGTCCTTACAGCATCCTTGAGTTG -3'
(R):5'- CACCCACTGAAGCAGAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation