Incidental Mutation 'R9144:Gabbr1'
| ID |
694525 |
| 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 |
068935-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.644)
|
| Stock # |
R9144 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37356888-37385197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37362049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 218
(K218E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025338]
[ENSMUST00000172789]
[ENSMUST00000172792]
[ENSMUST00000173823]
[ENSMUST00000174347]
[ENSMUST00000174456]
|
| AlphaFold |
Q9WV18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025338
AA Change: K218E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025338
Gene: ENSMUSG00000024462
AA Change: K218E
| 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
AA Change: K102E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134268
Gene: ENSMUSG00000024462
AA Change: K102E
| 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 |
probably benign
Transcript: ENSMUST00000174347
AA Change: K102E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134346
Gene: ENSMUSG00000024462
AA Change: K102E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
C |
T |
9: 44,192,708 (GRCm39) |
V176M |
possibly damaging |
Het |
| Acp5 |
T |
C |
9: 22,041,242 (GRCm39) |
T62A |
probably benign |
Het |
| Alad |
A |
T |
4: 62,430,257 (GRCm39) |
D88E |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,047,602 (GRCm39) |
I803T |
probably damaging |
Het |
| Bckdhb |
C |
A |
9: 83,894,662 (GRCm39) |
T312K |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,722,667 (GRCm39) |
V138A |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,978,512 (GRCm39) |
Y176C |
probably damaging |
Het |
| Creld1 |
A |
T |
6: 113,461,468 (GRCm39) |
T63S |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,639 (GRCm39) |
T878I |
possibly damaging |
Het |
| Ehbp1 |
C |
T |
11: 22,018,463 (GRCm39) |
R873H |
probably damaging |
Het |
| Eml2 |
T |
C |
7: 18,935,564 (GRCm39) |
V466A |
possibly damaging |
Het |
| Ercc5 |
T |
A |
1: 44,213,511 (GRCm39) |
Y836N |
probably damaging |
Het |
| Fgf20 |
T |
C |
8: 40,732,958 (GRCm39) |
D160G |
|
Het |
| Fgfr4 |
A |
T |
13: 55,315,837 (GRCm39) |
|
probably null |
Het |
| Fpr1 |
A |
T |
17: 18,097,626 (GRCm39) |
V121D |
probably damaging |
Het |
| Galnt12 |
T |
C |
4: 47,113,822 (GRCm39) |
L372P |
|
Het |
| Gldc |
A |
G |
19: 30,114,593 (GRCm39) |
F439S |
|
Het |
| Gm6465 |
A |
G |
5: 11,896,726 (GRCm39) |
T32A |
possibly damaging |
Het |
| Has2 |
T |
C |
15: 56,545,588 (GRCm39) |
R5G |
probably benign |
Het |
| Hexb |
T |
C |
13: 97,317,599 (GRCm39) |
Y366C |
probably damaging |
Het |
| Ier2 |
C |
T |
8: 85,389,266 (GRCm39) |
V39I |
probably benign |
Het |
| Ifi214 |
A |
G |
1: 173,355,434 (GRCm39) |
S125P |
possibly damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,451 (GRCm39) |
D230G |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,927,558 (GRCm39) |
Y140F |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,427,055 (GRCm39) |
V140A |
probably damaging |
Het |
| Klra5 |
C |
T |
6: 129,886,911 (GRCm39) |
C39Y |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,856,426 (GRCm39) |
I699M |
probably damaging |
Het |
| Mak |
C |
A |
13: 41,201,594 (GRCm39) |
E256* |
probably null |
Het |
| Mark3 |
C |
A |
12: 111,606,376 (GRCm39) |
N496K |
probably benign |
Het |
| Mex3c |
A |
G |
18: 73,723,397 (GRCm39) |
T497A |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,467,805 (GRCm39) |
I1160V |
possibly damaging |
Het |
| Notch1 |
T |
C |
2: 26,349,587 (GRCm39) |
T2518A |
probably benign |
Het |
| Nsg1 |
A |
G |
5: 38,302,088 (GRCm39) |
Y108H |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,960,103 (GRCm39) |
S3255P |
possibly damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,482 (GRCm39) |
T246A |
probably benign |
Het |
| Plxna4 |
A |
G |
6: 32,162,496 (GRCm39) |
V1339A |
possibly damaging |
Het |
| Ppp2r5e |
C |
T |
12: 75,506,468 (GRCm39) |
R433H |
possibly damaging |
Het |
| Pwwp2a |
T |
A |
11: 43,596,721 (GRCm39) |
C629S |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,473 (GRCm39) |
S56R |
probably benign |
Het |
| Rhob |
A |
G |
12: 8,549,124 (GRCm39) |
V170A |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,003,900 (GRCm39) |
N1803K |
probably benign |
Het |
| Rmdn3 |
G |
T |
2: 118,969,847 (GRCm39) |
Q405K |
probably benign |
Het |
| Rpap3 |
G |
A |
15: 97,589,184 (GRCm39) |
T250M |
possibly damaging |
Het |
| Rraga |
T |
C |
4: 86,494,796 (GRCm39) |
I214T |
probably damaging |
Het |
| Rundc3a |
A |
T |
11: 102,290,862 (GRCm39) |
Q315L |
probably benign |
Het |
| Sh3bgr |
T |
A |
16: 96,001,931 (GRCm39) |
S10T |
probably benign |
Het |
| Skint6 |
A |
T |
4: 112,985,102 (GRCm39) |
S421R |
possibly damaging |
Het |
| Spag16 |
G |
C |
1: 70,420,459 (GRCm39) |
L482F |
probably damaging |
Het |
| Sppl2a |
A |
G |
2: 126,769,743 (GRCm39) |
S38P |
probably benign |
Het |
| Tex14 |
T |
A |
11: 87,413,423 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
G |
A |
17: 6,346,048 (GRCm39) |
V181M |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,294 (GRCm39) |
S502T |
probably benign |
Het |
| Trav9n-4 |
T |
G |
14: 53,532,236 (GRCm39) |
V30G |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,765,122 (GRCm39) |
V960L |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,173,649 (GRCm39) |
D1492E |
unknown |
Het |
| Usp44 |
A |
G |
10: 93,681,645 (GRCm39) |
T32A |
probably benign |
Het |
| Vmn1r38 |
A |
G |
6: 66,753,612 (GRCm39) |
M168T |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,788 (GRCm39) |
I288V |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,676,794 (GRCm39) |
T2615A |
possibly 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 |
|
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 |
|
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'- TTCCCCAGAAGAAGTGTCCC -3'
(R):5'- CCTACTGCCTTCAAGAGAGTCG -3'
Sequencing Primer
(F):5'- CCTCTTCTGCTGGTGATGGC -3'
(R):5'- TTCAAGAGAGTCGGCCTTCAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation