Incidental Mutation 'R6763:Adra1b'
| ID |
531786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adra1b
|
| Ensembl Gene |
ENSMUSG00000050541 |
| Gene Name |
adrenergic receptor, alpha 1b |
| Synonyms |
alpha1B-adrenergic receptor |
| MMRRC Submission |
044879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6763 (G1)
|
| Quality Score |
106.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
43665433-43792037 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43666833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 468
(L468P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067258]
[ENSMUST00000139906]
[ENSMUST00000167574]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067258
AA Change: L468P
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000070200
Gene: ENSMUSG00000050541
AA Change: L468P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
54 |
182 |
1.3e-6 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
363 |
3.7e-17 |
PFAM |
|
Pfam:7tm_1
|
62 |
348 |
7.9e-84 |
PFAM |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139906
|
| SMART Domains |
Protein: ENSMUSP00000123435
Gene: ENSMUSG00000050541
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
54 |
183 |
4.4e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
363 |
1.8e-17 |
PFAM |
|
Pfam:7tm_1
|
62 |
348 |
2.7e-84 |
PFAM |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167574
AA Change: L468P
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129200
Gene: ENSMUSG00000050541
AA Change: L468P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
54 |
182 |
8.5e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
56 |
363 |
3.7e-17 |
PFAM |
|
Pfam:7tm_1
|
62 |
348 |
1.2e-79 |
PFAM |
|
low complexity region
|
368 |
381 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutations that inactivate the gene affect atrial contractility and left ventricle function, suggesting their use in modeling chronic heart failure in humans. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
C |
A |
15: 102,248,457 (GRCm39) |
R286L |
probably null |
Het |
| Actrt2 |
A |
G |
4: 154,751,836 (GRCm39) |
V100A |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,776,022 (GRCm39) |
E1457G |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,398,255 (GRCm39) |
M974L |
possibly damaging |
Het |
| Atp8a2 |
T |
A |
14: 60,245,857 (GRCm39) |
I612F |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,582,564 (GRCm39) |
L284P |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,776,930 (GRCm39) |
M1106K |
probably benign |
Het |
| Ccbe1 |
A |
T |
18: 66,194,459 (GRCm39) |
F376I |
possibly damaging |
Het |
| Ceacam14 |
A |
G |
7: 17,549,268 (GRCm39) |
T220A |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,704,549 (GRCm39) |
D344G |
probably damaging |
Het |
| Chaf1b |
A |
G |
16: 93,688,393 (GRCm39) |
K163E |
probably damaging |
Het |
| Clec2d |
C |
A |
6: 129,161,107 (GRCm39) |
T68K |
probably benign |
Het |
| Cwc27 |
T |
C |
13: 104,947,809 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,668,050 (GRCm39) |
Y1519F |
possibly damaging |
Het |
| E130308A19Rik |
A |
T |
4: 59,752,288 (GRCm39) |
K467M |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,944,208 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,231 (GRCm39) |
Y629C |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,053,868 (GRCm39) |
N470D |
unknown |
Het |
| Lmtk2 |
T |
A |
5: 144,110,615 (GRCm39) |
I445N |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,570 (GRCm39) |
D1508G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,021 (GRCm39) |
H2989R |
probably benign |
Het |
| Niban2 |
T |
C |
2: 32,801,460 (GRCm39) |
|
probably null |
Het |
| Nln |
A |
T |
13: 104,172,163 (GRCm39) |
W638R |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,671,017 (GRCm39) |
I127V |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,165,379 (GRCm39) |
R672* |
probably null |
Het |
| Prkcb |
A |
G |
7: 122,193,887 (GRCm39) |
Y532C |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,395,279 (GRCm39) |
|
probably null |
Het |
| Rab11fip5 |
A |
G |
6: 85,319,152 (GRCm39) |
L579S |
probably benign |
Het |
| Rtca |
A |
G |
3: 116,301,398 (GRCm39) |
|
probably null |
Het |
| Sdccag8 |
A |
G |
1: 176,682,193 (GRCm39) |
|
probably null |
Het |
| Svil |
G |
T |
18: 5,056,437 (GRCm39) |
D524Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,560,636 (GRCm39) |
N788S |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,764,469 (GRCm39) |
R2140S |
probably damaging |
Het |
| Zfp518a |
A |
G |
19: 40,902,192 (GRCm39) |
K707R |
probably damaging |
Het |
|
| Other mutations in Adra1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01775:Adra1b
|
APN |
11 |
43,726,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1827:Adra1b
|
UTSW |
11 |
43,726,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Adra1b
|
UTSW |
11 |
43,726,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Adra1b
|
UTSW |
11 |
43,726,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Adra1b
|
UTSW |
11 |
43,667,028 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6787:Adra1b
|
UTSW |
11 |
43,726,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Adra1b
|
UTSW |
11 |
43,667,151 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7402:Adra1b
|
UTSW |
11 |
43,666,845 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7491:Adra1b
|
UTSW |
11 |
43,726,794 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7819:Adra1b
|
UTSW |
11 |
43,726,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Adra1b
|
UTSW |
11 |
43,726,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Adra1b
|
UTSW |
11 |
43,727,092 (GRCm39) |
start gained |
probably benign |
|
|
R9098:Adra1b
|
UTSW |
11 |
43,667,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9102:Adra1b
|
UTSW |
11 |
43,667,056 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9194:Adra1b
|
UTSW |
11 |
43,726,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTCTACTCAGGACTGACAC -3'
(R):5'- ATGACAGTGGCAGCTGCATG -3'
Sequencing Primer
(F):5'- AACCCCCGATGTGTGTGTG -3'
(R):5'- GCATGAGCGGCAGCCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation