Incidental Mutation 'R8706:Adra2b'
| ID |
669263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adra2b
|
| Ensembl Gene |
ENSMUSG00000058620 |
| Gene Name |
adrenergic receptor, alpha 2b |
| Synonyms |
alpha2B, [a]2B, a2b-AR, Adra-2b |
| MMRRC Submission |
068560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.828)
|
| Stock # |
R8706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
127205128-127209141 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127206487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 335
(T335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071902]
[ENSMUST00000104934]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071902
AA Change: T335A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071798
Gene: ENSMUSG00000058620
AA Change: T335A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
23 |
168 |
1.7e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
25 |
159 |
9.5e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
28 |
218 |
1.2e-10 |
PFAM |
|
Pfam:7tm_1
|
34 |
429 |
6.8e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104934
AA Change: T330A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100539
Gene: ENSMUSG00000058620
AA Change: T330A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
20 |
154 |
4e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
23 |
213 |
1.9e-10 |
PFAM |
|
Pfam:7tm_1
|
29 |
424 |
7e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous null mice exhibit poor survival and breeding, lack the vasoconstrictor response to alpha2-adrenergic receptor agonists, and display background strain dependent postnatal respiratory failure. Heterozygotes show an attenuated hypertensive response to subtotal nephrectomy and salt loading. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adpgk |
C |
T |
9: 59,222,456 (GRCm39) |
T461I |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,545,353 (GRCm39) |
|
probably null |
Het |
| C1rl |
T |
C |
6: 124,470,191 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
A |
G |
6: 83,080,678 (GRCm39) |
E470G |
probably damaging |
Het |
| Ccm2 |
T |
A |
11: 6,539,447 (GRCm39) |
I163N |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,157,562 (GRCm39) |
F1596L |
probably benign |
Het |
| Chrna4 |
A |
T |
2: 180,679,307 (GRCm39) |
F47I |
probably damaging |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,876 (GRCm39) |
T294A |
probably benign |
Het |
| Dcun1d4 |
C |
T |
5: 73,714,658 (GRCm39) |
T275M |
probably damaging |
Het |
| Dpp4 |
T |
C |
2: 62,208,647 (GRCm39) |
I166V |
probably benign |
Het |
| Dynap |
C |
T |
18: 70,374,062 (GRCm39) |
E155K |
unknown |
Het |
| Fam171b |
A |
G |
2: 83,690,864 (GRCm39) |
T276A |
probably benign |
Het |
| Fmo4 |
G |
A |
1: 162,621,592 (GRCm39) |
Q540* |
probably null |
Het |
| Gtf2i |
C |
A |
5: 134,278,733 (GRCm39) |
V633F |
probably damaging |
Het |
| Kmt5c |
G |
T |
7: 4,749,153 (GRCm39) |
R262L |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Mrps27 |
T |
C |
13: 99,541,508 (GRCm39) |
V163A |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,453,669 (GRCm39) |
|
probably null |
Het |
| Myo15a |
A |
G |
11: 60,370,443 (GRCm39) |
T1068A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,145,010 (GRCm39) |
E369G |
unknown |
Het |
| Neb |
T |
A |
2: 52,181,326 (GRCm39) |
M1094L |
probably benign |
Het |
| Osbpl10 |
T |
C |
9: 115,036,688 (GRCm39) |
L228P |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,787,765 (GRCm39) |
R799S |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,456,472 (GRCm39) |
S99P |
probably benign |
Het |
| Rassf5 |
G |
T |
1: 131,172,782 (GRCm39) |
T29N |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,776 (GRCm39) |
K370E |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,644,404 (GRCm39) |
S147C |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,569,134 (GRCm39) |
T27253I |
probably damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,715 (GRCm39) |
V15E |
possibly damaging |
Het |
| Wnt6 |
A |
C |
1: 74,821,947 (GRCm39) |
D176A |
possibly damaging |
Het |
|
| Other mutations in Adra2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03181:Adra2b
|
APN |
2 |
127,205,903 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0081:Adra2b
|
UTSW |
2 |
127,206,212 (GRCm39) |
missense |
probably benign |
|
|
R1964:Adra2b
|
UTSW |
2 |
127,205,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2265:Adra2b
|
UTSW |
2 |
127,205,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3156:Adra2b
|
UTSW |
2 |
127,205,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3818:Adra2b
|
UTSW |
2 |
127,205,755 (GRCm39) |
nonsense |
probably null |
|
|
R4818:Adra2b
|
UTSW |
2 |
127,206,012 (GRCm39) |
nonsense |
probably null |
|
|
R5893:Adra2b
|
UTSW |
2 |
127,206,402 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8197:Adra2b
|
UTSW |
2 |
127,206,578 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8518:Adra2b
|
UTSW |
2 |
127,206,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Adra2b
|
UTSW |
2 |
127,206,417 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8955:Adra2b
|
UTSW |
2 |
127,205,504 (GRCm39) |
missense |
probably benign |
|
|
R9104:Adra2b
|
UTSW |
2 |
127,205,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Adra2b
|
UTSW |
2 |
127,206,283 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Adra2b
|
UTSW |
2 |
127,205,958 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTGTCGGAGAGGCTAATG -3'
(R):5'- CCAGGCTGTAGCTGAAGAAG -3'
Sequencing Primer
(F):5'- CTGAAGATCCCGAAGCCAGG -3'
(R):5'- CTGTAGCTGAAGAAGAAAGGAAACC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation