Incidental Mutation 'R3818:Adra2b'
ID |
274768 |
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 |
040772-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.839)
|
Stock # |
R3818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
127205128-127209141 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 127205755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 86
(E86*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071902]
[ENSMUST00000104934]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000071902
AA Change: E91*
|
SMART Domains |
Protein: ENSMUSP00000071798 Gene: ENSMUSG00000058620 AA Change: E91*
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 null
Transcript: ENSMUST00000104934
AA Change: E86*
|
SMART Domains |
Protein: ENSMUSP00000100539 Gene: ENSMUSG00000058620 AA Change: E86*
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 |
|
Meta Mutation Damage Score |
0.9711 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (34/34) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
Het |
Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
Rbm26 |
A |
T |
14: 105,378,706 (GRCm39) |
L594I |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
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 |
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 |
R8706:Adra2b
|
UTSW |
2 |
127,206,487 (GRCm39) |
missense |
probably benign |
|
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'- GCAATGCGCTGGTAATTCTG -3'
(R):5'- TCTTGGTTGAGCTCACACTG -3'
Sequencing Primer
(F):5'- AATTCTGGCTGTGTTGACCAGC -3'
(R):5'- TTGAGCTCACACTGGGGGAG -3'
|
Posted On |
2015-04-02 |