Incidental Mutation 'R3156:Adra2b'
ID |
263488 |
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 |
040607-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.839)
|
Stock # |
R3156 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
127205128-127209141 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127205570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 29
(L29P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071798
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071902]
[ENSMUST00000104934]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071902
AA Change: L29P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071798 Gene: ENSMUSG00000058620 AA Change: L29P
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 damaging
Transcript: ENSMUST00000104934
AA Change: L24P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100539 Gene: ENSMUSG00000058620 AA Change: L24P
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 |
0.4260 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (39/40) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
Atad1 |
A |
T |
19: 32,684,355 (GRCm39) |
N14K |
probably benign |
Het |
Cbl |
T |
C |
9: 44,070,147 (GRCm39) |
I533M |
possibly damaging |
Het |
Cdca2 |
T |
C |
14: 67,935,612 (GRCm39) |
N368D |
possibly damaging |
Het |
Cfap45 |
A |
T |
1: 172,373,291 (GRCm39) |
N543Y |
possibly damaging |
Het |
Col4a2 |
T |
A |
8: 11,363,414 (GRCm39) |
|
probably benign |
Het |
Dis3l |
T |
C |
9: 64,219,032 (GRCm39) |
T633A |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,438,237 (GRCm39) |
|
probably benign |
Het |
Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
Gcnt2 |
T |
C |
13: 41,014,654 (GRCm39) |
V275A |
probably benign |
Het |
Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
Hmgcs1 |
C |
T |
13: 120,166,614 (GRCm39) |
T402I |
probably benign |
Het |
Hps6 |
A |
G |
19: 45,992,180 (GRCm39) |
D39G |
probably damaging |
Het |
Mab21l4 |
T |
A |
1: 93,087,764 (GRCm39) |
I30F |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,446,179 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
Neo1 |
T |
C |
9: 58,796,262 (GRCm39) |
|
probably null |
Het |
Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,250,720 (GRCm39) |
|
probably null |
Het |
Patj |
A |
G |
4: 98,562,465 (GRCm39) |
E1478G |
probably damaging |
Het |
Paxbp1 |
T |
C |
16: 90,832,878 (GRCm39) |
T304A |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
Secisbp2 |
A |
G |
13: 51,816,711 (GRCm39) |
T288A |
probably benign |
Het |
Setbp1 |
A |
G |
18: 78,902,518 (GRCm39) |
V383A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,844,605 (GRCm39) |
S143T |
possibly damaging |
Het |
Slc5a9 |
A |
T |
4: 111,747,421 (GRCm39) |
I322N |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,260,016 (GRCm39) |
|
probably null |
Het |
Tex2 |
A |
G |
11: 106,424,695 (GRCm39) |
|
probably null |
Het |
Tonsl |
A |
T |
15: 76,523,721 (GRCm39) |
L64Q |
probably damaging |
Het |
Triml2 |
A |
G |
8: 43,640,716 (GRCm39) |
N191D |
probably benign |
Het |
Trpc1 |
C |
T |
9: 95,603,185 (GRCm39) |
|
probably null |
Het |
Yeats4 |
C |
T |
10: 117,058,186 (GRCm39) |
V22I |
probably benign |
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 |
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 |
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'- ATAGATGGTCCTGGGTGTCC -3'
(R):5'- GTACAGAAGAGCACGTCTAGC -3'
Sequencing Primer
(F):5'- AGGCTACGGTGCTCCAGAG -3'
(R):5'- AAGAGCACGTCTAGCGCCAG -3'
|
Posted On |
2015-02-05 |