Incidental Mutation 'R2175:Adra2a'
| ID |
236848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adra2a
|
| Ensembl Gene |
ENSMUSG00000033717 |
| Gene Name |
adrenergic receptor, alpha 2a |
| Synonyms |
alpha2A-adrenergic receptor, Adra-2, alpha2A-AR, alpha(2A)AR, alpha2A, Adra-2a |
| MMRRC Submission |
040177-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
54033690-54037413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54034793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 50
(T50A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036700]
|
| AlphaFold |
Q01338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036700
AA Change: T50A
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000036203
Gene: ENSMUSG00000033717
AA Change: T50A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
55 |
237 |
1.5e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
56 |
188 |
2.5e-6 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
59 |
245 |
3.7e-7 |
PFAM |
|
Pfam:7tm_1
|
65 |
441 |
1.5e-73 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. Studies in mouse revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons; the alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes alpha2A subtype and it contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene fail to produce hypotensive responsiveness to alpha2AR agonists, including failure to inhibit voltage-gated Ca2+ currents and spontaneous neuronal firing. [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 |
|---|
| Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
| Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
| Evi5l |
A |
G |
8: 4,237,269 (GRCm39) |
H124R |
probably damaging |
Het |
| Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,614,426 (GRCm39) |
R21G |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,940,375 (GRCm39) |
M392K |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,300,310 (GRCm39) |
T34A |
possibly damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
| Or5an1b |
T |
A |
19: 12,299,885 (GRCm39) |
Y102F |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
| Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
| Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
| Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
| Strap |
A |
G |
6: 137,727,590 (GRCm39) |
T345A |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
| Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
| Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
Het |
|
| Other mutations in Adra2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
splenda
|
UTSW |
19 |
54,034,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
splenda2
|
UTSW |
19 |
54,035,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0245:Adra2a
|
UTSW |
19 |
54,035,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Adra2a
|
UTSW |
19 |
54,034,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4553:Adra2a
|
UTSW |
19 |
54,035,166 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4781:Adra2a
|
UTSW |
19 |
54,034,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4984:Adra2a
|
UTSW |
19 |
54,035,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5260:Adra2a
|
UTSW |
19 |
54,035,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Adra2a
|
UTSW |
19 |
54,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5585:Adra2a
|
UTSW |
19 |
54,034,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6861:Adra2a
|
UTSW |
19 |
54,034,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Adra2a
|
UTSW |
19 |
54,034,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Adra2a
|
UTSW |
19 |
54,035,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Adra2a
|
UTSW |
19 |
54,034,659 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8997:Adra2a
|
UTSW |
19 |
54,035,729 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9486:Adra2a
|
UTSW |
19 |
54,035,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Adra2a
|
UTSW |
19 |
54,035,454 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTCCTTATGTGAGGCGC -3'
(R):5'- CTCGTTGGCCAAAGAAAAGG -3'
Sequencing Primer
(F):5'- AGGAGGACCCACGGACG -3'
(R):5'- GGAATGACCAGCGTGGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation