Incidental Mutation 'R2329:Adora2a'
| ID |
245805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adora2a
|
| Ensembl Gene |
ENSMUSG00000020178 |
| Gene Name |
adenosine A2a receptor |
| Synonyms |
A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A |
| MMRRC Submission |
040320-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
75152711-75170618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75162017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 52
(V52E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105420]
[ENSMUST00000217703]
[ENSMUST00000219044]
[ENSMUST00000219322]
|
| AlphaFold |
Q60613 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105420
AA Change: V52E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: V52E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
11 |
301 |
1.9e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
14 |
298 |
5.1e-15 |
PFAM |
|
Pfam:7tm_1
|
20 |
283 |
3.1e-62 |
PFAM |
|
low complexity region
|
355 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217703
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219044
AA Change: V52E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219322
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable and fertile with reduced exploratory activity and displaying depressive rather than stimulatory response to caffeine. Mutants test more anxious, were more aggressive towards intruders, and slower to respond to pain stimuli. Blood pressure and heart rate are increased, as well as platelet aggregation rate. [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 |
|---|
| 2210408I21Rik |
A |
C |
13: 77,451,444 (GRCm39) |
S843R |
probably benign |
Het |
| Adamts15 |
G |
T |
9: 30,813,781 (GRCm39) |
R795S |
probably damaging |
Het |
| Amph |
T |
A |
13: 19,323,520 (GRCm39) |
L594Q |
probably benign |
Het |
| Batf3 |
A |
T |
1: 190,840,646 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
C |
T |
5: 21,513,610 (GRCm39) |
|
probably null |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,862 (GRCm39) |
T123A |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,834 (GRCm39) |
T1190A |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,044 (GRCm39) |
Q298K |
possibly damaging |
Het |
| Dpp6 |
T |
C |
5: 27,656,286 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
C |
T |
15: 83,834,249 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,710 (GRCm39) |
M610I |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,356,933 (GRCm39) |
D38G |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,041,110 (GRCm39) |
T128A |
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,558,301 (GRCm39) |
V340M |
probably damaging |
Het |
| Gm19684 |
T |
A |
17: 36,439,345 (GRCm39) |
|
probably benign |
Het |
| Gstk1 |
T |
A |
6: 42,223,848 (GRCm39) |
D86E |
possibly damaging |
Het |
| Hus1 |
A |
G |
11: 8,957,492 (GRCm39) |
|
probably null |
Het |
| Kbtbd8 |
T |
C |
6: 95,103,761 (GRCm39) |
I547T |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,022,845 (GRCm39) |
H373L |
possibly damaging |
Het |
| Nostrin |
A |
T |
2: 68,991,438 (GRCm39) |
T144S |
probably damaging |
Het |
| Prl8a6 |
T |
C |
13: 27,621,050 (GRCm39) |
H60R |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,038,983 (GRCm39) |
I329T |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,492 (GRCm39) |
Y107* |
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc34a3 |
T |
C |
2: 25,119,422 (GRCm39) |
T483A |
possibly damaging |
Het |
| Slc35c1 |
A |
T |
2: 92,289,040 (GRCm39) |
Y155* |
probably null |
Het |
| Susd1 |
T |
C |
4: 59,379,715 (GRCm39) |
D304G |
possibly damaging |
Het |
| Taf5 |
C |
T |
19: 47,063,563 (GRCm39) |
S371L |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,545,069 (GRCm39) |
T2362A |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,599,786 (GRCm39) |
P19102S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,608,412 (GRCm39) |
V17837A |
probably damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Ulk4 |
C |
T |
9: 121,101,953 (GRCm39) |
E42K |
probably damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,387 (GRCm39) |
L44F |
probably damaging |
Het |
| Zfp932 |
A |
T |
5: 110,157,406 (GRCm39) |
H368L |
probably benign |
Het |
|
| Other mutations in Adora2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Adora2a
|
APN |
10 |
75,169,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01298:Adora2a
|
APN |
10 |
75,169,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1217:Adora2a
|
UTSW |
10 |
75,169,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Adora2a
|
UTSW |
10 |
75,169,480 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4808:Adora2a
|
UTSW |
10 |
75,169,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Adora2a
|
UTSW |
10 |
75,161,879 (GRCm39) |
missense |
probably null |
0.99 |
|
R5056:Adora2a
|
UTSW |
10 |
75,161,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Adora2a
|
UTSW |
10 |
75,161,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Adora2a
|
UTSW |
10 |
75,161,981 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6306:Adora2a
|
UTSW |
10 |
75,169,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Adora2a
|
UTSW |
10 |
75,169,442 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7047:Adora2a
|
UTSW |
10 |
75,162,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Adora2a
|
UTSW |
10 |
75,169,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7792:Adora2a
|
UTSW |
10 |
75,169,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Adora2a
|
UTSW |
10 |
75,162,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Adora2a
|
UTSW |
10 |
75,169,559 (GRCm39) |
nonsense |
probably null |
|
|
RF004:Adora2a
|
UTSW |
10 |
75,168,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Adora2a
|
UTSW |
10 |
75,169,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Adora2a
|
UTSW |
10 |
75,169,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTGTGAGGAAAGGGCTG -3'
(R):5'- CCTTATGCACAGATGTAACCCC -3'
Sequencing Primer
(F):5'- CAGCTATGGACCGAGAGCTG -3'
(R):5'- GATGTAACCCCTGGCTCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation