Incidental Mutation 'R6432:Adora3'
| ID |
518583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adora3
|
| Ensembl Gene |
ENSMUSG00000000562 |
| Gene Name |
adenosine A3 receptor |
| Synonyms |
A3R, 1700001D09Rik, 4930578J19Rik, AA3R, ARA3, A3AR, Gpcr 2 |
| MMRRC Submission |
044570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6432 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
105811737-105816244 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 105814991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 101
(L101*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000574]
[ENSMUST00000010279]
[ENSMUST00000164730]
[ENSMUST00000196748]
[ENSMUST00000200482]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000574
AA Change: L247*
|
| SMART Domains |
Protein: ENSMUSP00000000574
Gene: ENSMUSG00000000562
AA Change: L247*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
21 |
301 |
3.5e-12 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
24 |
298 |
5e-12 |
PFAM |
|
Pfam:7tm_1
|
30 |
283 |
2.8e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010279
|
| SMART Domains |
Protein: ENSMUSP00000010279
Gene: ENSMUSG00000074344
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
IG
|
20 |
115 |
3.94e0 |
SMART |
|
transmembrane domain
|
151 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000164730
AA Change: L101*
|
| SMART Domains |
Protein: ENSMUSP00000126710
Gene: ENSMUSG00000000562
AA Change: L101*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
1 |
137 |
6.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196748
|
| SMART Domains |
Protein: ENSMUSP00000143674
Gene: ENSMUSG00000074344
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
21 |
131 |
7.3e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
24 |
123 |
1.3e-7 |
PFAM |
|
Pfam:7tm_1
|
30 |
129 |
2.9e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200482
|
| SMART Domains |
Protein: ENSMUSP00000142695
Gene: ENSMUSG00000074344
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
IG
|
20 |
115 |
1.6e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. This gene shares its 3' terminal exon with a transcript variant from overlapping GeneID:69296, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are phenotypically indistinguishable from wild-type mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7ip2 |
T |
C |
16: 10,022,534 (GRCm39) |
I71T |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,322,512 (GRCm39) |
C206R |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,411 (GRCm39) |
L606P |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,639 (GRCm39) |
F574L |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,846,601 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,668,847 (GRCm39) |
E126* |
probably null |
Het |
| Cxadr |
A |
C |
16: 78,122,147 (GRCm39) |
D49A |
probably damaging |
Het |
| Dact1 |
T |
C |
12: 71,365,327 (GRCm39) |
S703P |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,178,425 (GRCm39) |
H1159Q |
possibly damaging |
Het |
| Dnmt3a |
T |
A |
12: 3,952,399 (GRCm39) |
F697I |
probably damaging |
Het |
| Dnpep |
T |
A |
1: 75,292,022 (GRCm39) |
K199N |
probably benign |
Het |
| Ear2 |
G |
T |
14: 44,340,660 (GRCm39) |
C106F |
probably damaging |
Het |
| Gnl2 |
A |
T |
4: 124,946,353 (GRCm39) |
I525F |
possibly damaging |
Het |
| Hsph1 |
C |
A |
5: 149,542,441 (GRCm39) |
K692N |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,116 (GRCm39) |
C489S |
possibly damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,254 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ly6m |
T |
C |
15: 74,751,813 (GRCm39) |
T74A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,185 (GRCm39) |
S22G |
possibly damaging |
Het |
| Ms4a12 |
A |
G |
19: 11,192,376 (GRCm39) |
*264Q |
probably null |
Het |
| Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,955,805 (GRCm39) |
N131K |
probably damaging |
Het |
| Or10g6 |
T |
C |
9: 39,933,824 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w13 |
A |
T |
2: 87,523,872 (GRCm39) |
M118K |
probably damaging |
Het |
| Rbm14 |
G |
T |
19: 4,853,191 (GRCm39) |
|
probably benign |
Het |
| Rnf130 |
T |
A |
11: 49,986,617 (GRCm39) |
C320* |
probably null |
Het |
| Rnf5 |
A |
G |
17: 34,821,101 (GRCm39) |
V77A |
possibly damaging |
Het |
| Sh3pxd2a |
G |
T |
19: 47,258,366 (GRCm39) |
P418T |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,387,616 (GRCm39) |
V262F |
possibly damaging |
Het |
| Six5 |
T |
A |
7: 18,830,696 (GRCm39) |
V441E |
probably damaging |
Het |
| Tbc1d9b |
T |
A |
11: 50,037,155 (GRCm39) |
I268N |
probably benign |
Het |
| Terb1 |
G |
A |
8: 105,212,078 (GRCm39) |
T301I |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,936,891 (GRCm39) |
D2820A |
probably damaging |
Het |
| Tram2 |
C |
T |
1: 21,074,457 (GRCm39) |
E242K |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,793 (GRCm39) |
K210E |
probably damaging |
Het |
| Tulp2 |
T |
A |
7: 45,168,012 (GRCm39) |
D141E |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,205,121 (GRCm39) |
T572I |
probably benign |
Het |
| Upf2 |
C |
A |
2: 5,984,588 (GRCm39) |
A501E |
unknown |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,483 (GRCm39) |
T537A |
possibly damaging |
Het |
| Wdr11 |
T |
A |
7: 129,208,242 (GRCm39) |
D332E |
possibly damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,723 (GRCm39) |
N199S |
probably damaging |
Het |
| Zfp672 |
T |
A |
11: 58,207,758 (GRCm39) |
I188F |
possibly damaging |
Het |
|
| Other mutations in Adora3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02565:Adora3
|
APN |
3 |
105,815,128 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03210:Adora3
|
APN |
3 |
105,815,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1885:Adora3
|
UTSW |
3 |
105,812,152 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1886:Adora3
|
UTSW |
3 |
105,812,152 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1887:Adora3
|
UTSW |
3 |
105,812,152 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3434:Adora3
|
UTSW |
3 |
105,812,231 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4864:Adora3
|
UTSW |
3 |
105,815,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Adora3
|
UTSW |
3 |
105,814,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5746:Adora3
|
UTSW |
3 |
105,815,126 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6322:Adora3
|
UTSW |
3 |
105,814,760 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7264:Adora3
|
UTSW |
3 |
105,812,141 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7772:Adora3
|
UTSW |
3 |
105,815,039 (GRCm39) |
missense |
probably benign |
|
|
R9020:Adora3
|
UTSW |
3 |
105,815,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Adora3
|
UTSW |
3 |
105,814,613 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Adora3
|
UTSW |
3 |
105,815,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTACATGGTCTTCTTCAGCTTC -3'
(R):5'- ATCTGAGGTCTGACAGAGCC -3'
Sequencing Primer
(F):5'- AGCTTCGTCACCTGGATCC -3'
(R):5'- TCTGACAGAGCCTGAGAGCTC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation