Incidental Mutation 'IGL01819:Adora2b'
| ID |
154481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adora2b
|
| Ensembl Gene |
ENSMUSG00000018500 |
| Gene Name |
adenosine A2b receptor |
| Synonyms |
A2b, A2BAR, A2BR, AA2BR, A2b, Rs, ARA2B |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01819
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
62139810-62157278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62156010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 153
(N153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018644]
[ENSMUST00000072916]
|
| AlphaFold |
Q60614 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018644
AA Change: N153S
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000018644
Gene: ENSMUSG00000018500
AA Change: N153S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
15 |
308 |
1.1e-11 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
18 |
305 |
1.4e-13 |
PFAM |
|
Pfam:7tm_1
|
24 |
290 |
3.8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072916
|
| SMART Domains |
Protein: ENSMUSP00000072688
Gene: ENSMUSG00000014243
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIM
|
66 |
114 |
1.7e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in low-grade inflammation, augmentation of proinflammatory cytokines and increased leukocyte adhesion to the vasculature. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
C |
T |
5: 90,672,765 (GRCm39) |
T200I |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,604,165 (GRCm39) |
D397G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,998,952 (GRCm39) |
V1032A |
probably benign |
Het |
| Elovl7 |
T |
G |
13: 108,410,854 (GRCm39) |
V143G |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 84,934,734 (GRCm39) |
K16E |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 38,924,161 (GRCm39) |
C383Y |
probably benign |
Het |
| Gucy1a2 |
C |
T |
9: 3,865,409 (GRCm39) |
R628* |
probably null |
Het |
| Hectd4 |
A |
G |
5: 121,466,481 (GRCm39) |
D2432G |
possibly damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,393,189 (GRCm39) |
*149R |
probably null |
Het |
| Kcnab1 |
T |
A |
3: 65,226,875 (GRCm39) |
Y185N |
probably damaging |
Het |
| Lars1 |
G |
T |
18: 42,335,615 (GRCm39) |
T1167K |
probably benign |
Het |
| Mib2 |
A |
T |
4: 155,739,715 (GRCm39) |
|
probably null |
Het |
| Mrps2 |
T |
C |
2: 28,358,348 (GRCm39) |
V46A |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,025,916 (GRCm39) |
T45A |
unknown |
Het |
| Myo1e |
C |
T |
9: 70,250,322 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,405,823 (GRCm39) |
I132V |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,078 (GRCm39) |
V106E |
probably damaging |
Het |
| Osbp2 |
A |
T |
11: 3,667,127 (GRCm39) |
I8N |
probably damaging |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,974 (GRCm39) |
N481Y |
probably damaging |
Het |
| Pde3a |
T |
C |
6: 141,433,263 (GRCm39) |
W765R |
probably damaging |
Het |
| Phf11c |
T |
C |
14: 59,630,586 (GRCm39) |
T40A |
probably benign |
Het |
| Pih1d2 |
T |
A |
9: 50,533,177 (GRCm39) |
S268R |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,724,913 (GRCm39) |
N2333D |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,463,165 (GRCm39) |
I62T |
probably damaging |
Het |
| Ptcd2 |
T |
C |
13: 99,463,219 (GRCm39) |
N245S |
possibly damaging |
Het |
| Ripor3 |
C |
A |
2: 167,822,763 (GRCm39) |
V933F |
probably damaging |
Het |
| Sanbr |
A |
G |
11: 23,534,561 (GRCm39) |
S105P |
probably benign |
Het |
| Sphk2 |
A |
G |
7: 45,360,480 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
T |
G |
15: 100,402,320 (GRCm39) |
E492D |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,629,106 (GRCm39) |
V14411I |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,628,549 (GRCm39) |
Q915R |
probably damaging |
Het |
| Vmn2r45 |
C |
A |
7: 8,488,556 (GRCm39) |
S158I |
probably benign |
Het |
|
| Other mutations in Adora2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02721:Adora2b
|
APN |
11 |
62,155,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Adora2b
|
APN |
11 |
62,156,309 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0684:Adora2b
|
UTSW |
11 |
62,139,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1491:Adora2b
|
UTSW |
11 |
62,156,363 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4632:Adora2b
|
UTSW |
11 |
62,156,208 (GRCm39) |
frame shift |
probably null |
|
|
R5681:Adora2b
|
UTSW |
11 |
62,140,067 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7514:Adora2b
|
UTSW |
11 |
62,156,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Adora2b
|
UTSW |
11 |
62,156,165 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8403:Adora2b
|
UTSW |
11 |
62,140,141 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8963:Adora2b
|
UTSW |
11 |
62,139,983 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9135:Adora2b
|
UTSW |
11 |
62,155,886 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9580:Adora2b
|
UTSW |
11 |
62,156,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adora2b
|
UTSW |
11 |
62,140,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation