Incidental Mutation 'R9580:Adora2b'
| ID |
722504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adora2b
|
| Ensembl Gene |
ENSMUSG00000018500 |
| Gene Name |
adenosine A2b receptor |
| Synonyms |
A2b, A2BAR, A2BR, AA2BR, A2b, Rs, ARA2B |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62139810-62157278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62156145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 198
(M198T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018644]
[ENSMUST00000072916]
|
| AlphaFold |
Q60614 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018644
AA Change: M198T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018644
Gene: ENSMUSG00000018500
AA Change: M198T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl2 |
A |
G |
2: 90,636,248 (GRCm39) |
T595A |
probably benign |
Het |
| Cep89 |
A |
T |
7: 35,102,538 (GRCm39) |
I84F |
possibly damaging |
Het |
| Eda |
G |
T |
X: 99,019,775 (GRCm39) |
R130L |
unknown |
Het |
| Erp44 |
T |
A |
4: 48,218,187 (GRCm39) |
R161* |
probably null |
Het |
| Fcsk |
A |
G |
8: 111,616,813 (GRCm39) |
W446R |
probably damaging |
Het |
| Gm12185 |
T |
G |
11: 48,799,192 (GRCm39) |
S434R |
possibly damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,294,875 (GRCm39) |
A2555S |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ighv1-61 |
A |
G |
12: 115,322,993 (GRCm39) |
S40P |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,643 (GRCm39) |
Q240* |
probably null |
Het |
| Mapkap1 |
C |
T |
2: 34,509,878 (GRCm39) |
T456M |
probably damaging |
Het |
| Ncapg2 |
A |
G |
12: 116,424,228 (GRCm39) |
N1137S |
probably damaging |
Het |
| Nectin4 |
C |
G |
1: 171,211,324 (GRCm39) |
R283G |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,828,457 (GRCm39) |
I259V |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c119 |
T |
C |
2: 88,987,465 (GRCm39) |
N18S |
probably benign |
Het |
| Pgm2 |
A |
T |
5: 64,265,092 (GRCm39) |
N371I |
possibly damaging |
Het |
| Ppargc1a |
A |
T |
5: 51,620,139 (GRCm39) |
N733K |
unknown |
Het |
| Ptpn5 |
A |
G |
7: 46,732,622 (GRCm39) |
Y345H |
probably damaging |
Het |
| Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
| Rbm47 |
A |
C |
5: 66,183,877 (GRCm39) |
M242R |
possibly damaging |
Het |
| Slc12a5 |
T |
G |
2: 164,816,896 (GRCm39) |
F140V |
probably damaging |
Het |
| Slc22a2 |
G |
T |
17: 12,803,177 (GRCm39) |
V4L |
probably benign |
Het |
| Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
T |
6: 131,663,699 (GRCm39) |
I243K |
probably damaging |
Het |
| Tmem126b |
G |
T |
7: 90,118,231 (GRCm39) |
Y216* |
probably null |
Het |
| Usp25 |
C |
T |
16: 76,880,682 (GRCm39) |
T681I |
probably benign |
Het |
| Vmn1r206 |
C |
T |
13: 22,804,890 (GRCm39) |
A106T |
probably damaging |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,915 (GRCm39) |
N134K |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,812 (GRCm39) |
S296P |
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,243 (GRCm39) |
F247L |
probably damaging |
Het |
|
| Other mutations in Adora2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01819:Adora2b
|
APN |
11 |
62,156,010 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
|
Z1177:Adora2b
|
UTSW |
11 |
62,140,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGGGATCATTGCTGTCC -3'
(R):5'- ACAGTTGATGGCATGCACTG -3'
Sequencing Primer
(F):5'- CTTTGGCATTGGATTGACTCC -3'
(R):5'- ATGCACTGGGAGCCAAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation