Incidental Mutation 'IGL02721:Adora2b'
ID 305000
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) question?
Stock # IGL02721
Quality Score
Status
Chromosome 11
Chromosomal Location 62139810-62157278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62155931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 127 (A127S)
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: A127S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018644
Gene: ENSMUSG00000018500
AA Change: A127S

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,888,124 (GRCm39) I398L probably benign Het
4931414P19Rik A G 14: 54,823,202 (GRCm39) S332P probably damaging Het
Abca7 T C 10: 79,849,469 (GRCm39) S1877P possibly damaging Het
Ahnak A G 19: 8,987,071 (GRCm39) K2785R probably benign Het
Anapc2 G A 2: 25,164,680 (GRCm39) W21* probably null Het
Atp7b A G 8: 22,512,493 (GRCm39) S457P probably benign Het
Catsperb A G 12: 101,591,556 (GRCm39) Q1046R probably null Het
Comp A T 8: 70,828,731 (GRCm39) N188Y probably damaging Het
Crnkl1 A T 2: 145,765,801 (GRCm39) I423K possibly damaging Het
Crtap A T 9: 114,210,707 (GRCm39) V289E probably damaging Het
Ctnna2 T C 6: 76,958,852 (GRCm39) N454S probably damaging Het
Dnah5 A T 15: 28,234,389 (GRCm39) probably null Het
Dstyk T G 1: 132,377,054 (GRCm39) V220G probably benign Het
E230025N22Rik C T 18: 36,828,664 (GRCm39) V5M probably damaging Het
Fam111a T G 19: 12,564,336 (GRCm39) N28K probably benign Het
Fbxo32 A G 15: 58,046,358 (GRCm39) I284T possibly damaging Het
Fgb A C 3: 82,950,674 (GRCm39) V360G possibly damaging Het
Gm3404 A T 5: 146,463,738 (GRCm39) R128* probably null Het
Hal G T 10: 93,343,360 (GRCm39) G535* probably null Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Igsf5 T A 16: 96,192,222 (GRCm39) S274T probably damaging Het
Kdm7a C T 6: 39,150,371 (GRCm39) A134T possibly damaging Het
Klhl25 G T 7: 75,516,648 (GRCm39) W518L probably damaging Het
Map1a A T 2: 121,134,518 (GRCm39) D1778V probably benign Het
Nif3l1 A G 1: 58,497,008 (GRCm39) D311G probably damaging Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup54 A T 5: 92,565,716 (GRCm39) I406N possibly damaging Het
Or10ab5 G T 7: 108,245,582 (GRCm39) S67* probably null Het
Or2y1d T A 11: 49,321,468 (GRCm39) L55* probably null Het
Or6c210 C T 10: 129,495,824 (GRCm39) P50S probably benign Het
Or6c211 A T 10: 129,505,992 (GRCm39) I132N probably benign Het
Pcdhb18 T A 18: 37,623,084 (GRCm39) M138K probably benign Het
Pik3c2g A G 6: 139,682,699 (GRCm39) T27A probably benign Het
Plekhb2 A G 1: 34,908,445 (GRCm39) N163S probably benign Het
Ros1 G A 10: 52,048,927 (GRCm39) probably benign Het
Sh3gl1 A G 17: 56,324,577 (GRCm39) L357P possibly damaging Het
Skint5 T A 4: 113,799,746 (GRCm39) D141V probably damaging Het
Slc10a5 A G 3: 10,399,595 (GRCm39) V355A probably benign Het
Speer1c T C 5: 10,293,883 (GRCm39) K106E probably damaging Het
Ssh2 G T 11: 77,345,551 (GRCm39) G1179* probably null Het
Syde2 A G 3: 145,707,759 (GRCm39) N566S probably damaging Het
Sytl1 T C 4: 132,986,189 (GRCm39) R149G probably benign Het
Tnpo2 A G 8: 85,781,319 (GRCm39) probably null Het
Top2b T C 14: 16,409,236 (GRCm38) L793P probably damaging Het
U2surp T A 9: 95,356,488 (GRCm39) E789D probably benign Het
Vps13c G A 9: 67,871,431 (GRCm39) probably benign Het
Zbtb34 C T 2: 33,301,270 (GRCm39) G424R probably damaging Het
Zfhx4 A G 3: 5,308,367 (GRCm39) D531G possibly damaging Het
Zfp787 C T 7: 6,135,463 (GRCm39) probably null Het
Other mutations in Adora2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Adora2b APN 11 62,156,010 (GRCm39) missense possibly damaging 0.88
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 2015-04-16