Incidental Mutation 'IGL02721:Adora2b'
ID305000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adora2b
Ensembl Gene ENSMUSG00000018500
Gene Nameadenosine A2b receptor
SynonymsAA2BR, A2BR, A2BAR, A2b, A2b, Rs
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02721
Quality Score
Status
Chromosome11
Chromosomal Location62248984-62266453 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 62265105 bp
ZygosityHeterozygous
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]
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: 55,980,840 I398L probably benign Het
4931414P19Rik A G 14: 54,585,745 S332P probably damaging Het
Abca7 T C 10: 80,013,635 S1877P possibly damaging Het
Ahnak A G 19: 9,009,707 K2785R probably benign Het
Anapc2 G A 2: 25,274,668 W21* probably null Het
Atp7b A G 8: 22,022,477 S457P probably benign Het
Catsperb A G 12: 101,625,297 Q1046R probably null Het
Comp A T 8: 70,376,081 N188Y probably damaging Het
Crnkl1 A T 2: 145,923,881 I423K possibly damaging Het
Crtap A T 9: 114,381,639 V289E probably damaging Het
Ctnna2 T C 6: 76,981,869 N454S probably damaging Het
Dnah5 A T 15: 28,234,243 probably null Het
Dstyk T G 1: 132,449,316 V220G probably benign Het
E230025N22Rik C T 18: 36,695,611 V5M probably damaging Het
Fam111a T G 19: 12,586,972 N28K probably benign Het
Fbxo32 A G 15: 58,182,962 I284T possibly damaging Het
Fgb A C 3: 83,043,367 V360G possibly damaging Het
Gm3404 A T 5: 146,526,928 R128* probably null Het
Gm5152 T C 5: 10,243,916 K106E probably damaging Het
Hal G T 10: 93,507,498 G535* probably null Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Igsf5 T A 16: 96,391,022 S274T probably damaging Het
Kdm7a C T 6: 39,173,437 A134T possibly damaging Het
Klhl25 G T 7: 75,866,900 W518L probably damaging Het
Map1a A T 2: 121,304,037 D1778V probably benign Het
Nif3l1 A G 1: 58,457,849 D311G probably damaging Het
Numa1 A G 7: 101,999,911 T950A probably benign Het
Nup54 A T 5: 92,417,857 I406N possibly damaging Het
Olfr1389 T A 11: 49,430,641 L55* probably null Het
Olfr509 G T 7: 108,646,375 S67* probably null Het
Olfr800 C T 10: 129,659,955 P50S probably benign Het
Olfr801 A T 10: 129,670,123 I132N probably benign Het
Pcdhb18 T A 18: 37,490,031 M138K probably benign Het
Pik3c2g A G 6: 139,736,973 T27A probably benign Het
Plekhb2 A G 1: 34,869,364 N163S probably benign Het
Ros1 G A 10: 52,172,831 probably benign Het
Sh3gl1 A G 17: 56,017,577 L357P possibly damaging Het
Skint5 T A 4: 113,942,549 D141V probably damaging Het
Slc10a5 A G 3: 10,334,535 V355A probably benign Het
Ssh2 G T 11: 77,454,725 G1179* probably null Het
Syde2 A G 3: 146,002,004 N566S probably damaging Het
Sytl1 T C 4: 133,258,878 R149G probably benign Het
Tnpo2 A G 8: 85,054,690 probably null Het
Top2b T C 14: 16,409,236 L793P probably damaging Het
U2surp T A 9: 95,474,435 E789D probably benign Het
Vps13c G A 9: 67,964,149 probably benign Het
Zbtb34 C T 2: 33,411,258 G424R probably damaging Het
Zfhx4 A G 3: 5,243,307 D531G possibly damaging Het
Zfp787 C T 7: 6,132,464 probably null Het
Other mutations in Adora2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01819:Adora2b APN 11 62265184 missense possibly damaging 0.88
IGL02792:Adora2b APN 11 62265483 missense possibly damaging 0.94
R0684:Adora2b UTSW 11 62249169 missense probably benign 0.00
R1491:Adora2b UTSW 11 62265537 missense probably benign 0.04
R4632:Adora2b UTSW 11 62265382 frame shift probably null
R5681:Adora2b UTSW 11 62249241 missense probably damaging 0.97
R7514:Adora2b UTSW 11 62265320 missense probably damaging 1.00
R7733:Adora2b UTSW 11 62265339 missense possibly damaging 0.86
R8403:Adora2b UTSW 11 62249315 missense probably damaging 0.96
R8963:Adora2b UTSW 11 62249157 missense possibly damaging 0.81
Z1177:Adora2b UTSW 11 62249426 missense probably benign 0.00
Posted On2015-04-16