Incidental Mutation 'IGL01819:Adora2b'
ID154481
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 #IGL01819
Quality Score
Status
Chromosome11
Chromosomal Location62248984-62266453 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 62265184 bp
ZygosityHeterozygous
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]
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

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,584,561 S105P probably benign Het
Afm C T 5: 90,524,906 T200I probably benign Het
Cyp2c67 T C 19: 39,615,721 D397G probably damaging Het
Dnah9 A G 11: 66,108,126 V1032A probably benign Het
Elovl7 T G 13: 108,274,320 V143G probably damaging Het
Fhl4 T C 10: 85,098,870 K16E probably damaging Het
Golga1 C T 2: 39,034,149 C383Y probably benign Het
Gucy1a2 C T 9: 3,865,409 R628* probably null Het
Hectd4 A G 5: 121,328,418 D2432G possibly damaging Het
Iqcf5 T A 9: 106,515,990 *149R probably null Het
Kcnab1 T A 3: 65,319,454 Y185N probably damaging Het
Lars G T 18: 42,202,550 T1167K probably benign Het
Mib2 A T 4: 155,655,258 probably null Het
Mrps2 T C 2: 28,468,336 V46A probably benign Het
Myo18b T C 5: 112,878,050 T45A unknown Het
Myo1e C T 9: 70,343,040 probably benign Het
Olfr1129 A G 2: 87,575,479 I132V probably damaging Het
Olfr1285 T A 2: 111,408,733 V106E probably damaging Het
Osbp2 A T 11: 3,717,127 I8N probably damaging Het
Pcdhb22 A T 18: 37,519,921 N481Y probably damaging Het
Pde3a T C 6: 141,487,537 W765R probably damaging Het
Phf11c T C 14: 59,393,137 T40A probably benign Het
Pih1d2 T A 9: 50,621,877 S268R probably benign Het
Pkd1l2 T C 8: 116,998,174 N2333D probably damaging Het
Prex1 A G 2: 166,621,245 I62T probably damaging Het
Ptcd2 T C 13: 99,326,711 N245S possibly damaging Het
Ripor3 C A 2: 167,980,843 V933F probably damaging Het
Sphk2 A G 7: 45,711,056 probably null Het
Tfcp2 T G 15: 100,504,439 E492D probably benign Het
Ttn C T 2: 76,798,762 V14411I possibly damaging Het
Utp20 T C 10: 88,792,687 Q915R probably damaging Het
Vmn2r45 C A 7: 8,485,557 S158I probably benign Het
Other mutations in Adora2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02721:Adora2b APN 11 62265105 missense probably damaging 1.00
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
Z1177:Adora2b UTSW 11 62249426 missense probably benign 0.00
Posted On2014-02-04