Incidental Mutation 'IGL00885:Adora2a'
ID 28290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adora2a
Ensembl Gene ENSMUSG00000020178
Gene Name adenosine A2a receptor
Synonyms A2AAR, AA2AR, A2aR, A2a, Rs
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00885
Quality Score
Status
Chromosome 10
Chromosomal Location 75316877-75334784 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 75333451 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 250 (F250V)
Ref Sequence ENSEMBL: ENSMUSP00000101060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105420]
AlphaFold Q60613
Predicted Effect probably damaging
Transcript: ENSMUST00000105420
AA Change: F250V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: F250V

DomainStartEndE-ValueType
Pfam:7tm_4 11 301 1.9e-9 PFAM
Pfam:7TM_GPCR_Srsx 14 298 5.1e-15 PFAM
Pfam:7tm_1 20 283 3.1e-62 PFAM
low complexity region 355 371 N/A INTRINSIC
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 a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are viable and fertile with reduced exploratory activity and displaying depressive rather than stimulatory response to caffeine. Mutants test more anxious, were more aggressive towards intruders, and slower to respond to pain stimuli. Blood pressure and heart rate are increased, as well as platelet aggregation rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,714,315 probably benign Het
Atp8b5 T C 4: 43,355,567 S516P probably damaging Het
Btbd16 A G 7: 130,788,822 I150V probably damaging Het
Capn13 A T 17: 73,339,425 I331N possibly damaging Het
Capzb A G 4: 139,287,050 S233G probably benign Het
Clasp2 A G 9: 113,911,416 R1171G probably damaging Het
Col16a1 T G 4: 130,096,910 I1419S probably damaging Het
Coro7 T A 16: 4,635,026 Y286F probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Cyp11b2 T C 15: 74,853,515 T252A probably benign Het
Daam1 T A 12: 71,944,091 C160S unknown Het
Ephx4 T C 5: 107,406,125 probably benign Het
Fbxo47 A T 11: 97,878,120 D63E probably benign Het
Fgf3 A T 7: 144,840,784 probably benign Het
Fstl4 C T 11: 53,148,982 T331I possibly damaging Het
Gm597 T C 1: 28,776,845 E702G unknown Het
Gpr158 T C 2: 21,649,021 F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 V106I probably damaging Het
Ikzf2 T C 1: 69,539,322 T271A possibly damaging Het
Kat14 T A 2: 144,394,255 N302K probably benign Het
Kmt2c G T 5: 25,409,171 Q184K possibly damaging Het
Moxd2 A G 6: 40,884,179 probably benign Het
Nbeal2 C A 9: 110,638,661 E479D probably damaging Het
Neo1 A G 9: 58,888,463 L1231P probably damaging Het
Nfatc3 C T 8: 106,099,177 P620L probably damaging Het
Nol9 T C 4: 152,041,600 F253L probably damaging Het
Nutm2 T A 13: 50,474,860 S653R probably benign Het
Olfr138 A C 17: 38,274,899 I43L probably benign Het
Olfr1504 A T 19: 13,888,168 M14K probably benign Het
Plcg1 A G 2: 160,758,083 D921G probably benign Het
Plpp4 A T 7: 129,321,533 I101F probably damaging Het
Psg17 A T 7: 18,820,166 L53Q probably damaging Het
Ptpn4 A T 1: 119,802,363 I20N possibly damaging Het
R3hdm1 A T 1: 128,236,438 I1030L probably damaging Het
Rpl7 A C 1: 16,102,583 S171A possibly damaging Het
Snx25 G A 8: 46,038,476 T859M probably damaging Het
Tmem94 A G 11: 115,795,328 M990V probably damaging Het
Tnnt2 A G 1: 135,846,764 probably benign Het
Ttn T C 2: 76,709,685 H34319R possibly damaging Het
Vmn1r72 A G 7: 11,670,497 V8A probably benign Het
Zbtb41 A G 1: 139,430,324 T457A probably benign Het
Other mutations in Adora2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01298:Adora2a APN 10 75333492 missense probably damaging 1.00
R1217:Adora2a UTSW 10 75333215 missense probably damaging 1.00
R1983:Adora2a UTSW 10 75333646 missense probably benign 0.04
R2329:Adora2a UTSW 10 75326183 missense probably damaging 1.00
R4808:Adora2a UTSW 10 75333446 missense probably damaging 1.00
R4884:Adora2a UTSW 10 75326045 missense probably null 0.99
R5056:Adora2a UTSW 10 75326158 missense probably damaging 1.00
R5250:Adora2a UTSW 10 75326048 missense probably damaging 1.00
R6153:Adora2a UTSW 10 75326147 missense possibly damaging 0.78
R6306:Adora2a UTSW 10 75333404 missense probably damaging 1.00
R6746:Adora2a UTSW 10 75333608 missense probably benign 0.12
R7047:Adora2a UTSW 10 75326311 missense probably damaging 1.00
R7493:Adora2a UTSW 10 75333589 missense possibly damaging 0.92
R7792:Adora2a UTSW 10 75333646 missense probably benign 0.00
R8824:Adora2a UTSW 10 75326179 missense probably damaging 1.00
R8941:Adora2a UTSW 10 75333725 nonsense probably null
RF004:Adora2a UTSW 10 75333154 missense probably benign 0.00
X0017:Adora2a UTSW 10 75333563 missense probably damaging 1.00
Z1176:Adora2a UTSW 10 75333328 missense probably benign 0.00
Posted On 2013-04-17