Incidental Mutation 'R4808:Adora2a'
ID 370840
Institutional Source Beutler Lab
Gene Symbol Adora2a
Ensembl Gene ENSMUSG00000020178
Gene Name adenosine A2a receptor
Synonyms A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A
MMRRC Submission 042427-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4808 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75152711-75170618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75169280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 248 (N248S)
Ref Sequence ENSEMBL: ENSMUSP00000101060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105420]
AlphaFold Q60613
Predicted Effect probably damaging
Transcript: ENSMUST00000105420
AA Change: N248S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: N248S

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
Meta Mutation Damage Score 0.6395 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (71/72)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abi3bp A G 16: 56,414,879 (GRCm39) D347G probably damaging Het
Agap3 T C 5: 24,706,243 (GRCm39) F836L probably benign Het
Arap2 G A 5: 62,887,984 (GRCm39) T454M probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atm A G 9: 53,356,795 (GRCm39) S2819P probably damaging Het
Atp8b1 A G 18: 64,694,782 (GRCm39) F500S probably benign Het
Catsper1 G A 19: 5,394,164 (GRCm39) D682N possibly damaging Het
Chordc1 A G 9: 18,203,709 (GRCm39) Y6C probably damaging Het
Cped1 A G 6: 22,088,756 (GRCm39) K273R probably damaging Het
Crat T C 2: 30,300,033 (GRCm39) I116V probably benign Het
Cyp26a1 A G 19: 37,689,573 (GRCm39) H423R probably benign Het
Cyp4f40 A G 17: 32,893,249 (GRCm39) E360G probably benign Het
D430041D05Rik A C 2: 104,031,455 (GRCm39) probably null Het
Eif3i A T 4: 129,485,857 (GRCm39) F323I probably benign Het
Fam53a A G 5: 33,765,023 (GRCm39) S228P probably damaging Het
Gm10305 C T 4: 99,161,481 (GRCm39) noncoding transcript Het
Gm7347 C T 5: 26,259,995 (GRCm39) R185H probably benign Het
Golga2 G T 2: 32,193,226 (GRCm39) A441S probably benign Het
Gphn T A 12: 78,701,654 (GRCm39) S608T probably benign Het
Gramd1b A T 9: 40,215,645 (GRCm39) V620E possibly damaging Het
H2bc18 T G 3: 96,177,329 (GRCm39) S88A probably benign Het
H2-M9 T C 17: 36,951,684 (GRCm39) T264A probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Hsd3b6 G A 3: 98,713,601 (GRCm39) H233Y probably damaging Het
Ighv6-7 T A 12: 114,419,341 (GRCm39) R88* probably null Het
Jup C T 11: 100,269,018 (GRCm39) R465H probably damaging Het
Kif16b A T 2: 142,699,278 (GRCm39) Y101N probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Myocos T C 1: 162,484,609 (GRCm39) probably benign Het
Nav1 C T 1: 135,382,942 (GRCm39) G1197S probably damaging Het
Oas1g T G 5: 121,017,385 (GRCm39) K223T possibly damaging Het
Oprd1 G A 4: 131,844,705 (GRCm39) T101M probably damaging Het
Or14c40 A G 7: 86,313,146 (GRCm39) D92G probably benign Het
Or51g2 T C 7: 102,623,118 (GRCm39) H27R probably damaging Het
Pcdha7 G A 18: 37,107,281 (GRCm39) C102Y probably damaging Het
Pcx T A 19: 4,670,956 (GRCm39) S1086T probably benign Het
Pde8a A G 7: 80,932,679 (GRCm39) T114A probably benign Het
Pias4 A G 10: 80,991,674 (GRCm39) probably null Het
Pkn3 G A 2: 29,980,093 (GRCm39) G750E probably damaging Het
Pramel5 G A 4: 143,999,325 (GRCm39) A254V probably benign Het
Ptprq A G 10: 107,554,368 (GRCm39) L119P probably damaging Het
Rasgrf2 A T 13: 92,160,190 (GRCm39) L395Q probably damaging Het
Rbm19 T C 5: 120,256,839 (GRCm39) S51P probably damaging Het
Rfx5 A G 3: 94,865,591 (GRCm39) T297A probably benign Het
Scaf1 T C 7: 44,658,063 (GRCm39) E272G probably damaging Het
Slc24a2 G T 4: 86,950,475 (GRCm39) Q396K probably benign Het
Slc39a14 T C 14: 70,553,250 (GRCm39) I162V probably damaging Het
Snap25 A G 2: 136,612,022 (GRCm39) D70G probably damaging Het
Spata31d1b C T 13: 59,863,535 (GRCm39) P228S probably benign Het
Sppl3 T A 5: 115,221,485 (GRCm39) probably benign Het
Sspo A G 6: 48,428,095 (GRCm39) D314G probably damaging Het
Steap1 G T 5: 5,788,829 (GRCm39) probably benign Het
Suox T A 10: 128,507,758 (GRCm39) D90V possibly damaging Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tektl1 A T 10: 78,588,698 (GRCm39) D37E probably benign Het
Tln2 G T 9: 67,239,015 (GRCm39) T1087K probably benign Het
Uap1l1 A G 2: 25,252,097 (GRCm39) S473P probably damaging Het
Xpo5 T A 17: 46,546,896 (GRCm39) N882K probably benign Het
Zfp536 A T 7: 37,178,730 (GRCm39) C228S probably damaging Het
Other mutations in Adora2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Adora2a APN 10 75,169,285 (GRCm39) missense probably damaging 0.99
IGL01298:Adora2a APN 10 75,169,326 (GRCm39) missense probably damaging 1.00
R1217:Adora2a UTSW 10 75,169,049 (GRCm39) missense probably damaging 1.00
R1983:Adora2a UTSW 10 75,169,480 (GRCm39) missense probably benign 0.04
R2329:Adora2a UTSW 10 75,162,017 (GRCm39) missense probably damaging 1.00
R4884:Adora2a UTSW 10 75,161,879 (GRCm39) missense probably null 0.99
R5056:Adora2a UTSW 10 75,161,992 (GRCm39) missense probably damaging 1.00
R5250:Adora2a UTSW 10 75,161,882 (GRCm39) missense probably damaging 1.00
R6153:Adora2a UTSW 10 75,161,981 (GRCm39) missense possibly damaging 0.78
R6306:Adora2a UTSW 10 75,169,238 (GRCm39) missense probably damaging 1.00
R6746:Adora2a UTSW 10 75,169,442 (GRCm39) missense probably benign 0.12
R7047:Adora2a UTSW 10 75,162,145 (GRCm39) missense probably damaging 1.00
R7493:Adora2a UTSW 10 75,169,423 (GRCm39) missense possibly damaging 0.92
R7792:Adora2a UTSW 10 75,169,480 (GRCm39) missense probably benign 0.00
R8824:Adora2a UTSW 10 75,162,013 (GRCm39) missense probably damaging 1.00
R8941:Adora2a UTSW 10 75,169,559 (GRCm39) nonsense probably null
RF004:Adora2a UTSW 10 75,168,988 (GRCm39) missense probably benign 0.00
X0017:Adora2a UTSW 10 75,169,397 (GRCm39) missense probably damaging 1.00
Z1176:Adora2a UTSW 10 75,169,162 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGCTGGCCATCTACCTAAGG -3'
(R):5'- TAAGAAGCTCTACATCCCCAGGAG -3'

Sequencing Primer
(F):5'- CACACTGCAGAAGGAAGT -3'
(R):5'- ATTGGCCCATACTCCCAGG -3'
Posted On 2016-02-04