Incidental Mutation 'RF004:Adora2a'
ID 602703
Institutional Source Beutler Lab
Gene Symbol Adora2a
Ensembl Gene ENSMUSG00000020178
Gene Name adenosine A2a receptor
Synonyms A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF004 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 75152711-75170618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75168988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 151 (T151S)
Ref Sequence ENSEMBL: ENSMUSP00000101060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105420]
AlphaFold Q60613
Predicted Effect probably benign
Transcript: ENSMUST00000105420
AA Change: T151S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: T151S

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
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.1%
  • 20x: 97.6%
Validation Efficiency 100% (34/34)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T A 19: 21,575,645 (GRCm39) H126L probably benign Het
4930407I10Rik A T 15: 81,943,550 (GRCm39) Q54L possibly damaging Het
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,963 (GRCm39) probably benign Het
Ankrd36 A G 11: 5,612,411 (GRCm39) K1248E possibly damaging Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Arl11 T C 14: 61,548,304 (GRCm39) V38A probably damaging Het
Atp2c2 A T 8: 120,479,561 (GRCm39) N726Y probably damaging Het
Bcat1 T C 6: 144,953,349 (GRCm39) K413R probably benign Het
Cd244a C G 1: 171,405,490 (GRCm39) Q292E probably benign Het
Chp1 T A 2: 119,411,195 (GRCm39) D123E probably damaging Het
Cpeb4 ACTCT ACTCTCT 11: 31,877,634 (GRCm39) probably benign Het
Ddx6 A G 9: 44,535,789 (GRCm39) T173A possibly damaging Het
Dlg2 T A 7: 90,501,885 (GRCm39) C66S probably benign Het
Dnah2 T A 11: 69,328,013 (GRCm39) Q3370L probably benign Het
Dnmt1 GCACAGTTCCTACCTCGTT GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT 9: 20,821,423 (GRCm39) probably null Het
Dop1a T C 9: 86,436,244 (GRCm39) V2420A probably benign Het
Gm8369 GTGTGT GTGTGTATGTGT 19: 11,489,118 (GRCm39) probably benign Het
Igkv6-25 TTGACGGA T 6: 70,192,647 (GRCm39) probably null Het
Iqgap1 G A 7: 80,370,623 (GRCm39) A1582V probably benign Het
Lmnb1 T C 18: 56,864,046 (GRCm39) I217T possibly damaging Het
Mamld1 CAG CAGTAG X: 70,162,437 (GRCm39) probably null Het
Map2k2 A T 10: 80,951,002 (GRCm39) H149L probably benign Het
Med12l CAG CAGAAG 3: 59,183,390 (GRCm39) probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nxph2 G A 2: 23,290,080 (GRCm39) R144Q probably damaging Het
Or2t48 CA C 11: 58,419,983 (GRCm39) probably null Het
Or51f1e T TTAG 7: 102,747,516 (GRCm39) probably null Het
Or51f1e GTTAT GTTATTAT 7: 102,747,512 (GRCm39) Het
Or51f1e AT ATTCT 7: 102,747,515 (GRCm39) probably benign Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or52n20 A G 7: 104,320,248 (GRCm39) E113G probably damaging Het
Or8d2 T C 9: 38,760,114 (GRCm39) F235L probably benign Het
Padi4 A T 4: 140,487,269 (GRCm39) V211E probably damaging Het
Prdm10 A C 9: 31,270,422 (GRCm39) D902A probably damaging Het
Prps1l1 A G 12: 35,035,398 (GRCm39) D171G probably damaging Het
Rasal3 A T 17: 32,610,081 (GRCm39) N1035K probably damaging Het
Rassf6 GGTCCTGTAGAGCAATGGGGATTC GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC 5: 90,756,778 (GRCm39) probably benign Het
Rbm26 A G 14: 105,388,931 (GRCm39) V320A probably damaging Het
S1pr1 A T 3: 115,506,536 (GRCm39) Y19* probably null Het
Slc22a16 A C 10: 40,479,642 (GRCm39) L571F possibly damaging Het
Smarca2 CAGC CAGCCCAAGC 19: 26,608,420 (GRCm39) probably benign Het
Ssx2ip A T 3: 146,132,195 (GRCm39) K219* probably null Het
Trav15-2-dv6-2 AAG AAGCAG 14: 53,887,212 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GAA GAATAA 14: 53,887,211 (GRCm39) probably null Het
Tsen15 A G 1: 152,259,470 (GRCm39) V63A probably damaging Het
Ttc21a A G 9: 119,795,838 (GRCm39) Y1224C probably damaging Het
Usp54 T A 14: 20,611,368 (GRCm39) E1149D possibly damaging Het
Vmn2r37 A T 7: 9,220,686 (GRCm39) S392R probably damaging Het
Wdr97 GAGGAGGA G 15: 76,247,373 (GRCm39) probably null Het
Zfp663 G T 2: 165,200,363 (GRCm39) H72Q probably benign Het
Zfp683 TGTGG TGTGGTGG 4: 133,786,185 (GRCm39) probably benign 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
R4808:Adora2a UTSW 10 75,169,280 (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
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'- GCTTCTTGGACCTCCTAGAC -3'
(R):5'- GACTTCCTTCTGCAGTGTGG -3'

Sequencing Primer
(F):5'- TAGACCCTGGTTCATCGGGTC -3'
(R):5'- AGGGGTTGGCTCTCCATC -3'
Posted On 2019-12-04