Incidental Mutation 'R5250:Adora2a'
ID 398957
Institutional Source Beutler Lab
Gene Symbol Adora2a
Ensembl Gene ENSMUSG00000020178
Gene Name adenosine A2a receptor
Synonyms A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A
MMRRC Submission 042821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5250 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 75152711-75170618 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75161882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 7 (I7T)
Ref Sequence ENSEMBL: ENSMUSP00000101060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105420] [ENSMUST00000217703] [ENSMUST00000219044] [ENSMUST00000219322]
AlphaFold Q60613
Predicted Effect probably damaging
Transcript: ENSMUST00000105420
AA Change: I7T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: I7T

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
Predicted Effect probably benign
Transcript: ENSMUST00000217703
Predicted Effect possibly damaging
Transcript: ENSMUST00000219044
AA Change: I7T

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000219322
AA Change: I7T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.5408 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,135,182 (GRCm39) K236* probably null Het
Adgre5 A G 8: 84,460,069 (GRCm39) V109A probably benign Het
Ankrd6 A G 4: 32,860,335 (GRCm39) V36A probably damaging Het
Arhgef2 T C 3: 88,540,955 (GRCm39) probably null Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg2b G A 12: 105,602,024 (GRCm39) R1651W probably damaging Het
Atp6v0a1 T A 11: 100,933,870 (GRCm39) V553D possibly damaging Het
Bard1 G A 1: 71,113,722 (GRCm39) L420F probably damaging Het
Bcat1 C G 6: 144,993,165 (GRCm39) probably null Het
Bpifb5 A T 2: 154,066,881 (GRCm39) N45Y probably benign Het
Btbd17 G T 11: 114,682,234 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Col11a1 A G 3: 114,010,819 (GRCm39) probably benign Het
Cspg4b A G 13: 113,456,305 (GRCm39) N784D possibly damaging Het
Dhx38 A T 8: 110,283,152 (GRCm39) V555D probably damaging Het
Dixdc1 T G 9: 50,595,035 (GRCm39) E230A possibly damaging Het
Dnah7b T G 1: 46,412,514 (GRCm39) V4041G probably damaging Het
Dnhd1 A T 7: 105,334,968 (GRCm39) I1021L probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Flt4 T A 11: 49,521,227 (GRCm39) I412N possibly damaging Het
Gabrb1 A G 5: 72,026,922 (GRCm39) I141V possibly damaging Het
Gpc2 A G 5: 138,277,230 (GRCm39) Y66H probably damaging Het
Hoxd3 C T 2: 74,574,650 (GRCm39) Q99* probably null Het
Inpp5d T C 1: 87,637,397 (GRCm39) V781A probably damaging Het
Larp4b T C 13: 9,221,013 (GRCm39) probably benign Het
Lrrfip1 T A 1: 91,043,618 (GRCm39) S674R possibly damaging Het
Megf6 A G 4: 154,340,467 (GRCm39) T561A possibly damaging Het
Mpo A T 11: 87,694,259 (GRCm39) Q83L probably benign Het
Mucl2 T C 15: 103,927,733 (GRCm39) N75D possibly damaging Het
Myh13 C T 11: 67,218,085 (GRCm39) Q53* probably null Het
Myot T A 18: 44,479,137 (GRCm39) D291E probably damaging Het
Nae1 A G 8: 105,257,023 (GRCm39) probably null Het
Ncoa2 A T 1: 13,294,913 (GRCm39) S2R probably damaging Het
Nktr T A 9: 121,578,858 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,842,869 (GRCm39) probably benign Het
Or10aa3 T G 1: 173,878,838 (GRCm39) F300V probably benign Het
Or14j4 A G 17: 37,920,851 (GRCm39) S264P probably damaging Het
Or5an1b T C 19: 12,299,430 (GRCm39) T254A probably benign Het
P2rx2 T C 5: 110,489,454 (GRCm39) E160G probably damaging Het
Pcdhga11 A T 18: 37,890,990 (GRCm39) D666V probably damaging Het
Pcm1 A T 8: 41,765,242 (GRCm39) E1484D probably damaging Het
Pdia4 C T 6: 47,773,619 (GRCm39) A577T possibly damaging Het
Potefam1 T G 2: 111,058,422 (GRCm39) T124P possibly damaging Het
Ppm1e T C 11: 87,121,744 (GRCm39) I738V probably benign Het
Ppp1r13b G T 12: 111,811,394 (GRCm39) R165S probably benign Het
Rasgrp2 T C 19: 6,454,343 (GRCm39) W129R probably damaging Het
Smurf2 A G 11: 106,747,005 (GRCm39) probably null Het
Spmap1 C A 11: 97,663,553 (GRCm39) W99L possibly damaging Het
Ubr2 G T 17: 47,241,368 (GRCm39) Q1729K probably benign Het
Zfp260 T A 7: 29,804,392 (GRCm39) H97Q probably damaging Het
Zfp429 G T 13: 67,538,638 (GRCm39) R269S probably benign Het
Zfp568 T C 7: 29,716,655 (GRCm39) V185A 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
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'- AAAGCCTTTGGGAAGCTCTC -3'
(R):5'- TGAAGATGGAACTCTGCGTG -3'

Sequencing Primer
(F):5'- AAGCTCTCCCTGGGAACG -3'
(R):5'- ATGGAACTCTGCGTGAGGACC -3'
Posted On 2016-07-06