Incidental Mutation 'R7792:Adora2a'
ID 599959
Institutional Source Beutler Lab
Gene Symbol Adora2a
Ensembl Gene ENSMUSG00000020178
Gene Name adenosine A2a receptor
Synonyms A2aR, AA2AR, A2a, Rs, A2AAR, ARA2A
MMRRC Submission 045848-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7792 (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 G at 75169480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 315 (S315G)
Ref Sequence ENSEMBL: ENSMUSP00000101060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105420]
AlphaFold Q60613
Predicted Effect probably benign
Transcript: ENSMUST00000105420
AA Change: S315G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000101060
Gene: ENSMUSG00000020178
AA Change: S315G

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 0.0592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (97/97)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G T 8: 111,769,896 (GRCm39) V332F possibly damaging Het
Abhd15 T A 11: 77,409,560 (GRCm39) S425T probably benign Het
Acads A T 5: 115,250,840 (GRCm39) F152L probably damaging Het
Acp3 T A 9: 104,204,165 (GRCm39) H43L probably damaging Het
Agxt2 A T 15: 10,381,472 (GRCm39) D242V probably damaging Het
Alx4 A G 2: 93,473,056 (GRCm39) D18G probably damaging Het
Ankrd11 A G 8: 123,610,970 (GRCm39) S2639P probably damaging Het
Arhgap35 A T 7: 16,295,453 (GRCm39) V1204D possibly damaging Het
Arid2 A G 15: 96,267,256 (GRCm39) T579A probably benign Het
B4galt1 C T 4: 40,809,373 (GRCm39) G332S probably benign Het
B4galt4 C A 16: 38,578,172 (GRCm39) Y206* probably null Het
Bcl2l14 A T 6: 134,409,277 (GRCm39) T284S possibly damaging Het
Bop1 C T 15: 76,338,548 (GRCm39) V465M probably damaging Het
Cacna1b A T 2: 24,567,977 (GRCm39) L1037H probably damaging Het
Cadm2 G A 16: 66,568,523 (GRCm39) T254M probably benign Het
Ccdc180 T C 4: 45,890,389 (GRCm39) probably null Het
Ccdc7a A T 8: 129,618,918 (GRCm39) D875E possibly damaging Het
Cenpu A G 8: 47,015,502 (GRCm39) D139G possibly damaging Het
Cep57l1 A T 10: 41,598,936 (GRCm39) C292* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Chst14 A G 2: 118,758,256 (GRCm39) H350R probably benign Het
Clca3a1 T A 3: 144,455,492 (GRCm39) I434F possibly damaging Het
Crispld2 A G 8: 120,757,809 (GRCm39) T385A probably benign Het
Crmp1 A C 5: 37,441,439 (GRCm39) N507T probably damaging Het
Cyp4f40 T A 17: 32,890,143 (GRCm39) I271N probably damaging Het
D630003M21Rik G T 2: 158,052,082 (GRCm39) Q670K possibly damaging Het
Ddx42 T C 11: 106,127,822 (GRCm39) I342T probably damaging Het
Dnah9 T A 11: 65,740,839 (GRCm39) I4116F probably damaging Het
Ehd2 T C 7: 15,684,683 (GRCm39) H372R probably benign Het
Gja8 C A 3: 96,827,092 (GRCm39) C190F probably damaging Het
Gm8297 A T 14: 16,165,939 (GRCm39) D72V possibly damaging Het
Golgb1 A G 16: 36,739,092 (GRCm39) D2518G probably benign Het
Hsd17b12 C A 2: 93,863,986 (GRCm39) M285I probably benign Het
Hus1 T C 11: 8,950,133 (GRCm39) E196G probably damaging Het
Ift70a2 T C 2: 75,807,273 (GRCm39) N413S probably benign Het
Irf2 G A 8: 47,260,314 (GRCm39) R82Q probably damaging Het
Irx2 A G 13: 72,779,493 (GRCm39) D259G possibly damaging Het
Jph1 T A 1: 17,074,602 (GRCm39) Q472L probably benign Het
Kif2a T C 13: 107,124,490 (GRCm39) Q142R probably benign Het
Lonp1 T C 17: 56,929,515 (GRCm39) Y174C probably damaging Het
Mapk14 T C 17: 28,965,271 (GRCm39) F348L probably damaging Het
Marchf10 G T 11: 105,281,054 (GRCm39) D410E probably benign Het
Mff A T 1: 82,724,802 (GRCm39) probably null Het
Mtrex A T 13: 113,009,443 (GRCm39) D985E probably benign Het
Necab3 G A 2: 154,388,200 (GRCm39) R271C probably damaging Het
Nlrp4e T A 7: 23,021,182 (GRCm39) F556L possibly damaging Het
Nt5c2 T C 19: 46,878,385 (GRCm39) K425E probably benign Het
Ofcc1 A T 13: 40,296,302 (GRCm39) W511R probably damaging Het
Or1j18 A C 2: 36,624,342 (GRCm39) E3A probably benign Het
Or2v1 T A 11: 49,025,496 (GRCm39) I159N possibly damaging Het
Or4k77 T C 2: 111,199,748 (GRCm39) I257T probably benign Het
Or52p2 T A 7: 102,238,090 (GRCm39) probably benign Het
P2rx2 G C 5: 110,488,210 (GRCm39) A448G possibly damaging Het
Pcnx2 A T 8: 126,618,757 (GRCm39) N56K possibly damaging Het
Pdzd7 A C 19: 45,028,657 (GRCm39) M162R possibly damaging Het
Phyhd1 A G 2: 30,156,782 (GRCm39) M1V probably null Het
Plaat3 T C 19: 7,556,660 (GRCm39) C154R probably benign Het
Plekha5 A G 6: 140,534,950 (GRCm39) E1126G possibly damaging Het
Plekhm1 A T 11: 103,287,886 (GRCm39) V87D probably damaging Het
Pole G A 5: 110,445,332 (GRCm39) probably null Het
Pramel22 A G 4: 143,381,123 (GRCm39) L300P probably benign Het
R3hcc1 T C 14: 69,942,957 (GRCm39) M207V probably benign Het
R3hcc1l T A 19: 42,552,403 (GRCm39) S467T probably damaging Het
Rasgrp4 G T 7: 28,842,527 (GRCm39) R267L probably damaging Het
Rbm20 T C 19: 53,838,567 (GRCm39) I848T probably benign Het
Rims2 T C 15: 39,061,923 (GRCm39) S56P possibly damaging Het
Rmc1 G A 18: 12,314,656 (GRCm39) D289N probably damaging Het
Sacs T A 14: 61,447,222 (GRCm39) D3089E probably benign Het
Sall2 C T 14: 52,553,521 (GRCm39) G16R probably damaging Het
Scgb1b19 G A 7: 32,987,912 (GRCm39) C93Y probably damaging Het
Scn3a T A 2: 65,297,334 (GRCm39) K1442* probably null Het
Sepsecs A G 5: 52,801,391 (GRCm39) S424P probably damaging Het
Set G T 2: 29,960,323 (GRCm39) V219F probably benign Het
Sh3tc1 A T 5: 35,868,295 (GRCm39) F390I probably damaging Het
Simc1 G A 13: 54,695,143 (GRCm39) V1269M probably damaging Het
Ska3 T G 14: 58,047,512 (GRCm39) D341A probably damaging Het
Slc16a10 A T 10: 39,913,411 (GRCm39) probably null Het
Srgap1 T A 10: 121,761,872 (GRCm39) N92I probably damaging Het
Sspo T C 6: 48,431,624 (GRCm39) V639A probably damaging Het
Stk11 A T 10: 79,961,271 (GRCm39) probably benign Het
Sult5a1 G A 8: 123,872,180 (GRCm39) H221Y probably benign Het
Sytl3 T A 17: 7,003,977 (GRCm39) M559K probably benign Het
Tab2 A C 10: 7,794,897 (GRCm39) D528E possibly damaging Het
Tbc1d15 A G 10: 115,057,492 (GRCm39) I218T possibly damaging Het
Tenm4 T A 7: 96,423,221 (GRCm39) M672K possibly damaging Het
Tent4b A T 8: 88,979,182 (GRCm39) Q561L probably benign Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Thsd1 G T 8: 22,733,114 (GRCm39) G54W probably damaging Het
Tmprss15 A T 16: 78,800,275 (GRCm39) L618I probably damaging Het
Top3a T C 11: 60,633,790 (GRCm39) S769G probably benign Het
Trp63 C A 16: 25,686,974 (GRCm39) P396Q possibly damaging Het
Uggt1 T C 1: 36,247,065 (GRCm39) S311G probably damaging Het
Usp10 G A 8: 120,678,740 (GRCm39) E574K possibly damaging Het
Wfdc6b T A 2: 164,459,822 (GRCm39) I148K probably damaging Het
Zcchc2 T G 1: 105,945,982 (GRCm39) I474R probably damaging Het
Zdhhc2 A G 8: 40,900,182 (GRCm39) K82R probably benign Het
Zfp273 A G 13: 67,974,135 (GRCm39) D421G possibly damaging Het
Zfp280d T C 9: 72,238,601 (GRCm39) I639T probably damaging Het
Zfp429 A T 13: 67,538,558 (GRCm39) C295* probably null 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
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'- TGCACATCATCAACTGCTTCAC -3'
(R):5'- GTAAGAAGCTCTACATCCCCAG -3'

Sequencing Primer
(F):5'- TCTGCTCCACGTGCCAG -3'
(R):5'- TACATCCCCAGGAGACCCTTGG -3'
Posted On 2019-11-26