Incidental Mutation 'R7952:Adora1'
ID 649594
Institutional Source Beutler Lab
Gene Symbol Adora1
Ensembl Gene ENSMUSG00000042429
Gene Name adenosine A1 receptor
Synonyms A1-AR, A1R, Ri, ARA1, AA1R, A1AR
MMRRC Submission 045996-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7952 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134126961-134163169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134131024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000043522 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038191] [ENSMUST00000038445] [ENSMUST00000086465] [ENSMUST00000169927] [ENSMUST00000187631] [ENSMUST00000191577]
AlphaFold Q60612
Predicted Effect possibly damaging
Transcript: ENSMUST00000038191
AA Change: S216P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: S216P

DomainStartEndE-ValueType
Pfam:7tm_4 17 305 1.1e-10 PFAM
Pfam:7TM_GPCR_Srsx 20 303 5e-14 PFAM
Pfam:7tm_1 26 288 9.8e-52 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038445
SMART Domains Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451

DomainStartEndE-ValueType
low complexity region 41 66 N/A INTRINSIC
FN3 77 160 4.84e-9 SMART
IG 187 270 9.78e-7 SMART
FN3 273 355 1.1e-7 SMART
IGc2 400 467 1.38e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000086465
AA Change: S216P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: S216P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 20 303 5e-14 PFAM
Pfam:7tm_1 26 288 1.9e-63 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169927
AA Change: S216P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: S216P

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 20 303 5e-14 PFAM
Pfam:7tm_1 26 288 1.9e-63 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187631
SMART Domains Protein: ENSMUSP00000140801
Gene: ENSMUSG00000042429

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 17 146 1.2e-4 PFAM
Pfam:7TM_GPCR_Srsx 20 148 1.6e-9 PFAM
Pfam:7tm_1 26 176 1.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191577
SMART Domains Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451

DomainStartEndE-ValueType
low complexity region 41 66 N/A INTRINSIC
FN3 77 160 4.84e-9 SMART
IG 187 270 9.78e-7 SMART
FN3 273 355 1.1e-7 SMART
IGc2 400 467 1.38e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (47/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele exhibit allodynia, hyperalgesia, increased anxiety, and decreased hypoxic neuroprotection. Homozygotes for a different null allele show increased susceptibility to kidney reperfusion injury and absent tubuloglomerular feedback response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Arhgap17 G T 7: 122,885,914 (GRCm39) S739R probably benign Het
Bphl A G 13: 34,230,780 (GRCm39) T75A probably benign Het
Ccdc73 G A 2: 104,775,801 (GRCm39) probably null Het
Cela3b T C 4: 137,149,219 (GRCm39) I262V probably benign Het
Chpf T C 1: 75,455,586 (GRCm39) N55S probably benign Het
Chst8 A G 7: 34,374,919 (GRCm39) Y307H probably damaging Het
Cmtm2b G T 8: 105,057,203 (GRCm39) E188* probably null Het
Cmya5 TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG 13: 93,233,512 (GRCm39) probably benign Het
Cxadr C T 16: 78,131,123 (GRCm39) T213M possibly damaging Het
D3Ertd751e T A 3: 41,703,096 (GRCm39) probably null Het
Dhx32 T C 7: 133,350,725 (GRCm39) Y115C probably benign Het
Dop1b C A 16: 93,546,848 (GRCm39) T284K possibly damaging Het
Dync2h1 A G 9: 7,129,802 (GRCm39) V1732A possibly damaging Het
Egf C T 3: 129,533,645 (GRCm39) R65Q probably damaging Het
Fat4 T G 3: 38,945,870 (GRCm39) S1588A probably damaging Het
Fmnl3 A G 15: 99,220,518 (GRCm39) V588A probably damaging Het
Galnt3 C T 2: 65,928,186 (GRCm39) E237K probably benign Het
Grik2 T C 10: 49,298,633 (GRCm39) I363V probably benign Het
Grik3 C T 4: 125,598,340 (GRCm39) T769I probably damaging Het
Hpd A T 5: 123,316,327 (GRCm39) D141E possibly damaging Het
Hrc A T 7: 44,985,692 (GRCm39) D281V probably damaging Het
Igfn1 A T 1: 135,891,693 (GRCm39) I2274K probably damaging Het
Iqgap3 A G 3: 88,005,677 (GRCm39) I502V probably benign Het
Kcnh8 A T 17: 53,266,493 (GRCm39) Q835L probably benign Het
Kmt2d C T 15: 98,748,649 (GRCm39) G2892R unknown Het
Lama4 T G 10: 38,906,486 (GRCm39) I284S probably benign Het
Madd C A 2: 90,992,886 (GRCm39) G1011V probably damaging Het
Mroh2b T C 15: 4,980,693 (GRCm39) F1421L probably damaging Het
Nadk G T 4: 155,661,524 (GRCm39) D17Y probably benign Het
Nedd9 C A 13: 41,470,431 (GRCm39) D241Y probably damaging Het
Notch2 T C 3: 98,007,552 (GRCm39) V434A probably benign Het
Ofcc1 C T 13: 40,433,781 (GRCm39) R108Q probably benign Het
Or10al2 T C 17: 37,983,708 (GRCm39) Y265H probably damaging Het
Or51g1 A G 7: 102,633,721 (GRCm39) F217L probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pramel41 T C 5: 94,594,902 (GRCm39) V254A probably benign Het
Prss55 A G 14: 64,313,132 (GRCm39) Y251H probably damaging Het
Rec8 T C 14: 55,862,760 (GRCm39) V573A possibly damaging Het
Ryr2 T C 13: 11,661,313 (GRCm39) probably null Het
Sec31b A G 19: 44,508,979 (GRCm39) S667P probably benign Het
Smim17 A G 7: 6,427,849 (GRCm39) D45G possibly damaging Het
Sspo A G 6: 48,464,263 (GRCm39) T3906A probably damaging Het
Tanc2 G T 11: 105,787,423 (GRCm39) G908W probably damaging Het
Tcf7l2 A T 19: 55,886,989 (GRCm39) M1L probably benign Het
Tpx2 C T 2: 152,735,514 (GRCm39) A714V probably damaging Het
Trgc4 T A 13: 19,533,740 (GRCm39) S121R Het
Trmt1 G A 8: 85,415,969 (GRCm39) R9H possibly damaging Het
Unc13a A T 8: 72,111,131 (GRCm39) V360E possibly damaging Het
Vmn1r225 T A 17: 20,722,589 (GRCm39) I10N probably damaging Het
Xkr4 A G 1: 3,740,842 (GRCm39) S244P possibly damaging Het
Zkscan14 G T 5: 145,132,708 (GRCm39) H274Q probably damaging Het
Other mutations in Adora1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00957:Adora1 APN 1 134,130,951 (GRCm39) missense probably damaging 1.00
IGL01641:Adora1 APN 1 134,161,852 (GRCm39) missense probably damaging 1.00
IGL03025:Adora1 APN 1 134,130,807 (GRCm39) missense probably damaging 1.00
R4378:Adora1 UTSW 1 134,130,948 (GRCm39) missense probably damaging 0.96
R5248:Adora1 UTSW 1 134,131,224 (GRCm39) missense possibly damaging 0.49
R5327:Adora1 UTSW 1 134,130,748 (GRCm39) nonsense probably null
R5408:Adora1 UTSW 1 134,130,901 (GRCm39) missense probably benign 0.02
R6810:Adora1 UTSW 1 134,161,777 (GRCm39) missense probably damaging 1.00
R7844:Adora1 UTSW 1 134,131,276 (GRCm39) missense probably damaging 1.00
R8241:Adora1 UTSW 1 134,131,062 (GRCm39) missense probably damaging 1.00
X0028:Adora1 UTSW 1 134,131,314 (GRCm39) missense probably damaging 0.99
Z1177:Adora1 UTSW 1 134,161,966 (GRCm39) missense possibly damaging 0.69
Z1177:Adora1 UTSW 1 134,161,862 (GRCm39) missense possibly damaging 0.64
Z1177:Adora1 UTSW 1 134,130,747 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATAGACGATGGGGTTCATGGC -3'
(R):5'- ACAAGCCTGGATAGCCAACG -3'

Sequencing Primer
(F):5'- CCGTGTGTGAGGAAGATGGC -3'
(R):5'- CAACGGCAGTGTTGGGG -3'
Posted On 2020-09-15