Incidental Mutation 'R4378:Adora1'
ID 325176
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 041121-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 134126961-134163169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134130948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 241 (F241S)
Ref Sequence ENSEMBL: ENSMUSP00000132105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038191] [ENSMUST00000038445] [ENSMUST00000086465] [ENSMUST00000169927] [ENSMUST00000187631] [ENSMUST00000191577]
AlphaFold Q60612
Predicted Effect probably damaging
Transcript: ENSMUST00000038191
AA Change: F241S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: F241S

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 probably damaging
Transcript: ENSMUST00000086465
AA Change: F241S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: F241S

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 damaging
Transcript: ENSMUST00000169927
AA Change: F241S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: F241S

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
Meta Mutation Damage Score 0.4413 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly 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
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
R7952:Adora1 UTSW 1 134,131,024 (GRCm39) missense possibly damaging 0.90
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'- GTGACCCGGAACTTGTGGATTC -3'
(R):5'- CCCGTGATCAAGTGTGAGTTC -3'

Sequencing Primer
(F):5'- CTTGTGGATTCGGAAGGCATAGAC -3'
(R):5'- GGAGTACATGGTCTACTTCAACTTC -3'
Posted On 2015-07-06