Incidental Mutation 'IGL00957:Adora1'
ID26711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adora1
Ensembl Gene ENSMUSG00000042429
Gene Nameadenosine A1 receptor
SynonymsRi, A1AR, A1R, A1-AR, AA1R
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00957
Quality Score
Status
Chromosome1
Chromosomal Location134199223-134235431 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134203213 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 240 (L240P)
Ref Sequence ENSEMBL: ENSMUSP00000132105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038191] [ENSMUST00000038445] [ENSMUST00000086465] [ENSMUST00000169927] [ENSMUST00000187631] [ENSMUST00000191577]
Predicted Effect probably damaging
Transcript: ENSMUST00000038191
AA Change: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429
AA Change: L240P

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: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429
AA Change: L240P

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: L240P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429
AA Change: L240P

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
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 T A 1: 63,534,311 I246N probably benign Het
Ago4 C T 4: 126,517,133 V188I probably benign Het
Ccdc138 T A 10: 58,529,016 probably benign Het
Cpeb4 A G 11: 31,873,204 Y306C probably damaging Het
Ctsz T C 2: 174,427,978 E272G probably damaging Het
Dst G A 1: 34,228,407 V5155I probably benign Het
Fabp12 C T 3: 10,250,213 probably null Het
Fam208b T A 13: 3,577,101 I950F possibly damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hpcal1 G A 12: 17,787,590 E142K probably benign Het
Hspa4 G A 11: 53,280,687 T230I probably benign Het
Htt T C 5: 34,806,724 V387A probably benign Het
Loxl3 A G 6: 83,048,766 probably benign Het
Lrrc30 G A 17: 67,632,504 S27L probably benign Het
Mtpn A G 6: 35,539,612 probably benign Het
Mug2 A G 6: 122,040,654 Y450C probably damaging Het
Ncl A G 1: 86,356,369 probably null Het
Olfr1056 A T 2: 86,356,133 V83E possibly damaging Het
Psmd3 T A 11: 98,685,568 S99T probably benign Het
Rb1cc1 G A 1: 6,249,539 A1061T probably damaging Het
Rhbdd1 T C 1: 82,340,641 Y82H probably damaging Het
Slc5a6 T C 5: 31,038,935 probably benign Het
Sox6 T C 7: 115,777,092 K135R probably damaging Het
Tbx21 A G 11: 97,099,094 V424A probably benign Het
Trpa1 A T 1: 14,881,668 Y936N probably damaging Het
Ttn G T 2: 76,738,936 D25458E probably damaging Het
Zfp629 C T 7: 127,612,724 V6M probably damaging Het
Other mutations in Adora1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01641:Adora1 APN 1 134234114 missense probably damaging 1.00
IGL03025:Adora1 APN 1 134203069 missense probably damaging 1.00
R4378:Adora1 UTSW 1 134203210 missense probably damaging 0.96
R5248:Adora1 UTSW 1 134203486 missense possibly damaging 0.49
R5327:Adora1 UTSW 1 134203010 nonsense probably null
R5408:Adora1 UTSW 1 134203163 missense probably benign 0.02
R6810:Adora1 UTSW 1 134234039 missense probably damaging 1.00
R7844:Adora1 UTSW 1 134203538 missense probably damaging 1.00
R7927:Adora1 UTSW 1 134203538 missense probably damaging 1.00
X0028:Adora1 UTSW 1 134203576 missense probably damaging 0.99
Z1177:Adora1 UTSW 1 134203009 missense probably benign 0.00
Z1177:Adora1 UTSW 1 134234124 missense possibly damaging 0.64
Z1177:Adora1 UTSW 1 134234228 missense possibly damaging 0.69
Posted On2013-04-17