Incidental Mutation 'R5795:Adipor1'
ID 447151
Institutional Source Beutler Lab
Gene Symbol Adipor1
Ensembl Gene ENSMUSG00000026457
Gene Name adiponectin receptor 1
Synonyms 2810031L11Rik
MMRRC Submission 043386-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5795 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134343116-134361089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134352641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 137 (N137K)
Ref Sequence ENSEMBL: ENSMUSP00000107856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027727] [ENSMUST00000112237]
AlphaFold Q91VH1
Predicted Effect probably damaging
Transcript: ENSMUST00000027727
AA Change: N137K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457
AA Change: N137K

DomainStartEndE-ValueType
Blast:RING 72 127 2e-31 BLAST
Pfam:HlyIII 129 352 2.2e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112237
AA Change: N137K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457
AA Change: N137K

DomainStartEndE-ValueType
Blast:RING 72 127 2e-31 BLAST
Pfam:HlyIII 129 352 7.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148822
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a receptor for the fat-derived hormone adiponectin. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. Homozygous knockout mice for this gene exhibit elevated plasma glucose and insulin levels as well as impaired glucose tolerance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal homeostasis, adipose tissue morphology and adaptive thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,186,688 (GRCm39) V261A probably benign Het
Ahnak A T 19: 8,989,746 (GRCm39) K3677* probably null Het
Ankrd24 C A 10: 81,480,937 (GRCm39) probably benign Het
Appl1 G T 14: 26,664,773 (GRCm39) P420Q probably benign Het
Bmp8b C A 4: 123,015,761 (GRCm39) F249L possibly damaging Het
Brat1 G T 5: 140,698,827 (GRCm39) A275S probably benign Het
C5ar1 T C 7: 15,982,319 (GRCm39) K234E possibly damaging Het
Cblif A G 19: 11,737,740 (GRCm39) T384A probably damaging Het
Ccs A G 19: 4,883,367 (GRCm39) probably null Het
Chmp5 T G 4: 40,950,562 (GRCm39) probably null Het
Chrna3 T A 9: 54,922,552 (GRCm39) T419S probably benign Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Csf3 G T 11: 98,592,853 (GRCm39) C72F probably damaging Het
Dbndd1 A G 8: 124,236,619 (GRCm39) I83T probably damaging Het
Ercc6 A G 14: 32,248,309 (GRCm39) K287E probably damaging Het
F5 C T 1: 163,979,578 (GRCm39) T16I probably benign Het
Hephl1 C T 9: 14,981,056 (GRCm39) G792E probably damaging Het
Hmmr T A 11: 40,612,733 (GRCm39) D158V probably damaging Het
Hsd11b1 A G 1: 192,922,940 (GRCm39) S76P possibly damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Irf7 G A 7: 140,845,029 (GRCm39) P118L probably damaging Het
Lama1 A G 17: 68,103,722 (GRCm39) N1981S probably benign Het
Lrp4 A G 2: 91,304,816 (GRCm39) D224G probably benign Het
Mink1 T C 11: 70,498,616 (GRCm39) Y594H possibly damaging Het
Minpp1 G A 19: 32,491,557 (GRCm39) V412M probably damaging Het
Muc5b G A 7: 141,425,478 (GRCm39) V4708M possibly damaging Het
Mycl G A 4: 122,890,415 (GRCm39) E34K probably damaging Het
Oaf T A 9: 43,135,241 (GRCm39) D179V probably damaging Het
Ogfod2 G A 5: 124,252,824 (GRCm39) G278D probably damaging Het
Or2h1 A G 17: 37,404,661 (GRCm39) L35P probably damaging Het
Or5b12 A G 19: 12,897,188 (GRCm39) F162L possibly damaging Het
Paf1 T G 7: 28,096,043 (GRCm39) M250R probably damaging Het
Pcdh8 T C 14: 80,008,420 (GRCm39) T48A possibly damaging Het
Pdzph1 A G 17: 59,192,862 (GRCm39) V1096A possibly damaging Het
Polr3b T C 10: 84,512,875 (GRCm39) S586P probably damaging Het
Polr3b A T 10: 84,464,116 (GRCm39) E25D probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,348,475 (GRCm39) M274T possibly damaging Het
Slc31a2 T C 4: 62,215,289 (GRCm39) V112A probably damaging Het
Spire1 A T 18: 67,628,265 (GRCm39) S412T probably benign Het
Tanc1 A G 2: 59,637,926 (GRCm39) T876A possibly damaging Het
Tango6 T A 8: 107,444,709 (GRCm39) L538H probably damaging Het
Tas2r125 G A 6: 132,886,621 (GRCm39) G3D probably damaging Het
Tbc1d32 A T 10: 56,091,158 (GRCm39) M125K possibly damaging Het
Traf5 T C 1: 191,731,807 (GRCm39) S345G probably benign Het
Ush2a A T 1: 188,175,594 (GRCm39) I1231F probably benign Het
Vmn2r104 G T 17: 20,250,372 (GRCm39) T633N probably benign Het
Vmn2r104 A G 17: 20,250,544 (GRCm39) S576P possibly damaging Het
Vmn2r105 A T 17: 20,448,998 (GRCm39) C60S probably benign Het
Zfp316 A T 5: 143,248,594 (GRCm39) D217E unknown Het
Zfp456 A T 13: 67,515,039 (GRCm39) D222E probably benign Het
Other mutations in Adipor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Adipor1 APN 1 134,358,923 (GRCm39) missense probably benign 0.07
IGL02186:Adipor1 APN 1 134,353,698 (GRCm39) missense probably benign 0.02
IGL03365:Adipor1 APN 1 134,359,380 (GRCm39) missense possibly damaging 0.67
BB001:Adipor1 UTSW 1 134,353,731 (GRCm39) missense probably damaging 1.00
BB011:Adipor1 UTSW 1 134,353,731 (GRCm39) missense probably damaging 1.00
R0898:Adipor1 UTSW 1 134,351,814 (GRCm39) critical splice donor site probably null
R1625:Adipor1 UTSW 1 134,351,802 (GRCm39) missense possibly damaging 0.88
R1938:Adipor1 UTSW 1 134,350,841 (GRCm39) missense probably benign 0.03
R1956:Adipor1 UTSW 1 134,350,771 (GRCm39) missense probably benign 0.00
R1957:Adipor1 UTSW 1 134,350,771 (GRCm39) missense probably benign 0.00
R1958:Adipor1 UTSW 1 134,350,771 (GRCm39) missense probably benign 0.00
R2921:Adipor1 UTSW 1 134,353,731 (GRCm39) missense possibly damaging 0.90
R4666:Adipor1 UTSW 1 134,352,643 (GRCm39) missense probably damaging 1.00
R5560:Adipor1 UTSW 1 134,353,778 (GRCm39) missense possibly damaging 0.69
R7924:Adipor1 UTSW 1 134,353,731 (GRCm39) missense probably damaging 1.00
R8317:Adipor1 UTSW 1 134,355,905 (GRCm39) missense probably benign 0.03
R9489:Adipor1 UTSW 1 134,352,553 (GRCm39) missense probably damaging 1.00
R9605:Adipor1 UTSW 1 134,352,553 (GRCm39) missense probably damaging 1.00
R9641:Adipor1 UTSW 1 134,355,878 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCTAAAGGCGTCGTGTGTG -3'
(R):5'- CCTTGGCAAGTAAGATTGGAATTC -3'

Sequencing Primer
(F):5'- CTAAAGGCGTCGTGTGTGTTGTAG -3'
(R):5'- ATGACTAGAATGGTGCCC -3'
Posted On 2016-12-15