Incidental Mutation 'R2921:Adipor1'
ID 255502
Institutional Source Beutler Lab
Gene Symbol Adipor1
Ensembl Gene ENSMUSG00000026457
Gene Name adiponectin receptor 1
Synonyms 2810031L11Rik
MMRRC Submission 040506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2921 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 134343116-134361089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134353731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 172 (V172A)
Ref Sequence ENSEMBL: ENSMUSP00000107856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027727] [ENSMUST00000112237]
AlphaFold Q91VH1
Predicted Effect possibly damaging
Transcript: ENSMUST00000027727
AA Change: V172A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457
AA Change: V172A

DomainStartEndE-ValueType
Blast:RING 72 127 2e-31 BLAST
Pfam:HlyIII 129 352 2.2e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112237
AA Change: V172A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457
AA Change: V172A

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Akt2 A G 7: 27,328,411 (GRCm39) K146R probably benign Het
Atg4a T C X: 139,941,768 (GRCm39) V284A possibly damaging Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Ccn5 G A 2: 163,674,266 (GRCm39) R222Q probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dpm3 C T 3: 89,174,062 (GRCm39) L8F probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Fndc1 A G 17: 8,023,707 (GRCm39) S83P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Gm57858 T C 3: 36,080,077 (GRCm39) M227V probably null Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Hgd T C 16: 37,439,330 (GRCm39) F213L probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mlkl T C 8: 112,043,079 (GRCm39) E356G probably benign Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Nr1h4 A T 10: 89,334,223 (GRCm39) Y42N probably damaging Het
Nup155 A C 15: 8,183,125 (GRCm39) E1228D probably damaging Het
Or4c113 A G 2: 88,884,843 (GRCm39) V309A probably benign Het
Pde4dip T C 3: 97,626,885 (GRCm39) N1218D probably benign Het
Ralgps1 A T 2: 33,033,082 (GRCm39) I449N probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rfx7 G A 9: 72,524,946 (GRCm39) G712D possibly damaging Het
Rnf151 C T 17: 24,935,235 (GRCm39) G232D possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Safb2 A G 17: 56,875,906 (GRCm39) V89A possibly damaging Het
Setx TGTGG TG 2: 29,044,072 (GRCm39) probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Slc26a2 T A 18: 61,335,007 (GRCm39) I149F probably damaging Het
Slc6a15 A G 10: 103,254,248 (GRCm39) D728G probably damaging Het
Slfn3 A G 11: 83,105,871 (GRCm39) M623V probably benign Het
Smim1 A G 4: 154,108,097 (GRCm39) probably benign Het
Spatc1 T C 15: 76,168,125 (GRCm39) S195P probably damaging Het
Tmx1 T A 12: 70,512,895 (GRCm39) C268S probably benign Het
Trpc6 A T 9: 8,653,034 (GRCm39) L613F possibly damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zfp507 T C 7: 35,494,224 (GRCm39) E273G probably damaging 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
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
R5795:Adipor1 UTSW 1 134,352,641 (GRCm39) missense probably damaging 1.00
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'- GCTGATGGCAGTTCACATAGC -3'
(R):5'- CCGTTAAGAATTCCAGCAGCTC -3'

Sequencing Primer
(F):5'- GATGGCAGTTCACATAGCTAATTCCC -3'
(R):5'- GTTAAGAATTCCAGCAGCTCCAAGTG -3'
Posted On 2014-12-29