Incidental Mutation 'IGL02027:Adipor1'
ID 184228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adipor1
Ensembl Gene ENSMUSG00000026457
Gene Name adiponectin receptor 1
Synonyms 2810031L11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02027
Quality Score
Status
Chromosome 1
Chromosomal Location 134343116-134361089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134358923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 312 (T312A)
Ref Sequence ENSEMBL: ENSMUSP00000107856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027727] [ENSMUST00000112237]
AlphaFold Q91VH1
Predicted Effect probably benign
Transcript: ENSMUST00000027727
AA Change: T312A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457
AA Change: T312A

DomainStartEndE-ValueType
Blast:RING 72 127 2e-31 BLAST
Pfam:HlyIII 129 352 2.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112237
AA Change: T312A

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457
AA Change: T312A

DomainStartEndE-ValueType
Blast:RING 72 127 2e-31 BLAST
Pfam:HlyIII 129 352 7.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188474
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Begain T G 12: 109,000,235 (GRCm39) K384Q possibly damaging Het
C2cd6 T C 1: 59,099,763 (GRCm39) I393V probably benign Het
Catsperz A G 19: 6,902,664 (GRCm39) V5A probably benign Het
Cbx1 T A 11: 96,692,315 (GRCm39) F67L probably damaging Het
Ccn2 A G 10: 24,472,307 (GRCm39) S117G probably damaging Het
Ccn3 T C 15: 54,611,330 (GRCm39) V155A probably damaging Het
Cerkl T C 2: 79,171,630 (GRCm39) probably benign Het
Cubn G T 2: 13,292,405 (GRCm39) D3259E probably damaging Het
Cyp2u1 A G 3: 131,091,600 (GRCm39) Y307H probably damaging Het
Dcaf6 A C 1: 165,251,910 (GRCm39) D71E probably damaging Het
Dclk3 A T 9: 111,296,911 (GRCm39) K152* probably null Het
Fcgbp G A 7: 27,774,629 (GRCm39) D68N probably damaging Het
Gm6576 A G 15: 27,025,952 (GRCm39) noncoding transcript Het
Has2 T C 15: 56,531,567 (GRCm39) T383A probably damaging Het
Htr1f T A 16: 64,746,684 (GRCm39) K203* probably null Het
Il36g A T 2: 24,082,797 (GRCm39) I191L probably benign Het
Iqgap3 T C 3: 87,994,649 (GRCm39) I116T possibly damaging Het
Itga1 C T 13: 115,126,591 (GRCm39) probably null Het
Kif5b T C 18: 6,209,089 (GRCm39) D891G possibly damaging Het
Krt74 T C 15: 101,665,229 (GRCm39) noncoding transcript Het
Lama3 A G 18: 12,649,570 (GRCm39) K1776E probably damaging Het
Lats1 T C 10: 7,588,712 (GRCm39) S1110P probably benign Het
Lipo3 T A 19: 33,557,919 (GRCm39) K158* probably null Het
Lrrc9 T A 12: 72,517,108 (GRCm39) probably benign Het
Met A G 6: 17,563,726 (GRCm39) probably benign Het
Mmp13 A G 9: 7,272,955 (GRCm39) Y105C probably damaging Het
Mtus1 T C 8: 41,446,638 (GRCm39) E1151G probably damaging Het
Nptx1 T C 11: 119,435,422 (GRCm39) D298G possibly damaging Het
Odad4 C T 11: 100,460,728 (GRCm39) T495M probably damaging Het
Pdlim1 T C 19: 40,231,910 (GRCm39) N156S probably benign Het
Pdzk1 A G 3: 96,761,989 (GRCm39) probably benign Het
Pex5 A G 6: 124,375,847 (GRCm39) S448P probably benign Het
Polr3e G T 7: 120,530,186 (GRCm39) R124L probably damaging Het
Ppp2r2c C T 5: 37,109,816 (GRCm39) R392C probably damaging Het
Prpf4b T C 13: 35,073,554 (GRCm39) I543T probably benign Het
Prr27 A G 5: 87,991,302 (GRCm39) S305G possibly damaging Het
Repin1 A G 6: 48,573,407 (GRCm39) H56R probably damaging Het
Ryr2 A T 13: 11,611,998 (GRCm39) L408H probably damaging Het
Sbf2 T A 7: 110,060,348 (GRCm39) Q205H probably damaging Het
Sgo2b G A 8: 64,379,863 (GRCm39) P990S probably benign Het
Slc33a1 G T 3: 63,855,562 (GRCm39) P361Q probably damaging Het
Tmem98 T C 11: 80,706,483 (GRCm39) probably benign Het
Vmn1r16 T C 6: 57,300,044 (GRCm39) T193A possibly damaging Het
Vmn1r5 T A 6: 56,962,640 (GRCm39) I105K probably damaging Het
Zfp473 A T 7: 44,387,462 (GRCm39) probably benign Het
Other mutations in Adipor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2014-05-07