Incidental Mutation 'IGL03365:Adipor1'
ID 420055
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 # IGL03365
Quality Score
Status
Chromosome 1
Chromosomal Location 134343116-134361089 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134359380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 371 (D371G)
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: D371G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027727
Gene: ENSMUSG00000026457
AA Change: D371G

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: D371G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107856
Gene: ENSMUSG00000026457
AA Change: D371G

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik T G 5: 25,202,809 (GRCm39) probably benign Het
Adam6a T A 12: 113,507,765 (GRCm39) I46N possibly damaging Het
Akr1c21 C T 13: 4,633,851 (GRCm39) P307S probably benign Het
Aoc1l3 A G 6: 48,965,531 (GRCm39) D513G probably damaging Het
Asxl1 T A 2: 153,243,674 (GRCm39) I1408N probably damaging Het
Avil T C 10: 126,846,852 (GRCm39) V472A probably damaging Het
Bpifa6 C A 2: 153,831,204 (GRCm39) Q257K possibly damaging Het
Cacna2d4 G T 6: 119,248,225 (GRCm39) V380L probably benign Het
Clip1 A C 5: 123,721,649 (GRCm39) S1111A probably damaging Het
Dennd4c A G 4: 86,725,663 (GRCm39) probably null Het
Dock8 C T 19: 25,077,048 (GRCm39) P506L possibly damaging Het
Ecsit A C 9: 21,987,822 (GRCm39) H72Q probably damaging Het
Eif1b T A 9: 120,323,186 (GRCm39) D15E probably benign Het
Enpp1 A G 10: 24,544,923 (GRCm39) Y319H probably damaging Het
Fat3 T C 9: 15,907,765 (GRCm39) N2746D probably damaging Het
Fgf20 G T 8: 40,732,932 (GRCm39) L115I possibly damaging Het
Hip1r C T 5: 124,138,230 (GRCm39) R775W probably damaging Het
Hycc1 A T 5: 24,188,158 (GRCm39) Y245N probably benign Het
Lrp12 A T 15: 39,735,917 (GRCm39) S672T probably benign Het
Morf4l2 A G X: 135,634,464 (GRCm39) Y255H probably benign Het
Mri1 A G 8: 84,978,262 (GRCm39) V343A possibly damaging Het
Mybphl T A 3: 108,272,314 (GRCm39) M1K probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Ofd1 C A X: 165,175,512 (GRCm39) V951F probably damaging Het
Or4k51 G T 2: 111,584,772 (GRCm39) M59I possibly damaging Het
Or51r1 G T 7: 102,227,836 (GRCm39) V45F probably benign Het
Or6c208 T A 10: 129,224,108 (GRCm39) V202D possibly damaging Het
Parp12 G A 6: 39,079,581 (GRCm39) R310W probably damaging Het
Pcdh11x T A X: 119,425,935 (GRCm39) D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 (GRCm39) probably benign Het
Ptprz1 T A 6: 23,030,581 (GRCm39) probably benign Het
Qser1 T A 2: 104,617,344 (GRCm39) N1156I probably damaging Het
Rgs3 T A 4: 62,607,912 (GRCm39) D59E probably benign Het
Rims2 T C 15: 39,339,937 (GRCm39) F917S probably damaging Het
Sap30bp G A 11: 115,855,078 (GRCm39) V263M possibly damaging Het
Scart2 T A 7: 139,876,682 (GRCm39) V691E probably damaging Het
Scfd2 G T 5: 74,691,596 (GRCm39) H229N possibly damaging Het
Sspo T C 6: 48,436,349 (GRCm39) V1233A possibly damaging Het
Stam T A 2: 14,151,201 (GRCm39) Y519* probably null Het
Synj2 A G 17: 6,069,679 (GRCm39) T602A probably damaging Het
Tas2r126 C T 6: 42,412,391 (GRCm39) A308V probably benign Het
Tm4sf20 T C 1: 82,745,948 (GRCm39) probably benign Het
Ttc23 G A 7: 67,312,085 (GRCm39) probably benign Het
Vmn1r90 T C 7: 14,295,229 (GRCm39) I290V probably damaging Het
Xirp1 A C 9: 119,847,605 (GRCm39) L426W probably damaging Het
Zgrf1 T G 3: 127,392,423 (GRCm39) F430L possibly 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
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 2016-08-02