Incidental Mutation 'IGL00639:Adipor2'
ID 12445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adipor2
Ensembl Gene ENSMUSG00000030168
Gene Name adiponectin receptor 2
Synonyms D6Ucla1e, 1110001I14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL00639
Quality Score
Status
Chromosome 6
Chromosomal Location 119330111-119394489 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 119347129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 51 (C51*)
Ref Sequence ENSEMBL: ENSMUSP00000139895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032272] [ENSMUST00000169744] [ENSMUST00000187699] [ENSMUST00000189710]
AlphaFold Q8BQS5
Predicted Effect probably null
Transcript: ENSMUST00000032272
AA Change: C51*
SMART Domains Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: C51*

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Blast:RING 81 138 3e-26 BLAST
Pfam:HlyIII 140 363 6.9e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000169744
AA Change: C51*
SMART Domains Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: C51*

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Blast:RING 81 138 3e-26 BLAST
Pfam:HlyIII 140 363 6.9e-75 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000187699
AA Change: C51*
SMART Domains Protein: ENSMUSP00000139703
Gene: ENSMUSG00000030168
AA Change: C51*

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188851
Predicted Effect probably null
Transcript: ENSMUST00000189710
AA Change: C51*
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display small testes and epididymis, degeneration of the seminiferous tubules, abnormal sperm maturation and abnormal thermogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atmin A G 8: 117,683,396 (GRCm39) D352G probably damaging Het
Cntln A G 4: 84,924,671 (GRCm39) E592G probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Il31ra A T 13: 112,686,093 (GRCm39) Y65* probably null Het
Megf8 T C 7: 25,043,109 (GRCm39) F1344L possibly damaging Het
Pcdh18 T C 3: 49,710,065 (GRCm39) I417V probably benign Het
Prpf4b A G 13: 35,083,156 (GRCm39) N844S possibly damaging Het
Stard13 T C 5: 150,965,704 (GRCm39) E917G probably damaging Het
Tex15 T C 8: 34,065,339 (GRCm39) S1590P probably benign Het
Thrap3 C T 4: 126,059,371 (GRCm39) G892S probably benign Het
Vrk1 T A 12: 106,022,175 (GRCm39) probably null Het
Zfp655 A G 5: 145,180,955 (GRCm39) Y271C probably damaging Het
Other mutations in Adipor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Adipor2 APN 6 119,338,887 (GRCm39) missense probably benign 0.06
IGL01932:Adipor2 APN 6 119,338,825 (GRCm39) missense probably damaging 1.00
IGL02111:Adipor2 APN 6 119,347,157 (GRCm39) nonsense probably null
IGL02540:Adipor2 APN 6 119,336,456 (GRCm39) missense probably benign 0.27
R0764:Adipor2 UTSW 6 119,334,215 (GRCm39) missense probably benign 0.00
R1464:Adipor2 UTSW 6 119,338,804 (GRCm39) missense probably damaging 1.00
R1464:Adipor2 UTSW 6 119,338,804 (GRCm39) missense probably damaging 1.00
R4773:Adipor2 UTSW 6 119,336,047 (GRCm39) missense probably benign 0.04
R5276:Adipor2 UTSW 6 119,334,182 (GRCm39) missense probably damaging 0.98
R5791:Adipor2 UTSW 6 119,338,866 (GRCm39) missense possibly damaging 0.91
R6765:Adipor2 UTSW 6 119,334,203 (GRCm39) missense possibly damaging 0.51
R7269:Adipor2 UTSW 6 119,347,205 (GRCm39) missense probably benign
R7477:Adipor2 UTSW 6 119,338,883 (GRCm39) missense probably benign 0.33
R8676:Adipor2 UTSW 6 119,340,447 (GRCm39) critical splice donor site probably benign
R9433:Adipor2 UTSW 6 119,336,486 (GRCm39) missense probably damaging 1.00
Z1177:Adipor2 UTSW 6 119,334,283 (GRCm39) missense possibly damaging 0.83
Posted On 2012-12-06