Incidental Mutation 'IGL02540:Adipor2'
ID297682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adipor2
Ensembl Gene ENSMUSG00000030168
Gene Nameadiponectin receptor 2
Synonyms1110001I14Rik, D6Ucla1e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL02540
Quality Score
Status
Chromosome6
Chromosomal Location119353150-119417704 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 119359495 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 169 (R169L)
Ref Sequence ENSEMBL: ENSMUSP00000126138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032272] [ENSMUST00000169744] [ENSMUST00000187699]
Predicted Effect probably benign
Transcript: ENSMUST00000032272
AA Change: R169L

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032272
Gene: ENSMUSG00000030168
AA Change: R169L

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 benign
Transcript: ENSMUST00000169744
AA Change: R169L

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126138
Gene: ENSMUSG00000030168
AA Change: R169L

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 benign
Transcript: ENSMUST00000187699
SMART Domains Protein: ENSMUSP00000139703
Gene: ENSMUSG00000030168

DomainStartEndE-ValueType
low complexity region 52 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188851
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 A T 4: 58,805,534 probably benign Het
Arhgap1 C T 2: 91,670,239 T371I probably damaging Het
Brpf3 C T 17: 28,828,354 P1031S probably damaging Het
Cenpu A G 8: 46,578,319 H245R probably damaging Het
Dhx36 A G 3: 62,506,888 S18P probably benign Het
Dst A G 1: 34,135,204 T217A probably damaging Het
Entpd8 A G 2: 25,084,719 probably null Het
Fez1 A G 9: 36,850,399 R122G probably damaging Het
Heatr5b A T 17: 78,773,572 M1417K probably damaging Het
Higd1c T C 15: 100,365,366 probably benign Het
Icosl G A 10: 78,069,536 probably null Het
Il24 T C 1: 130,887,303 probably benign Het
Kank3 T A 17: 33,819,187 probably benign Het
Lrriq1 A G 10: 103,215,019 L624P probably benign Het
Mov10l1 C A 15: 89,018,211 T768K probably benign Het
Olfr259 A T 2: 87,108,042 L115Q probably damaging Het
Olfr304 T A 7: 86,386,178 T161S possibly damaging Het
Olfr995 A G 2: 85,438,915 M81T probably benign Het
Pkn2 A T 3: 142,809,704 F649I probably benign Het
Pld1 A G 3: 28,029,160 probably benign Het
Prrc2c G A 1: 162,723,137 S86L probably damaging Het
Rai1 G A 11: 60,186,924 A605T probably benign Het
Reln T A 5: 22,034,752 Q839L probably damaging Het
Rrp9 T C 9: 106,483,547 probably benign Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tmtc2 A T 10: 105,413,339 C178S probably benign Het
Vmn1r172 T A 7: 23,659,925 F78L probably benign Het
Zfpm1 A G 8: 122,332,120 S160G possibly damaging Het
Other mutations in Adipor2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Adipor2 APN 6 119370168 nonsense probably null
IGL01665:Adipor2 APN 6 119361926 missense probably benign 0.06
IGL01932:Adipor2 APN 6 119361864 missense probably damaging 1.00
IGL02111:Adipor2 APN 6 119370196 nonsense probably null
R0764:Adipor2 UTSW 6 119357254 missense probably benign 0.00
R1464:Adipor2 UTSW 6 119361843 missense probably damaging 1.00
R1464:Adipor2 UTSW 6 119361843 missense probably damaging 1.00
R4773:Adipor2 UTSW 6 119359086 missense probably benign 0.04
R5276:Adipor2 UTSW 6 119357221 missense probably damaging 0.98
R5791:Adipor2 UTSW 6 119361905 missense possibly damaging 0.91
R6765:Adipor2 UTSW 6 119357242 missense possibly damaging 0.51
R7269:Adipor2 UTSW 6 119370244 missense probably benign
R7477:Adipor2 UTSW 6 119361922 missense probably benign 0.33
Z1177:Adipor2 UTSW 6 119357322 missense possibly damaging 0.83
Posted On2015-04-16