Incidental Mutation 'IGL03365:Adipor1'
ID420055
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adipor1
Ensembl Gene ENSMUSG00000026457
Gene Nameadiponectin receptor 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03365
Quality Score
Status
Chromosome1
Chromosomal Location134415378-134433351 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134431642 bp
ZygosityHeterozygous
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]
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: 24,997,811 probably benign Het
5830411N06Rik T A 7: 140,296,769 V691E probably damaging Het
Adam6a T A 12: 113,544,145 I46N possibly damaging Het
Akr1c21 C T 13: 4,583,852 P307S probably benign Het
Asxl1 T A 2: 153,401,754 I1408N probably damaging Het
Avil T C 10: 127,010,983 V472A probably damaging Het
Bpifa6 C A 2: 153,989,284 Q257K possibly damaging Het
Cacna2d4 G T 6: 119,271,264 V380L probably benign Het
Clip1 A C 5: 123,583,586 S1111A probably damaging Het
Dennd4c A G 4: 86,807,426 probably null Het
Dock8 C T 19: 25,099,684 P506L possibly damaging Het
Ecsit A C 9: 22,076,526 H72Q probably damaging Het
Eif1b T A 9: 120,494,120 D15E probably benign Het
Enpp1 A G 10: 24,669,025 Y319H probably damaging Het
Fam126a A T 5: 23,983,160 Y245N probably benign Het
Fat3 T C 9: 15,996,469 N2746D probably damaging Het
Fgf20 G T 8: 40,279,891 L115I possibly damaging Het
Hip1r C T 5: 124,000,167 R775W probably damaging Het
Lrp12 A T 15: 39,872,521 S672T probably benign Het
Morf4l2 A G X: 136,733,715 Y255H probably benign Het
Mri1 A G 8: 84,251,633 V343A possibly damaging Het
Mybphl T A 3: 108,364,998 M1K probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Ofd1 C A X: 166,392,516 V951F probably damaging Het
Olfr1301 G T 2: 111,754,427 M59I possibly damaging Het
Olfr550 G T 7: 102,578,629 V45F probably benign Het
Olfr784 T A 10: 129,388,239 V202D possibly damaging Het
Parp12 G A 6: 39,102,647 R310W probably damaging Het
Pcdh11x T A X: 120,516,238 D1019E probably benign Het
Ppp1r9a T A 6: 5,110,993 probably benign Het
Ptprz1 T A 6: 23,030,582 probably benign Het
Qser1 T A 2: 104,786,999 N1156I probably damaging Het
Rgs3 T A 4: 62,689,675 D59E probably benign Het
Rims2 T C 15: 39,476,541 F917S probably damaging Het
Sap30bp G A 11: 115,964,252 V263M possibly damaging Het
Scfd2 G T 5: 74,530,935 H229N possibly damaging Het
Sspo T C 6: 48,459,415 V1233A possibly damaging Het
Stam T A 2: 14,146,390 Y519* probably null Het
Svs1 A G 6: 48,988,597 D513G probably damaging Het
Synj2 A G 17: 6,019,404 T602A probably damaging Het
Tas2r126 C T 6: 42,435,457 A308V probably benign Het
Tm4sf20 T C 1: 82,768,227 probably benign Het
Ttc23 G A 7: 67,662,337 probably benign Het
Vmn1r90 T C 7: 14,561,304 I290V probably damaging Het
Xirp1 A C 9: 120,018,539 L426W probably damaging Het
Zgrf1 T G 3: 127,598,774 F430L possibly damaging Het
Other mutations in Adipor1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Adipor1 APN 1 134431185 missense probably benign 0.07
IGL02186:Adipor1 APN 1 134425960 missense probably benign 0.02
R0898:Adipor1 UTSW 1 134424076 critical splice donor site probably null
R1625:Adipor1 UTSW 1 134424064 missense possibly damaging 0.88
R1938:Adipor1 UTSW 1 134423103 missense probably benign 0.03
R1956:Adipor1 UTSW 1 134423033 missense probably benign 0.00
R1957:Adipor1 UTSW 1 134423033 missense probably benign 0.00
R1958:Adipor1 UTSW 1 134423033 missense probably benign 0.00
R2921:Adipor1 UTSW 1 134425993 missense possibly damaging 0.90
R4666:Adipor1 UTSW 1 134424905 missense probably damaging 1.00
R5560:Adipor1 UTSW 1 134426040 missense possibly damaging 0.69
R5795:Adipor1 UTSW 1 134424903 missense probably damaging 1.00
Posted On2016-08-02