Incidental Mutation 'IGL02686:Adipoq'
ID 303580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adipoq
Ensembl Gene ENSMUSG00000022878
Gene Name adiponectin, C1Q and collagen domain containing
Synonyms adiponectin, GBP28, Acdc, apM1, Acrp30, adipo, APN, Ad
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL02686
Quality Score
Status
Chromosome 16
Chromosomal Location 22965286-22976718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22975865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 110 (T110A)
Ref Sequence ENSEMBL: ENSMUSP00000126793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023593] [ENSMUST00000171309]
AlphaFold Q60994
Predicted Effect probably benign
Transcript: ENSMUST00000023593
AA Change: T89A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000023593
Gene: ENSMUSG00000022878
AA Change: T89A

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
internal_repeat_1 45 74 2.54e-5 PROSPERO
C1Q 109 245 2.81e-69 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171309
AA Change: T110A

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126793
Gene: ENSMUSG00000022878
AA Change: T110A

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
Pfam:Collagen 61 133 1.4e-11 PFAM
SCOP:d1gr3a_ 134 168 2e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit increased beta-oxidation in muscle and liver, impaired free fatty acid clearance, and moderate insulin resistance. Heterozygotes show mild insulin resistance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 C T 12: 81,468,448 (GRCm39) G58S possibly damaging Het
Adcyap1r1 G A 6: 55,458,110 (GRCm39) A304T probably benign Het
Ago2 T C 15: 72,985,591 (GRCm39) Y668C possibly damaging Het
Ampd2 A T 3: 107,983,811 (GRCm39) D575E possibly damaging Het
Anxa5 C T 3: 36,503,504 (GRCm39) E317K probably benign Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
Bicc1 C A 10: 70,779,190 (GRCm39) probably benign Het
Bicra A G 7: 15,721,840 (GRCm39) M559T probably benign Het
Bltp3a T C 17: 28,113,563 (GRCm39) I1245T probably benign Het
Bltp3b A T 10: 89,641,055 (GRCm39) Q742L probably benign Het
Cacna1e G A 1: 154,369,155 (GRCm39) A294V probably damaging Het
Cacna1h G A 17: 25,604,723 (GRCm39) P1197S possibly damaging Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cts8 T C 13: 61,398,784 (GRCm39) T241A probably benign Het
Cubn T C 2: 13,330,037 (GRCm39) I2615V possibly damaging Het
Cxcl12 A G 6: 117,150,546 (GRCm39) probably benign Het
Fig4 T C 10: 41,140,000 (GRCm39) D307G probably damaging Het
Flt1 T C 5: 147,525,412 (GRCm39) I909V probably damaging Het
Foxk1 T A 5: 142,439,340 (GRCm39) S427T probably damaging Het
Gosr1 G A 11: 76,641,688 (GRCm39) T130M probably benign Het
Grik1 G T 16: 87,806,649 (GRCm39) probably null Het
Hipk1 C T 3: 103,685,333 (GRCm39) S94N possibly damaging Het
Ints7 T C 1: 191,318,704 (GRCm39) L147P probably damaging Het
Nsd3 A G 8: 26,156,086 (GRCm39) D551G probably damaging Het
Or11g25 G A 14: 50,723,426 (GRCm39) M170I probably benign Het
Or5p81 A T 7: 108,267,093 (GRCm39) I157F probably benign Het
Prrc2c T C 1: 162,535,516 (GRCm39) probably benign Het
Ren1 A T 1: 133,286,207 (GRCm39) N250I possibly damaging Het
Ripply2 A C 9: 86,898,009 (GRCm39) probably benign Het
Ryr1 G T 7: 28,768,975 (GRCm39) probably benign Het
Smad3 T A 9: 63,575,064 (GRCm39) K51M probably damaging Het
Snapc1 C A 12: 74,011,370 (GRCm39) probably benign Het
Srfbp1 T G 18: 52,608,726 (GRCm39) V42G probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tab1 T C 15: 80,033,031 (GRCm39) V105A probably benign Het
Tat T C 8: 110,723,481 (GRCm39) V323A probably damaging Het
Tdo2 T C 3: 81,875,462 (GRCm39) N164S probably benign Het
Tefm T A 11: 80,027,722 (GRCm39) L345F probably damaging Het
Tmem145 C A 7: 25,014,150 (GRCm39) N407K probably damaging Het
Vmn2r116 A G 17: 23,607,767 (GRCm39) N445S probably damaging Het
Vmn2r20 A G 6: 123,362,585 (GRCm39) M733T probably benign Het
Vmn2r93 G A 17: 18,533,526 (GRCm39) V477M possibly damaging Het
Zdhhc4 A G 5: 143,306,146 (GRCm39) F194S probably damaging Het
Zfp738 A T 13: 67,821,771 (GRCm39) S25T probably damaging Het
Other mutations in Adipoq
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0196:Adipoq UTSW 16 22,965,393 (GRCm39) splice site probably null
R0617:Adipoq UTSW 16 22,974,160 (GRCm39) missense probably damaging 1.00
R1773:Adipoq UTSW 16 22,973,988 (GRCm39) missense unknown
R2284:Adipoq UTSW 16 22,976,237 (GRCm39) nonsense probably null
R2367:Adipoq UTSW 16 22,974,069 (GRCm39) missense probably benign 0.05
R3767:Adipoq UTSW 16 22,975,938 (GRCm39) missense possibly damaging 0.83
R7670:Adipoq UTSW 16 22,976,332 (GRCm39) missense probably damaging 0.99
R8557:Adipoq UTSW 16 22,965,430 (GRCm39) intron probably benign
R9434:Adipoq UTSW 16 22,965,697 (GRCm39) intron probably benign
X0026:Adipoq UTSW 16 22,974,034 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16