|Institutional Source||Beutler Lab|
|Gene Name||adiponectin, C1Q and collagen domain containing|
|Synonyms||Acdc, adiponectin, GBP28, APN, adipo, Acrp30, apM1|
|Is this an essential gene?||Possibly non essential (E-score: 0.274)|
|Stock #||R2284 (G1)|
|Chromosomal Location||23146536-23158028 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to T at 23157487 bp|
|Amino Acid Change||Glutamine to Stop codon at position 213 (Q213*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023593 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023593] [ENSMUST00000171309]|
|Predicted Effect||probably null
AA Change: Q213*
AA Change: Q213*
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (32/32)|
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||
|Other mutations in Adipoq||
(F):5'- CAACATTCCGGGACTCTACTAC -3'
(R):5'- CACGTGTGGATAATACTCAGGAC -3'
(F):5'- ACTTCTCTTACCACATCACGGTG -3'
(R):5'- GTGGATAATACTCAGGACTCTCAAAC -3'