Adamts5 - SNV Details



 Gene Information 
Gene Name Adamts5
Old Gene Names for Adamts5 9530092o11rik , Ai481094
Gene Description a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) [Source:MGI Symbol;Acc:MGI:1346321]
MGI phenotype Mice homozygous for one null allele exhibit a significant reduction in cartilage degradation after induction of osteoarthritis whereas those homozygous for another show no affect.
Uniprot Name
CCDS Name
Gene GO
metallopeptidase activity; extracellular matrix; cytoplasm; proteinaceous extracellular matrix; zinc ion binding; protein binding; nucleus; defense response to bacterium; proteolysis; metalloendopeptidase activity
Homolog in other species ADAMTS5
Omim http://omim.org/entry/605007
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022894
Chromosome 16
Coordinate 85,877,945     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 38
Allele Frequency
T:R0.47
C:V0.53
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL03295
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved