Thbs2 - SNV Details



 Gene Information 
Gene Name Thbs2
Old Gene Names for Thbs2 Thbs-2
Gene Description thrombospondin 2 [Source:MGI Symbol;Acc:MGI:98738]
MGI phenotype Mice homozygous for a knock-out allele display premature death, abnormal tails, marked structural and functional abnormalities in a variety of connective tissues including skin, tendon, bone, and blood vessels, accelerated wound healing, and enhanced susceptibility to experimental skin tumors.
Uniprot Name
CCDS Name
Gene GO
basement membrane; extracellular matrix; cell adhesion; protein binding; positive regulation of synapse assembly; heparin binding; extracellular region; calcium ion binding; negative regulation of angiogenesis
Homolog in other species THBS2
Omim http://omim.org/entry/188061
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
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)
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023885
Chromosome 17
Coordinate 14,679,914     (Assembly: GRCm38)    
Ref Base A
Codon Change gaT/gaA
Var Base T
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.68
T:V0.32
Amino Acid Position 592
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02061
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved