|Institutional Source||Beutler Lab|
|Gene Name||thrombospondin 2|
|Synonyms||Thbs-2, Thrombospondin-2, TSP2|
|Is this an essential gene?||Probably non essential (E-score: 0.208)|
|Stock #||R6166 (G1)|
|Chromosomal Location||14665500-14694235 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 14680388 bp|
|Amino Acid Change||Arginine to Histidine at position 519 (R519H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128308 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000170872]|
|Predicted Effect||probably damaging
AA Change: R519H
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: R519H
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Thbs2||
(F):5'- AGTATGCATGCCCTGTCACC -3'
(R):5'- GTAAATCACAGTAGACCAGTCCTC -3'
(F):5'- TGCCCTGTCACCCATGGAAC -3'
(R):5'- GTGTCTTCAACTACACTGGAATAGCC -3'