|Institutional Source||Beutler Lab|
|Gene Name||thrombospondin 4|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3783 (G1)|
|Chromosomal Location||92751590-92794818 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 92773164 bp|
|Amino Acid Change||Asparagine to Serine at position 375 (N375S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022213 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022213]|
|Predicted Effect||probably benign
AA Change: N375S
PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: N375S
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0654|
|Coding Region Coverage||
|Validation Efficiency||98% (45/46)|
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 protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to cardiac pressure overload, including increased hypertrophy, decreased ejection fraction, decreased microvessle number, increased extracellular matrix deposition and increased fibrosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Thbs4||
(F):5'- TACTGCCTTCCCAGAGATACCC -3'
(R):5'- GAACGTTCCAAGTTATTTCCCC -3'
(F):5'- GGCATATGTCTTCAGAAAGGAGCC -3'
(R):5'- GTTCCAAGTTATTTCCCCCAAAGAG -3'