|Institutional Source||Beutler Lab|
|Gene Name||SPARC related modular calcium binding 2|
|Synonyms||Smoc2l, 5430426J21Rik, 1700056C05Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2291 (G1)|
|Chromosomal Location||14279506-14404790 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 14368971 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 234 (N234I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024660 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024660]|
|Predicted Effect||possibly damaging
AA Change: N234I
PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N234I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for one KO allele exhibit protection from induced kidney fibrosis and reduced interstitial myofibroblast accumulation. Another KO allele leads to shortening and widening of the skull. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Smoc2||
(F):5'- CCTGGTTCTCACTGTAGTGC -3'
(R):5'- GCTGAGCCCATAGAAAGAATCTTG -3'
(F):5'- CTCACTGTAGTGCTAGGACAG -3'
(R):5'- GCAGGTTCCACTTTGCTGGC -3'