|Institutional Source||Beutler Lab|
|Gene Name||stabilin 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7043 (G1)|
|Chromosomal Location||86841198-87008025 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 86870246 bp|
|Amino Acid Change||Asparagine to Serine at position 1750 (N1750S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048309 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035288]|
|Predicted Effect||probably damaging
AA Change: N1750S
PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: N1750S
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit no gross abnormaities. Mice homozygous for one null allele display elevated serum hyaluronic acid levels and decreased metastasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stab2||
(F):5'- TGCAGTTGAGGACCTATTGTAG -3'
(R):5'- TTGAGTGAGAGTGGTCACCTC -3'
(F):5'- AACAAAGGTTCTTAGAGCTCTTTGGG -3'
(R):5'- TGAGAGTGGTCACCTCAGGAAG -3'