|Institutional Source||Beutler Lab|
|Gene Name||integrin binding sialoprotein|
|Synonyms||Bsp2, bone sialoprotein, BSP|
|Is this an essential gene?||Probably non essential (E-score: 0.096)|
|Stock #||R5417 (G1)|
|Chromosomal Location||104299171-104311469 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 104310469 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 291 (E291K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031246 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031246]|
|Predicted Effect||possibly damaging
AA Change: E291K
PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: E291K
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body weight/size, delayed long bone growth and mineralization with low bone turn over due to reduced osteoclast formation, delayed intramembranous ossification, progressive periodontal breakdown, and severe alveolar and mandibular bone loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ibsp||
(F):5'- AGACAGCTGTCCTTCTGAAC -3'
(R):5'- GCTGTAGCACCATTCCACAC -3'
(F):5'- CGGGTTTCAGCAGACAACC -3'
(R):5'- GCACCTTCCTGAGTTGAATTTTG -3'