|Institutional Source||Beutler Lab|
|Gene Name||cartilage oligomeric matrix protein|
|Is this an essential gene?||Possibly non essential (E-score: 0.354)|
|Stock #||R7309 (G1)|
|Chromosomal Location||70373558-70382066 bp(+) (GRCm38)|
|Type of Mutation||intron (31 bp from exon)|
|DNA Base Change (assembly)||A to T at 70373678 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000003659 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003659]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||94% (47/50)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation are indistinguishable from controls. Mice homozygous for a knockin allele with two point mutations exhibit short limb dwarfism, osteoarthritis, abnormal chondrocytes, mild myopathy, and abnormal tendon morphology and stiffness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Comp||
(F):5'- TATACTGATCAGCTGCGGGTC -3'
(R):5'- AGTTCTCGCAGCATCTGTG -3'
(F):5'- AGAGCCCGGCCTGTTTAC -3'
(R):5'- ATCTGTGGGGCCAGGTCTC -3'