|Institutional Source||Beutler Lab|
|Gene Name||cartilage associated protein|
|Synonyms||5730529N23Rik, P3h5, CASP, Leprel3|
|Is this an essential gene?||Probably non essential (E-score: 0.115)|
|Stock #||R4781 (G1)|
|Chromosomal Location||114375134-114390675 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 114386236 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 195 (D195G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081941 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084881]|
|Predicted Effect||probably benign
AA Change: D195G
PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: D195G
|Meta Mutation Damage Score||0.0787|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes develop kyphoscoliosis and osteoporosis as a result of defects in bone formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crtap||
(F):5'- CAACATTCTTTAGATGTCAGCACAC -3'
(R):5'- CTCGTAACTGGAAATGTCATCTAAG -3'
(F):5'- GAGAACTACAAATTCTCCTCTGGCTG -3'
(R):5'- ATGAGACTGGCTCTATTCACGCATG -3'