|Institutional Source||Beutler Lab|
|Gene Name||cartilage acidic protein 1|
|Synonyms||Lotus, Crtac1B, 2810454P21Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.458)|
|Stock #||R5936 (G1)|
|Chromosomal Location||42283037-42431783 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 42323837 bp|
|Amino Acid Change||Tyrosine to Histidine at position 146 (Y146H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044858 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048630]|
|Predicted Effect||probably damaging
AA Change: Y146H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y146H
|Coding Region Coverage||
|Validation Efficiency||91% (77/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in lateral olfactory tract morphology and axon fasciculation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Crtac1||
(F):5'- CCAGTTAAGCCACTTAGTATCTTGC -3'
(R):5'- TGGTGCCAGCTAGAGTCAAG -3'
(F):5'- TGGGACAACGGGAGCTACC -3'
(R):5'- GTGCCAGCTAGAGTCAAGTTCAC -3'