|Institutional Source||Beutler Lab|
|Gene Name||chordin-like 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.386)|
|Stock #||R7870 (G1)|
|Chromosomal Location||100006172-100034728 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100010042 bp|
|Amino Acid Change||Leucine to Proline at position 9 (L9P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000102699 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032977] [ENSMUST00000107084]|
|Predicted Effect||probably benign
AA Change: L9P
AA Change: L9P
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Chrdl2||
(F):5'- TCTCTAGGCACGAGCTTCTG -3'
(R):5'- GGAATCAGGACCTGTCAGAG -3'
(F):5'- TCCCACCAGTAGAGGTCTCTG -3'
(R):5'- TCAGGACCTGTCAGAGATCCCTG -3'