|Institutional Source||Beutler Lab|
|Gene Name||cartilage intermediate layer protein, nucleotide pyrophosphohydrolase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5889 (G1)|
|Chromosomal Location||65265180-65280605 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 65280343 bp|
|Amino Acid Change||Alanine to Aspartic acid at position 1240 (A1240D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036631 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048762] [ENSMUST00000141382]|
|Predicted Effect||possibly damaging
AA Change: A1240D
PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: A1240D
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cilp||
(F):5'- TTGCTCAACAACCTCTGAGC -3'
(R):5'- GGACTGTGACAGAGACTTTGC -3'
(F):5'- ACCTCTGAGCAACTAAGTCTTGTGG -3'
(R):5'- ACATCTTGTGGAACATGGCC -3'