|Institutional Source||Beutler Lab|
|Gene Name||matrix Gla protein|
|Is this an essential gene?||Probably non essential (E-score: 0.213)|
|Stock #||R5434 (G1)|
|Chromosomal Location||136872435-136875823 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 136872774 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 62 (N62I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032342 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032342]|
|Predicted Effect||probably benign
AA Change: N62I
PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: N62I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. This protein also inhibits angiogenesis. Mice lacking a functional copy of this gene exhibit impaired differentiation of endothelial cells, reduced stature, and calcification and rupture of the vasculature leading to premature death. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit growth plate calcification leading to reduced stature, osteopenia, and fractures, and arterial calcification and rupture resulting in death by eight weeks of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mgp||
(F):5'- TTCAACCCGCAGAAGGAAGG -3'
(R):5'- GGGACCGAAAGAAAACTTCTACTTC -3'
(F):5'- ACATGCGTGTCTGTATACTTCAG -3'
(R):5'- CTGCTGTTCAGACATCTC -3'