|Institutional Source||Beutler Lab|
|Gene Name||gamma-glutamyl carboxylase|
|Synonyms||vitamin K-dependent carboxylase|
|Essential gene?||Probably essential (E-score: 0.836)|
|Stock #||R5370 (G1)|
|Chromosomal Location||72414308-72430712 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 72425931 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 291 (S291P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070109 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065906] [ENSMUST00000205738]|
AA Change: S291P
PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: S291P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ggcx||
(F):5'- ACCTGATGCTTGTGCTCTGG -3'
(R):5'- AGAAGTGCTTCACTGTTCTTCC -3'
(F):5'- TGGGTGAGCCAGCTGAC -3'
(R):5'- AGACCCTCACTGTGCAGC -3'