|Institutional Source||Beutler Lab|
|Gene Name||protein Z, vitamin K-dependent plasma glycoprotein|
|Essential gene?||Probably non essential (E-score: 0.079)|
|Stock #||R8676 (G1)|
|Chromosomal Location||13060914-13076026 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 13073630 bp (GRCm38)|
|Amino Acid Change||Serine to Arginine at position 300 (S300R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033822 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033822] [ENSMUST00000164416] [ENSMUST00000168164] [ENSMUST00000211363] [ENSMUST00000211453]|
AA Change: S300R
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S300R
|Coding Region Coverage||
|Validation Efficiency||93% (54/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: When unchallenged, mice homozygous for a knock-out allele do not express an obvious phenotype; however, homozygotes exhibit significantly reduced survival following collagen/epinephrine-induced thromboembolism and develop enhanced thrombosis in the ferric chloride-induced arterial injury model. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Proz||
(F):5'- TCATGATTTCAGATGTTGACCAGAGG -3'
(R):5'- AACCAGGTGCCCTTGTGTTC -3'
(F):5'- TTTCAGATGTTGACCAGAGGATCAG -3'
(R):5'- GTGTTCTCGGGTCACCACAC -3'