|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2362 (G1)|
|Chromosomal Location||148404466-148408188 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 148406364 bp|
|Amino Acid Change||Leucine to Proline at position 528 (L528P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096877 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099270]|
|Predicted Effect||probably damaging
AA Change: L528P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L528P
|Meta Mutation Damage Score||0.36|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants are growth retarded and die by embryonic day 9.5. Embryos develop further in vitro than in vivo suggesting maternal-fetal incompatibility. Endothelial cell-specific, conditional knockouts suffer fatal juvenile thromboses. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Thbd||
(F):5'- CTGGGTCTCTGGAGCAAATC -3'
(R):5'- ACCAGTGAATGTCGAAACTTCC -3'
(F):5'- GGAGCAAATCCCTCAGAACTTCTG -3'
(R):5'- GTGAATGTCGAAACTTCCCTGGC -3'