|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor II (thrombin) receptor|
|Synonyms||ThrR, Par1, thrombin receptor, Cf2r|
|Is this an essential gene?||Possibly non essential (E-score: 0.448)|
|Stock #||R2085 (G1)|
|Chromosomal Location||95601803-95618487 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95604910 bp|
|Amino Acid Change||Asparagine to Serine at position 39 (N39S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061754 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059193]|
|Predicted Effect||probably benign
AA Change: N39S
PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: N39S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Targeted mutations of this locus result in increased midgestational lethality, with up to ~50% of mutants surviving to adulthood. Gene deficiency does not affect thrombin signaling in mouse platelets but markedly attenuates thrombin signaling in mouse microvascular endothelial cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in F2r||
(F):5'- AGGCTGACAATGAACACAATCG -3'
(R):5'- CGTATTCGCTAACCAAGTCCTTAG -3'
(F):5'- AGGGGCTGGTCAGATATCC -3'
(R):5'- CATCACTCACGGTCTCAA -3'