|Institutional Source||Beutler Lab|
|Gene Name||coagulation factor II (thrombin) receptor-like 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5635 (G1)|
|Chromosomal Location||95696853-95702739 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 95700782 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 112 (I112F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022182 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022182] [ENSMUST00000068603]|
|PDB Structure||Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR3 [X-RAY DIFFRACTION]|
|Predicted Effect||possibly damaging
AA Change: I112F
PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: I112F
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||99% (90/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in prolonged bleeding times, delayed and reduced thrombin responses in platelets, and protection against thrombosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in F2rl2||
(F):5'- GGGGTCCCCAAAATACCTTTGAAG -3'
(R):5'- GCCGTAGAAAACAACCGTGG -3'
(F):5'- CACTTTCTGACATAGAGGGCTGGAC -3'
(R):5'- AACAACCGTGGTGATCCG -3'