Incidental Mutation 'R0014:F2rl2'
Institutional Source Beutler Lab
Gene Symbol F2rl2
Ensembl Gene ENSMUSG00000021675
Gene Namecoagulation factor II (thrombin) receptor-like 2
MMRRC Submission 038309-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0014 (G1)
Quality Score
Status Validated
Chromosomal Location95696853-95702739 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 95700909 bp
Amino Acid Change Asparagine to Isoleucine at position 154 (N154I)
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 probably damaging
Transcript: ENSMUST00000022182
AA Change: N154I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: N154I

signal peptide 1 19 N/A INTRINSIC
Pfam:7tm_1 110 295 1.7e-32 PFAM
Pfam:7tm_1 297 357 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068603
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676

CH 43 152 3.32e-16 SMART
coiled coil region 253 276 N/A INTRINSIC
low complexity region 469 480 N/A INTRINSIC
IQ 689 711 1.38e-4 SMART
IQ 719 741 7.36e0 SMART
IQ 749 771 2.43e1 SMART
coiled coil region 799 828 N/A INTRINSIC
RasGAP 905 1258 2.6e-120 SMART
Pfam:RasGAP_C 1367 1498 3.2e-40 PFAM
Meta Mutation Damage Score 0.1939 question?
Coding Region Coverage
  • 1x: 75.1%
  • 3x: 61.1%
  • 10x: 30.7%
  • 20x: 14.1%
Validation Efficiency 90% (62/69)
MGI Phenotype 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
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130409I23Rik T C 1: 181,055,131 F153L possibly damaging Het
Adam17 C T 12: 21,336,644 E445K probably benign Het
Als2 A G 1: 59,211,388 V399A possibly damaging Het
Ankrd52 C A 10: 128,386,452 T583K probably benign Het
Ccr5 T C 9: 124,124,621 F87S probably damaging Het
Clcc1 T A 3: 108,661,396 C10* probably null Het
Cngb3 T C 4: 19,396,685 I346T probably benign Het
Dmbx1 G T 4: 115,918,024 T358K probably damaging Het
Dpyd T C 3: 119,141,935 S670P probably damaging Het
Epc2 A T 2: 49,522,525 K172* probably null Het
Exog T C 9: 119,452,278 I218T probably damaging Het
Fbxo30 T A 10: 11,289,859 Y108* probably null Het
Fhad1 A T 4: 141,928,408 L795Q probably damaging Het
Fyttd1 G A 16: 32,905,554 R175Q probably damaging Het
Gbp5 T A 3: 142,506,735 C395S probably damaging Het
Gen1 T C 12: 11,241,641 N716D probably benign Het
Gucy1b1 T C 3: 82,039,861 D347G probably damaging Het
Helz2 A G 2: 181,240,511 L163P probably damaging Het
Hmox2 T A 16: 4,765,033 L210Q probably damaging Het
Khdrbs3 A G 15: 69,024,835 T115A probably benign Het
Lrrk2 T C 15: 91,802,045 probably benign Het
Ncoa6 A C 2: 155,438,043 S18A possibly damaging Het
Neb G A 2: 52,287,156 A1391V probably damaging Het
Nek6 T C 2: 38,558,844 probably benign Het
Pclo C T 5: 14,680,451 probably benign Het
Pex1 G A 5: 3,626,141 probably benign Het
Pi4kb T G 3: 94,998,897 I612S probably damaging Het
Pitx2 T G 3: 129,218,499 S193A possibly damaging Het
Psma8 A G 18: 14,726,530 I86V possibly damaging Het
Slc7a2 T C 8: 40,911,028 L426P probably damaging Het
Tut1 T A 19: 8,962,447 L265Q possibly damaging Het
Wdr63 T C 3: 146,081,423 probably null Het
Zfp458 A G 13: 67,258,090 V95A possibly damaging Het
Other mutations in F2rl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:F2rl2 APN 13 95701328 missense probably benign 0.00
R0014:F2rl2 UTSW 13 95700909 missense probably damaging 0.99
R0969:F2rl2 UTSW 13 95700953 missense probably damaging 1.00
R1183:F2rl2 UTSW 13 95701113 missense probably damaging 0.96
R1482:F2rl2 UTSW 13 95701539 missense probably benign 0.02
R1753:F2rl2 UTSW 13 95701461 missense probably benign 0.16
R2428:F2rl2 UTSW 13 95697077 missense possibly damaging 0.75
R3151:F2rl2 UTSW 13 95701130 missense probably benign 0.00
R4678:F2rl2 UTSW 13 95700632 missense probably benign 0.10
R5153:F2rl2 UTSW 13 95697112 missense probably benign 0.00
R5229:F2rl2 UTSW 13 95700687 missense possibly damaging 0.93
R5635:F2rl2 UTSW 13 95700782 missense possibly damaging 0.88
R6041:F2rl2 UTSW 13 95701109 missense probably benign 0.01
R6146:F2rl2 UTSW 13 95700641 missense probably benign 0.08
R6974:F2rl2 UTSW 13 95700530 missense probably damaging 0.97
R6993:F2rl2 UTSW 13 95701134 missense probably damaging 1.00
Posted On2012-11-20