Incidental Mutation 'R1753:F2rl2'
ID 193777
Institutional Source Beutler Lab
Gene Symbol F2rl2
Ensembl Gene ENSMUSG00000021675
Gene Name coagulation factor II (thrombin) receptor-like 2
Synonyms PAR3
MMRRC Submission 039785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1753 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 95696853-95702739 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95701461 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 338 (M338K)
Ref Sequence ENSEMBL: ENSMUSP00000022182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022182] [ENSMUST00000068603]
AlphaFold O08675
PDB Structure Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR3 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000022182
AA Change: M338K

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: M338K

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,973,716 (GRCm38) F409I probably benign Het
Adamts19 A C 18: 59,007,372 (GRCm38) I848L possibly damaging Het
Adamts5 T C 16: 85,899,352 (GRCm38) S306G probably damaging Het
Adamts8 T G 9: 30,954,614 (GRCm38) I486S probably benign Het
Adgrg5 T C 8: 94,942,052 (GRCm38) F499L possibly damaging Het
Akr1c21 T A 13: 4,577,135 (GRCm38) C145* probably null Het
Anp32b T G 4: 46,460,241 (GRCm38) probably null Het
Arhgap31 A G 16: 38,601,612 (GRCm38) V1364A possibly damaging Het
C2cd6 T C 1: 59,094,833 (GRCm38) R10G possibly damaging Het
Cacna2d1 A G 5: 16,302,354 (GRCm38) E367G possibly damaging Het
Ccdc81 C T 7: 89,866,561 (GRCm38) E637K probably benign Het
Cd2 A T 3: 101,287,499 (GRCm38) M91K possibly damaging Het
Cdc16 C A 8: 13,764,688 (GRCm38) Y157* probably null Het
Celsr3 G T 9: 108,831,857 (GRCm38) V1301F probably damaging Het
Cep164 C T 9: 45,792,937 (GRCm38) G961S probably damaging Het
Cep290 T C 10: 100,513,981 (GRCm38) V630A probably benign Het
Chd5 C T 4: 152,378,815 (GRCm38) S1451F probably damaging Het
Cldn23 A C 8: 35,825,986 (GRCm38) L116R possibly damaging Het
Cngb1 A T 8: 95,297,773 (GRCm38) probably benign Het
Cpb1 G T 3: 20,266,241 (GRCm38) N151K possibly damaging Het
Cpn2 A G 16: 30,260,100 (GRCm38) F261S probably damaging Het
Crlf3 A C 11: 80,057,872 (GRCm38) V249G probably damaging Het
Csmd1 A T 8: 16,157,120 (GRCm38) Y1298* probably null Het
Cstf2t C A 19: 31,083,685 (GRCm38) P207Q possibly damaging Het
Cym A C 3: 107,213,425 (GRCm38) L288R possibly damaging Het
Cyp2j12 C T 4: 96,121,432 (GRCm38) probably null Het
Dlx6 C T 6: 6,863,665 (GRCm38) Q96* probably null Het
Dnah7b T C 1: 46,322,335 (GRCm38) F3465S probably damaging Het
Dnmt3a A T 12: 3,873,342 (GRCm38) M181L possibly damaging Het
Duox1 T A 2: 122,333,429 (GRCm38) M859K probably damaging Het
Eif2b4 A T 5: 31,192,940 (GRCm38) S13T probably benign Het
Ercc6 T C 14: 32,576,999 (GRCm38) V1448A probably benign Het
Esp24 A G 17: 39,040,002 (GRCm38) E31G possibly damaging Het
Fbxl9 A T 8: 105,313,192 (GRCm38) V517E probably damaging Het
Fgfbp1 A C 5: 43,979,923 (GRCm38) L9R possibly damaging Het
Gal3st2b A T 1: 93,940,616 (GRCm38) N188Y probably damaging Het
Gpr179 G C 11: 97,346,578 (GRCm38) C372W probably damaging Het
Grn T G 11: 102,433,267 (GRCm38) C61G probably damaging Het
Herc1 T G 9: 66,469,010 (GRCm38) C3371G probably damaging Het
Herc1 T C 9: 66,502,084 (GRCm38) probably null Het
Hmcn1 C T 1: 150,586,468 (GRCm38) G5153D possibly damaging Het
Ifi35 A T 11: 101,456,635 (GRCm38) R31W probably damaging Het
Ifit1bl1 T A 19: 34,593,860 (GRCm38) H399L probably benign Het
Irx3 G A 8: 91,800,734 (GRCm38) P114L probably damaging Het
Kat6a T A 8: 22,935,797 (GRCm38) D1119E probably benign Het
Kmt2d G T 15: 98,843,482 (GRCm38) probably benign Het
Kng1 A T 16: 23,079,119 (GRCm38) H423L possibly damaging Het
Lrp2 T A 2: 69,496,489 (GRCm38) Q1746L possibly damaging Het
Lrrc63 A T 14: 75,086,344 (GRCm38) probably null Het
Mad2l1 T A 6: 66,539,813 (GRCm38) V163E possibly damaging Het
Map3k19 A G 1: 127,822,680 (GRCm38) M978T probably benign Het
Mon1a A C 9: 107,901,363 (GRCm38) N262T probably damaging Het
Mpo A G 11: 87,795,881 (GRCm38) N85D probably benign Het
Mpp4 T C 1: 59,144,810 (GRCm38) D244G probably null Het
Mstn A G 1: 53,066,558 (GRCm38) Y353C probably damaging Het
Mx1 T A 16: 97,454,158 (GRCm38) N232Y probably damaging Het
Mycs T C X: 5,468,103 (GRCm38) R308G probably benign Het
Myh11 A T 16: 14,277,870 (GRCm38) D9E probably benign Het
Nfe2l3 A T 6: 51,433,412 (GRCm38) Q169L probably null Het
Nr5a1 G T 2: 38,708,419 (GRCm38) T122N possibly damaging Het
Nras A G 3: 103,058,979 (GRCm38) T20A probably damaging Het
Obp2b T A 2: 25,738,640 (GRCm38) probably null Het
Or1l4 A G 2: 37,201,427 (GRCm38) Y62C probably damaging Het
Or51g2 T C 7: 102,973,056 (GRCm38) N312S probably benign Het
Or5aq6 T C 2: 87,093,227 (GRCm38) T57A probably damaging Het
Or5w18 T A 2: 87,802,762 (GRCm38) F124L probably benign Het
Or9s14 G A 1: 92,608,400 (GRCm38) V188M probably benign Het
Pcdh17 A T 14: 84,477,654 (GRCm38) T920S probably benign Het
Pcdh9 T C 14: 93,887,225 (GRCm38) D503G probably benign Het
Pcdhb12 C T 18: 37,436,671 (GRCm38) T290I probably damaging Het
Pde6b C A 5: 108,388,691 (GRCm38) C84* probably null Het
Pex1 A T 5: 3,630,044 (GRCm38) N914I probably damaging Het
Pign A G 1: 105,589,317 (GRCm38) V528A possibly damaging Het
Pkhd1 T G 1: 20,533,905 (GRCm38) D1187A possibly damaging Het
Ppip5k1 T C 2: 121,342,631 (GRCm38) K489E probably damaging Het
Prob1 T C 18: 35,653,252 (GRCm38) T650A possibly damaging Het
Radil T C 5: 142,495,336 (GRCm38) Y572C probably damaging Het
Rapgef2 A G 3: 79,088,791 (GRCm38) I555T possibly damaging Het
Rgs5 G A 1: 169,682,817 (GRCm38) probably null Het
Rnaset2b G A 17: 6,981,107 (GRCm38) probably null Het
S1pr1 A G 3: 115,711,938 (GRCm38) S336P probably benign Het
Slc24a5 A G 2: 125,083,195 (GRCm38) E252G possibly damaging Het
Slc34a2 A T 5: 53,061,391 (GRCm38) I184F probably benign Het
Slc35a3 A G 3: 116,677,948 (GRCm38) V224A possibly damaging Het
Slc39a9 A G 12: 80,677,202 (GRCm38) H211R probably damaging Het
Slu7 A G 11: 43,439,268 (GRCm38) N174S probably benign Het
Smarcd3 A T 5: 24,595,822 (GRCm38) Y131* probably null Het
Syne1 A G 10: 5,367,621 (GRCm38) M491T probably benign Het
Tars1 G A 15: 11,394,243 (GRCm38) Q103* probably null Het
Tmem132d C A 5: 127,789,855 (GRCm38) E660D probably benign Het
Ttn T C 2: 76,812,972 (GRCm38) E13201G probably damaging Het
Ttn T A 2: 76,752,261 (GRCm38) M22763L probably benign Het
Ttn T C 2: 76,745,043 (GRCm38) T16842A probably damaging Het
Ubp1 A T 9: 113,955,969 (GRCm38) I117L possibly damaging Het
Usp24 T A 4: 106,377,559 (GRCm38) H954Q probably benign Het
Vmn1r174 G A 7: 23,754,197 (GRCm38) R96H probably benign Het
Vmn2r63 G A 7: 42,928,245 (GRCm38) Q290* probably null Het
Vnn3 T C 10: 23,865,820 (GRCm38) I341T probably benign Het
Wbp2nl A G 15: 82,305,744 (GRCm38) T46A probably damaging Het
Wdr48 G T 9: 119,924,247 (GRCm38) E625* probably null Het
Wdr6 C T 9: 108,575,164 (GRCm38) V507I probably damaging Het
Zp2 A T 7: 120,138,105 (GRCm38) W287R probably benign Het
Other mutations in F2rl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:F2rl2 APN 13 95,701,328 (GRCm38) missense probably benign 0.00
R0014:F2rl2 UTSW 13 95,700,909 (GRCm38) missense probably damaging 0.99
R0014:F2rl2 UTSW 13 95,700,909 (GRCm38) missense probably damaging 0.99
R0969:F2rl2 UTSW 13 95,700,953 (GRCm38) missense probably damaging 1.00
R1183:F2rl2 UTSW 13 95,701,113 (GRCm38) missense probably damaging 0.96
R1482:F2rl2 UTSW 13 95,701,539 (GRCm38) missense probably benign 0.02
R2428:F2rl2 UTSW 13 95,697,077 (GRCm38) missense possibly damaging 0.75
R3151:F2rl2 UTSW 13 95,701,130 (GRCm38) missense probably benign 0.00
R4678:F2rl2 UTSW 13 95,700,632 (GRCm38) missense probably benign 0.10
R5153:F2rl2 UTSW 13 95,697,112 (GRCm38) missense probably benign 0.00
R5229:F2rl2 UTSW 13 95,700,687 (GRCm38) missense possibly damaging 0.93
R5635:F2rl2 UTSW 13 95,700,782 (GRCm38) missense possibly damaging 0.88
R6041:F2rl2 UTSW 13 95,701,109 (GRCm38) missense probably benign 0.01
R6146:F2rl2 UTSW 13 95,700,641 (GRCm38) missense probably benign 0.08
R6974:F2rl2 UTSW 13 95,700,530 (GRCm38) missense probably damaging 0.97
R6993:F2rl2 UTSW 13 95,701,134 (GRCm38) missense probably damaging 1.00
R7833:F2rl2 UTSW 13 95,700,918 (GRCm38) missense probably damaging 0.96
R7869:F2rl2 UTSW 13 95,701,011 (GRCm38) missense probably damaging 0.99
R8187:F2rl2 UTSW 13 95,701,403 (GRCm38) missense probably benign 0.00
R8694:F2rl2 UTSW 13 95,700,831 (GRCm38) missense probably benign 0.00
R9445:F2rl2 UTSW 13 95,701,114 (GRCm38) missense probably benign 0.28
R9694:F2rl2 UTSW 13 95,701,542 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23