Incidental Mutation 'R3123:F2rl3'
ID 264155
Institutional Source Beutler Lab
Gene Symbol F2rl3
Ensembl Gene ENSMUSG00000050147
Gene Name F2R like thrombin or trypsin receptor 3
Synonyms PAR4
MMRRC Submission 040596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3123 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73488508-73490502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73489840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 356 (S356P)
Ref Sequence ENSEMBL: ENSMUSP00000054426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058099]
AlphaFold O88634
PDB Structure Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR4 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000058099
AA Change: S356P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054426
Gene: ENSMUSG00000050147
AA Change: S356P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PDB:2PV9|C 51 76 5e-12 PDB
Pfam:7TM_GPCR_Srsx 100 367 4.1e-8 PFAM
Pfam:7tm_1 106 352 7.6e-37 PFAM
low complexity region 369 387 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213063
Meta Mutation Damage Score 0.5280 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: This gene encodes a member of the protease-activated receptor subfamily, part of the G-protein coupled receptor 1 family of proteins. The encoded receptor is proteolytically processed to reveal an extracellular N-terminal tethered ligand that binds to and activates the receptor. This receptor plays a role in blood coagulation, inflammation and response to pain. Mice lacking a functional copy of this gene exhibit impaired platelet activation and prolonged bleeding times. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene results in prolonged bleeding time and protection against thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,234,576 (GRCm39) I646V possibly damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Csn1s2b T C 5: 87,966,917 (GRCm39) probably benign Het
Ctsa T A 2: 164,677,152 (GRCm39) probably null Het
Cyp2j8 G A 4: 96,389,450 (GRCm39) probably benign Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Dhx9 T C 1: 153,341,452 (GRCm39) K599E possibly damaging Het
Duox2 A G 2: 122,111,554 (GRCm39) probably benign Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Gpr75 T A 11: 30,841,709 (GRCm39) S205T possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Htt T C 5: 34,961,875 (GRCm39) S287P probably benign Het
Ifi27l2b T C 12: 103,417,594 (GRCm39) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Lonp1 A G 17: 56,933,488 (GRCm39) I129T possibly damaging Het
Macc1 T C 12: 119,411,368 (GRCm39) F712S probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Or10ag53 A T 2: 87,083,135 (GRCm39) T285S possibly damaging Het
Or2l13 A G 16: 19,305,765 (GRCm39) Y59C probably damaging Het
Or2y3 G A 17: 38,392,903 (GRCm39) probably null Het
Pkd1l1 T A 11: 8,923,021 (GRCm39) D82V unknown Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Ppwd1 C T 13: 104,350,198 (GRCm39) E396K possibly damaging Het
Prr30 A G 14: 101,436,425 (GRCm39) S46P probably benign Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ptpn4 A G 1: 119,693,153 (GRCm39) probably null Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Rbm27 A G 18: 42,460,230 (GRCm39) E764G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Taf15 G A 11: 83,395,154 (GRCm39) probably null Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tgfbr2 G A 9: 115,939,137 (GRCm39) T230M possibly damaging Het
Tnpo1 GCACCTCTGCTTCCTC GCACCTCTGCTTCCTCACCTCTGCTTCCTC 13: 99,003,637 (GRCm39) probably null Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Upf1 A G 8: 70,790,133 (GRCm39) probably benign Het
Vmn2r109 C T 17: 20,761,248 (GRCm39) C703Y probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Zfp777 A G 6: 48,006,050 (GRCm39) probably benign Het
Other mutations in F2rl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0276:F2rl3 UTSW 8 73,489,426 (GRCm39) missense probably benign
R0748:F2rl3 UTSW 8 73,489,379 (GRCm39) missense probably benign 0.00
R1640:F2rl3 UTSW 8 73,489,534 (GRCm39) missense probably benign 0.13
R4546:F2rl3 UTSW 8 73,489,211 (GRCm39) missense probably benign
R4718:F2rl3 UTSW 8 73,489,536 (GRCm39) missense possibly damaging 0.61
R5000:F2rl3 UTSW 8 73,489,307 (GRCm39) missense probably damaging 1.00
R6150:F2rl3 UTSW 8 73,489,366 (GRCm39) missense probably benign 0.01
R6195:F2rl3 UTSW 8 73,489,513 (GRCm39) missense probably benign
R6233:F2rl3 UTSW 8 73,489,513 (GRCm39) missense probably benign
R7963:F2rl3 UTSW 8 73,489,333 (GRCm39) missense probably damaging 1.00
R8422:F2rl3 UTSW 8 73,489,813 (GRCm39) missense probably benign 0.24
R8447:F2rl3 UTSW 8 73,489,963 (GRCm39) makesense probably null
R9679:F2rl3 UTSW 8 73,489,661 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCATGCTGTGTCATGATGCG -3'
(R):5'- GAGACCCAGTCAAGCCAGAATG -3'

Sequencing Primer
(F):5'- GACTGACAGCCCTGGTACTGTTC -3'
(R):5'- GCCAGAATGCCCCCTTC -3'
Posted On 2015-02-05