Incidental Mutation 'R4546:F2rl3'
ID 333778
Institutional Source Beutler Lab
Gene Symbol F2rl3
Ensembl Gene ENSMUSG00000050147
Gene Name F2R like thrombin or trypsin receptor 3
Synonyms PAR4
MMRRC Submission 041780-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4546 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 73488508-73490502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73489211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 146 (A146V)
Ref Sequence ENSEMBL: ENSMUSP00000054426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004494] [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 benign
Transcript: ENSMUST00000004494
SMART Domains Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:PAH 53 97 2.5e-19 PFAM
Pfam:PAH 173 227 4.4e-20 PFAM
Pfam:PAH 313 357 1.6e-8 PFAM
HDAC_interact 384 484 2.75e-58 SMART
low complexity region 667 688 N/A INTRINSIC
Pfam:Sin3a_C 712 1011 7.2e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058099
AA Change: A146V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054426
Gene: ENSMUSG00000050147
AA Change: A146V

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 0.1121 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (65/67)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G A 14: 70,393,927 (GRCm39) S236L probably benign Het
Ahcyl C T 16: 45,974,330 (GRCm39) C349Y possibly damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Alpi T A 1: 87,026,839 (GRCm39) Y413F probably damaging Het
Asmt T C X: 169,110,230 (GRCm39) probably null Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
Bnc2 A G 4: 84,210,213 (GRCm39) F744L probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Cdk13 T C 13: 17,941,159 (GRCm39) K21R probably damaging Het
Cenpf A C 1: 189,386,847 (GRCm39) L1811R probably damaging Het
Cfap91 C T 16: 38,155,885 (GRCm39) V113I probably benign Het
Cr2 A G 1: 194,853,349 (GRCm39) I43T possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Cylc2 A T 4: 51,229,840 (GRCm39) D394V unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dcaf8 T C 1: 172,007,460 (GRCm39) probably benign Het
Dlec1 A T 9: 118,957,146 (GRCm39) I796F probably damaging Het
Dnah12 A T 14: 26,494,971 (GRCm39) Q1343L probably damaging Het
Dnajc21 T C 15: 10,447,183 (GRCm39) R522G probably benign Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Glrb T C 3: 80,786,993 (GRCm39) S57G probably damaging Het
Gm5507 T A 18: 54,117,409 (GRCm39) noncoding transcript Het
Golga4 A G 9: 118,385,913 (GRCm39) K22E probably damaging Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Ift122 T A 6: 115,867,549 (GRCm39) L433Q probably damaging Het
Il21r A G 7: 125,228,071 (GRCm39) R181G probably damaging Het
Il5ra G T 6: 106,715,459 (GRCm39) S125* probably null Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Lepr T A 4: 101,671,838 (GRCm39) I954N probably benign Het
Lims1 T C 10: 58,254,612 (GRCm39) probably benign Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Muc15 T C 2: 110,567,844 (GRCm39) S330P probably damaging Het
Ncapg T C 5: 45,828,554 (GRCm39) F102L probably damaging Het
Nkd2 T C 13: 73,971,475 (GRCm39) D187G probably benign Het
Nphp1 C T 2: 127,607,939 (GRCm39) probably null Het
Or10ag59 T C 2: 87,405,530 (GRCm39) F34S probably benign Het
Or1e19 T C 11: 73,316,012 (GRCm39) N266D probably benign Het
Or2a12 C T 6: 42,904,348 (GRCm39) S61L probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pdhx A T 2: 102,903,742 (GRCm39) L18Q probably null Het
Pear1 C T 3: 87,661,968 (GRCm39) G469D probably damaging Het
Plec T C 15: 76,065,757 (GRCm39) T1506A probably benign Het
Plod3 T A 5: 137,017,801 (GRCm39) D192E possibly damaging Het
Rbks T C 5: 31,781,912 (GRCm39) N296S probably benign Het
Sema3c G A 5: 17,899,770 (GRCm39) V421I probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Tmem200c A G 17: 69,149,166 (GRCm39) D583G probably benign Het
Trpm6 A G 19: 18,809,841 (GRCm39) Y1079C probably damaging Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Vcp T C 4: 42,988,813 (GRCm39) probably benign Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Wdr11 A G 7: 129,230,729 (GRCm39) E878G probably damaging Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown 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
R3123:F2rl3 UTSW 8 73,489,840 (GRCm39) missense probably damaging 1.00
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'- ATTCTGTGCCAACGACAGTG -3'
(R):5'- AGTAGTGAGGCGTTGACCAC -3'

Sequencing Primer
(F):5'- ACGACAGTGACACGCTG -3'
(R):5'- GGTATCTGTCCAAGCTGA -3'
Posted On 2015-08-18