Incidental Mutation 'R4881:F2r'
ID 375297
Institutional Source Beutler Lab
Gene Symbol F2r
Ensembl Gene ENSMUSG00000048376
Gene Name coagulation factor II thrombin receptor
Synonyms Cf2r, Par1, thrombin receptor, ThrR
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R4881 (G1)
Quality Score 113
Status Validated
Chromosome 13
Chromosomal Location 95738311-95754995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95754837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 16 (C16S)
Ref Sequence ENSEMBL: ENSMUSP00000061754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059193]
AlphaFold P30558
Predicted Effect possibly damaging
Transcript: ENSMUST00000059193
AA Change: C16S

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061754
Gene: ENSMUSG00000048376
AA Change: C16S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:7tm_1 124 376 4.1e-40 PFAM
Meta Mutation Damage Score 0.3270 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Targeted mutations of this locus result in increased midgestational lethality, with up to ~50% of mutants surviving to adulthood. Gene deficiency does not affect thrombin signaling in mouse platelets but markedly attenuates thrombin signaling in mouse microvascular endothelial cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,877,472 (GRCm39) L1040P possibly damaging Het
Acot11 C A 4: 106,612,502 (GRCm39) probably null Het
Aldoart2 C A 12: 55,612,899 (GRCm39) Q275K probably damaging Het
Auts2 T C 5: 131,501,288 (GRCm39) T42A probably damaging Het
Bora C T 14: 99,299,003 (GRCm39) L187F probably damaging Het
Cbln4 A G 2: 171,884,059 (GRCm39) S54P possibly damaging Het
Celsr3 T A 9: 108,721,140 (GRCm39) L2661Q probably damaging Het
Cfap65 T C 1: 74,946,772 (GRCm39) T1313A probably damaging Het
Dbndd2 C A 2: 164,332,225 (GRCm39) probably benign Het
Dennd4a A G 9: 64,746,126 (GRCm39) D4G possibly damaging Het
Dmxl1 T A 18: 50,090,348 (GRCm39) probably benign Het
Dnah7b T C 1: 46,240,478 (GRCm39) C1532R probably damaging Het
Erbb3 A T 10: 128,412,816 (GRCm39) H591Q probably benign Het
Exosc4 T C 15: 76,213,770 (GRCm39) L198P probably damaging Het
Gtf2h4 A T 17: 35,981,125 (GRCm39) I234N possibly damaging Het
Ift27 A T 15: 78,049,448 (GRCm39) V84D probably damaging Het
Ints10 C T 8: 69,263,256 (GRCm39) A389V probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Klrc2 T A 6: 129,637,471 (GRCm39) T17S possibly damaging Het
Matr3 T A 18: 35,705,428 (GRCm39) S118T probably damaging Het
Mfsd6l C T 11: 68,448,748 (GRCm39) A533V probably benign Het
Msh3 A G 13: 92,402,549 (GRCm39) probably benign Het
Myo5c A G 9: 75,191,434 (GRCm39) M1103V probably benign Het
Niban2 C A 2: 32,812,590 (GRCm39) Y446* probably null Het
Or2y1e T A 11: 49,219,124 (GRCm39) D295E probably benign Het
Or5e1 T C 7: 108,354,612 (GRCm39) L183P probably damaging Het
Or6z3 A T 7: 6,463,753 (GRCm39) M82L probably benign Het
Osbpl3 A T 6: 50,329,764 (GRCm39) D88E possibly damaging Het
Pou1f1 C T 16: 65,328,728 (GRCm39) T149I probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Rcor1 A G 12: 111,063,986 (GRCm39) D95G probably damaging Het
Rttn T C 18: 89,119,809 (GRCm39) L1748P probably damaging Het
Slco2a1 A G 9: 102,963,031 (GRCm39) K629E possibly damaging Het
Smarcc1 A G 9: 109,964,696 (GRCm39) probably benign Het
Son A G 16: 91,472,397 (GRCm39) K360E probably benign Het
Stab1 A T 14: 30,865,629 (GRCm39) M1753K probably benign Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tmem63c A T 12: 87,133,192 (GRCm39) T736S possibly damaging Het
Tmpo G A 10: 90,998,503 (GRCm39) P428L possibly damaging Het
Tmprss11a G T 5: 86,570,432 (GRCm39) Q176K probably damaging Het
Trappc4 A G 9: 44,315,322 (GRCm39) S219P probably damaging Het
Vmn2r117 G T 17: 23,696,859 (GRCm39) P183T probably damaging Het
Vmn2r54 C T 7: 12,363,598 (GRCm39) V432I probably benign Het
Vtcn1 G A 3: 100,799,909 (GRCm39) G257R probably benign Het
Yipf1 T A 4: 107,202,288 (GRCm39) M217K possibly damaging Het
Zfc3h1 T C 10: 115,236,647 (GRCm39) S374P probably benign Het
Zfp407 T C 18: 84,577,828 (GRCm39) H1095R probably benign Het
Zfp661 A T 2: 127,420,564 (GRCm39) H78Q probably benign Het
Zfp957 T C 14: 79,450,849 (GRCm39) T317A unknown Het
Zfyve9 T A 4: 108,584,688 (GRCm39) probably null Het
Other mutations in F2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:F2r APN 13 95,741,160 (GRCm39) missense probably damaging 1.00
R0116:F2r UTSW 13 95,740,994 (GRCm39) nonsense probably null
R0394:F2r UTSW 13 95,740,984 (GRCm39) missense probably damaging 1.00
R0579:F2r UTSW 13 95,754,857 (GRCm39) missense probably benign 0.00
R1636:F2r UTSW 13 95,740,400 (GRCm39) nonsense probably null
R1920:F2r UTSW 13 95,740,698 (GRCm39) missense probably damaging 1.00
R2085:F2r UTSW 13 95,741,418 (GRCm39) missense probably benign 0.24
R4888:F2r UTSW 13 95,740,905 (GRCm39) missense probably damaging 1.00
R5905:F2r UTSW 13 95,741,121 (GRCm39) missense possibly damaging 0.84
R7359:F2r UTSW 13 95,741,194 (GRCm39) missense probably damaging 0.99
R7378:F2r UTSW 13 95,754,836 (GRCm39) missense probably damaging 0.98
R7546:F2r UTSW 13 95,754,858 (GRCm39) missense probably benign 0.28
R8230:F2r UTSW 13 95,741,247 (GRCm39) missense possibly damaging 0.77
R9391:F2r UTSW 13 95,740,656 (GRCm39) missense probably damaging 0.96
X0024:F2r UTSW 13 95,754,839 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- AATGACTGTTTGGCTCCTGG -3'
(R):5'- ACGTCCCAGGAGAGTCATTG -3'

Sequencing Primer
(F):5'- TTGGCTCCTGGGGGAAAC -3'
(R):5'- TGAGTCACTCCCAGGCTTG -3'
Posted On 2016-03-17