Incidental Mutation 'R8230:F2r'
ID 637117
Institutional Source Beutler Lab
Gene Symbol F2r
Ensembl Gene ENSMUSG00000048376
Gene Name coagulation factor II thrombin receptor
Synonyms Cf2r, Par1, thrombin receptor, ThrR
MMRRC Submission 067662-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.483) question?
Stock # R8230 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95738311-95754995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95741247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 96 (D96V)
Ref Sequence ENSEMBL: ENSMUSP00000061754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059193]
AlphaFold P30558
Predicted Effect possibly damaging
Transcript: ENSMUST00000059193
AA Change: D96V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000061754
Gene: ENSMUSG00000048376
AA Change: D96V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:7tm_1 124 376 4.1e-40 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,246,904 (GRCm39) Y485H probably benign Het
Actl7a T A 4: 56,743,768 (GRCm39) H98Q probably damaging Het
Adam15 G A 3: 89,252,917 (GRCm39) T267I probably benign Het
Ankrd17 T C 5: 90,391,835 (GRCm39) H1945R possibly damaging Het
Baiap3 A G 17: 25,465,827 (GRCm39) I585T probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cbx3 T C 6: 51,452,281 (GRCm39) V32A probably damaging Het
Ccdc127 T C 13: 74,508,751 (GRCm39) F50S unknown Het
Ccdc15 T C 9: 37,226,555 (GRCm39) E473G probably benign Het
Clasp2 A G 9: 113,721,482 (GRCm39) D763G possibly damaging Het
Dab2 T A 15: 6,451,824 (GRCm39) F147I probably damaging Het
Dcaf1 G A 9: 106,735,914 (GRCm39) G954D probably damaging Het
Etv1 T C 12: 38,830,935 (GRCm39) M1T probably null Het
Fancm A G 12: 65,149,424 (GRCm39) D730G probably benign Het
Fbf1 T C 11: 116,037,565 (GRCm39) I892V probably benign Het
Gbp8 T C 5: 105,198,735 (GRCm39) N60S probably benign Het
Gm12790 T C 4: 101,825,280 (GRCm39) I45V probably benign Het
Herc1 G A 9: 66,377,598 (GRCm39) V3455I probably damaging Het
Hic1 T C 11: 75,056,411 (GRCm39) D826G possibly damaging Het
Hmcn2 A G 2: 31,234,485 (GRCm39) Y300C possibly damaging Het
Ifit1 A G 19: 34,625,068 (GRCm39) Q68R probably benign Het
Igdcc4 A G 9: 65,030,020 (GRCm39) Y309C probably damaging Het
Itpr3 T C 17: 27,326,711 (GRCm39) probably null Het
Kat7 T C 11: 95,168,415 (GRCm39) K414E probably damaging Het
Lmnb2 A T 10: 80,740,982 (GRCm39) L260Q probably damaging Het
Mapk1 T C 16: 16,843,930 (GRCm39) I215T noncoding transcript Het
Ntpcr G T 8: 126,464,159 (GRCm39) probably null Het
Ntrk3 C A 7: 77,900,518 (GRCm39) C607F probably damaging Het
Or10ag54 A T 2: 87,099,545 (GRCm39) H119L probably benign Het
Or56a4 A G 7: 104,806,631 (GRCm39) I86T probably damaging Het
Or5w13 T A 2: 87,523,705 (GRCm39) I174F probably damaging Het
Pcdh15 T C 10: 74,191,707 (GRCm39) V601A probably damaging Het
Plagl2 A G 2: 153,074,239 (GRCm39) C221R probably damaging Het
Shf A G 2: 122,179,968 (GRCm39) Y195H probably damaging Het
Tapbpl T A 6: 125,203,684 (GRCm39) Y332F probably damaging Het
Tbx15 G T 3: 99,259,305 (GRCm39) C392F probably damaging Het
Ubxn7 T C 16: 32,194,094 (GRCm39) L222P probably benign Het
Vsig8 A T 1: 172,389,078 (GRCm39) D222V probably damaging Het
Xirp2 A G 2: 67,346,009 (GRCm39) E2750G probably damaging Het
Zfp870 A G 17: 33,102,663 (GRCm39) V222A possibly damaging 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
R4881:F2r UTSW 13 95,754,837 (GRCm39) missense possibly damaging 0.73
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
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'- CGGAGAAGTAGTAGCTGATCTTG -3'
(R):5'- ACAGATGCTACGGTGAACCC -3'

Sequencing Primer
(F):5'- CTGATCTTGAAGGGGAGCACC -3'
(R):5'- GGTGAACCCCCGCTCATTC -3'
Posted On 2020-07-13