Incidental Mutation 'R9391:F2r'
ID 710608
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 non essential (E-score: 0.483) question?
Stock # R9391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95738311-95754995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95740656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 293 (V293D)
Ref Sequence ENSEMBL: ENSMUSP00000061754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059193]
AlphaFold P30558
Predicted Effect probably damaging
Transcript: ENSMUST00000059193
AA Change: V293D

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061754
Gene: ENSMUSG00000048376
AA Change: V293D

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:7tm_1 124 376 4.1e-40 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,178,542 (GRCm39) T1144A probably benign Het
Adam32 C T 8: 25,374,472 (GRCm39) E507K probably damaging Het
Adgrf3 T C 5: 30,400,071 (GRCm39) E974G possibly damaging Het
Agbl1 A G 7: 76,071,602 (GRCm39) E560G unknown Het
Ank2 A T 3: 126,731,394 (GRCm39) H671Q probably damaging Het
Asic5 C T 3: 81,928,366 (GRCm39) T485M probably benign Het
Bco2 T C 9: 50,446,022 (GRCm39) probably null Het
C1qtnf6 A G 15: 78,415,516 (GRCm39) C23R unknown Het
Ccdc18 T C 5: 108,376,770 (GRCm39) F1404L probably benign Het
Cfap46 A T 7: 139,198,027 (GRCm39) I2107N unknown Het
Cfap97d1 G T 11: 101,881,655 (GRCm39) R117I probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cpb2 A C 14: 75,508,136 (GRCm39) Q199P probably damaging Het
Dnah7b T A 1: 46,272,914 (GRCm39) Y2347* probably null Het
Dyrk1a T A 16: 94,460,373 (GRCm39) C10S possibly damaging Het
Gm28363 G A 1: 117,626,629 (GRCm39) W22* probably null Het
Hira T C 16: 18,767,892 (GRCm39) S696P possibly damaging Het
Klhl2 A G 8: 65,275,684 (GRCm39) V73A probably damaging Het
Lalba A T 15: 98,380,417 (GRCm39) W46R probably damaging Het
Map3k13 C A 16: 21,740,665 (GRCm39) T664N probably benign Het
Ncor1 T A 11: 62,216,376 (GRCm39) K1166* probably null Het
Npdc1 T A 2: 25,297,979 (GRCm39) M176K possibly damaging Het
Obscn A G 11: 58,964,408 (GRCm39) S3045P probably damaging Het
Or13a20 G A 7: 140,232,272 (GRCm39) A127T probably damaging Het
Plekhg4 G C 8: 106,106,043 (GRCm39) K813N probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prdm12 G A 2: 31,544,162 (GRCm39) R255H probably benign Het
Rbbp8 T C 18: 11,854,990 (GRCm39) I405T possibly damaging Het
Sctr A G 1: 119,983,178 (GRCm39) T328A probably benign Het
Sec63 T A 10: 42,681,101 (GRCm39) S362T probably benign Het
Sgsm2 A G 11: 74,744,630 (GRCm39) L818P probably damaging Het
Shprh G A 10: 11,038,633 (GRCm39) V463I probably benign Het
Smyd5 T C 6: 85,418,739 (GRCm39) F241S probably damaging Het
Tax1bp1 T A 6: 52,735,220 (GRCm39) Y680* probably null Het
Tbc1d17 A G 7: 44,494,683 (GRCm39) S212P probably damaging Het
Tle1 A T 4: 72,116,159 (GRCm39) V62E probably damaging Het
Tnfaip3 G T 10: 18,883,075 (GRCm39) N163K probably damaging Het
Trim8 T A 19: 46,503,955 (GRCm39) Y502* probably null Het
Trip12 A T 1: 84,773,473 (GRCm39) F54L probably benign Het
Trpc2 T A 7: 101,745,067 (GRCm39) L761Q probably damaging Het
Vps41 A T 13: 18,994,616 (GRCm39) E154D probably benign 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
R8230:F2r UTSW 13 95,741,247 (GRCm39) missense possibly damaging 0.77
X0024:F2r UTSW 13 95,754,839 (GRCm39) missense probably benign 0.25
Predicted Primers PCR Primer
(F):5'- AGCAAAGTAGGCTGCCTCTG -3'
(R):5'- CAACTTCACTTGCGTGGTCATTTG -3'

Sequencing Primer
(F):5'- AAAGTAGGCTGCCTCTGTACCAG -3'
(R):5'- TCATTTGGGTGATGGCCATC -3'
Posted On 2022-04-18