Incidental Mutation 'R0579:F2r'
ID 261956
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 038769-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R0579 (G1)
Quality Score 45
Status Validated
Chromosome 13
Chromosomal Location 95738311-95754995 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95754857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 9 (V9A)
Ref Sequence ENSEMBL: ENSMUSP00000061754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059193]
AlphaFold P30558
Predicted Effect probably benign
Transcript: ENSMUST00000059193
AA Change: V9A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000061754
Gene: ENSMUSG00000048376
AA Change: V9A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:7tm_1 124 376 4.1e-40 PFAM
Meta Mutation Damage Score 0.0919 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Abcf3 G A 16: 20,369,398 (GRCm39) R260Q probably benign Het
Abcg3 A G 5: 105,121,969 (GRCm39) V136A probably damaging Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Ambra1 A G 2: 91,654,810 (GRCm39) N783S possibly damaging Het
Cd300ld2 A G 11: 114,903,125 (GRCm39) F240S probably benign Het
Cep83 A G 10: 94,584,915 (GRCm39) D340G possibly damaging Het
Crybg2 T A 4: 133,800,049 (GRCm39) I403N probably damaging Het
Dnah14 T A 1: 181,572,312 (GRCm39) M2881K possibly damaging Het
Erbb4 T C 1: 68,081,621 (GRCm39) M1138V probably benign Het
Evi5 A G 5: 107,969,575 (GRCm39) V112A probably benign Het
Flot1 C A 17: 36,141,900 (GRCm39) S337R probably benign Het
Glt28d2 G A 3: 85,779,440 (GRCm39) T11I probably damaging Het
Gm19345 A G 7: 19,588,901 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Hmgcs2 A T 3: 98,198,264 (GRCm39) I56F probably damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Il21 T G 3: 37,281,923 (GRCm39) K74Q possibly damaging Het
Itpripl1 G T 2: 126,983,011 (GRCm39) Y370* probably null Het
Kif24 G A 4: 41,393,706 (GRCm39) P1056S probably damaging Het
L2hgdh A T 12: 69,748,046 (GRCm39) probably benign Het
Lipo2 A T 19: 33,724,298 (GRCm39) L156Q probably damaging Het
Nlrp4c T A 7: 6,063,844 (GRCm39) M84K probably benign Het
Npy4r G A 14: 33,868,640 (GRCm39) T216I probably benign Het
Or12d17 T C 17: 37,777,238 (GRCm39) V47A probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or6c1 A T 10: 129,518,106 (GRCm39) C167* probably null Het
Pafah1b2 T C 9: 45,880,011 (GRCm39) E222G probably benign Het
Pop1 T A 15: 34,510,115 (GRCm39) D406E possibly damaging Het
Proser1 A G 3: 53,374,572 (GRCm39) Y32C probably damaging Het
Ptprj C A 2: 90,266,913 (GRCm39) probably null Het
Slc1a3 T A 15: 8,717,793 (GRCm39) I100F probably damaging Het
Slc25a22 T C 7: 141,011,272 (GRCm39) D176G probably damaging Het
Stard7 T C 2: 127,126,473 (GRCm39) V99A probably damaging Het
Stk33 C T 7: 108,924,904 (GRCm39) V184I probably damaging Het
Timmdc1 A G 16: 38,342,745 (GRCm39) L51P probably benign Het
Tppp T C 13: 74,169,352 (GRCm39) S31P probably benign Het
Upf2 A T 2: 5,993,240 (GRCm39) R599W unknown Het
Vav1 G T 17: 57,586,271 (GRCm39) W25L 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
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
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'- AAAGCGACTGTGGAGACCGTTC -3'
(R):5'- CACGTCCCAGGAGAGTCATTGAAG -3'

Sequencing Primer
(F):5'- TAGGGGAACCTCTAGATCTCG -3'
(R):5'- AGGCTTGCAGCTCAACC -3'
Posted On 2015-02-04