Incidental Mutation 'IGL02302:F2r'
ID287418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F2r
Ensembl Gene ENSMUSG00000048376
Gene Namecoagulation factor II (thrombin) receptor
SynonymsThrR, Par1, thrombin receptor, Cf2r
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.520) question?
Stock #IGL02302
Quality Score
Status
Chromosome13
Chromosomal Location95601803-95618487 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95604652 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 125 (N125S)
Ref Sequence ENSEMBL: ENSMUSP00000061754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059193]
Predicted Effect probably damaging
Transcript: ENSMUST00000059193
AA Change: N125S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061754
Gene: ENSMUSG00000048376
AA Change: N125S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:7tm_1 124 376 4.1e-40 PFAM
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,383,098 Q211L possibly damaging Het
2210016F16Rik G A 13: 58,381,935 R288W probably damaging Het
Abca14 T A 7: 120,318,745 probably benign Het
Abcb10 A T 8: 123,958,672 V543D possibly damaging Het
Ankrd17 G A 5: 90,283,198 T909I probably benign Het
Arhgef3 A G 14: 27,362,842 N76S probably benign Het
Bbx A T 16: 50,224,915 C320S probably damaging Het
Cdh23 C A 10: 60,323,523 V2159F possibly damaging Het
Cmtr2 G A 8: 110,221,504 A149T probably damaging Het
Cntnap4 A G 8: 112,785,903 probably benign Het
Col6a3 A T 1: 90,781,760 F1905I unknown Het
Ddx60 A G 8: 61,975,832 Y792C possibly damaging Het
Dock4 T C 12: 40,725,777 L573P probably damaging Het
Dopey2 A G 16: 93,810,117 I2103V probably benign Het
Ear1 T G 14: 43,819,047 Q121H probably benign Het
Eprs T A 1: 185,387,124 probably benign Het
Ero1l T C 14: 45,293,162 K271R probably benign Het
Esyt1 A G 10: 128,512,367 L884P probably damaging Het
Fam129b A G 2: 32,921,123 I382V probably benign Het
Fam217a T C 13: 34,911,161 E357G probably damaging Het
Gabbr1 C T 17: 37,054,797 R123W probably damaging Het
Gatsl2 G A 5: 134,135,643 V148I possibly damaging Het
Gimap4 T G 6: 48,690,413 V34G probably damaging Het
Gm3248 A T 14: 5,943,011 V180E probably benign Het
Hecw2 A T 1: 53,933,248 N204K probably damaging Het
Ighv1-84 T A 12: 115,980,929 K42* probably null Het
Kcnh7 T A 2: 62,706,058 Q1060L probably damaging Het
Kif3b T A 2: 153,316,948 I223N probably damaging Het
Lama2 G A 10: 27,212,043 P913S probably benign Het
Lgr4 A G 2: 110,002,496 I334M probably damaging Het
Lrrc45 G T 11: 120,718,525 E403D possibly damaging Het
Mccc2 A G 13: 99,954,239 L462P probably damaging Het
Mfsd13b T C 7: 120,998,909 V346A probably damaging Het
Muc6 T C 7: 141,641,496 T1342A possibly damaging Het
Mxd3 T C 13: 55,329,278 N56S probably benign Het
Ntn5 G T 7: 45,694,248 R337L probably damaging Het
Nynrin A G 14: 55,868,505 K894E probably benign Het
Olfr1305 A C 2: 111,873,542 S104R possibly damaging Het
Olfr350 G T 2: 36,850,703 G219V probably benign Het
Olfr447 T A 6: 42,912,338 Y272N probably damaging Het
Olfr859 A T 9: 19,808,685 R122S probably damaging Het
Pappa2 T C 1: 158,715,001 D1772G probably benign Het
Pcdh18 G T 3: 49,755,938 F309L probably benign Het
Pcdhac2 G T 18: 37,145,953 R662L probably damaging Het
Ppp5c G A 7: 17,008,630 S261L possibly damaging Het
Rc3h1 T C 1: 160,938,105 probably benign Het
Rfx8 A C 1: 39,665,522 S578A possibly damaging Het
Rhbdl3 T G 11: 80,353,681 *405E probably null Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf139 G T 15: 58,898,757 L210F probably damaging Het
Rragc A G 4: 123,921,086 R192G possibly damaging Het
Ryr3 A T 2: 112,964,356 V137E probably damaging Het
S100pbp A T 4: 129,182,441 D30E probably damaging Het
Smchd1 A T 17: 71,358,133 probably benign Het
Sppl3 T A 5: 115,082,331 C101S probably benign Het
St5 A G 7: 109,525,331 V1101A probably damaging Het
St8sia6 T C 2: 13,723,513 T74A probably benign Het
Sult3a1 A G 10: 33,866,575 N66S possibly damaging Het
Sv2b T A 7: 75,124,199 K508M probably damaging Het
Terf1 T C 1: 15,833,402 S275P probably damaging Het
Tmed8 G T 12: 87,174,216 H199N probably damaging Het
Tubg2 A T 11: 101,156,145 Q9L probably damaging Het
Ubxn4 C T 1: 128,256,111 probably benign Het
Usp34 C T 11: 23,467,243 T2964I possibly damaging Het
Zfp213 A G 17: 23,557,971 S366P possibly damaging Het
Other mutations in F2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0116:F2r UTSW 13 95604486 nonsense probably null
R0394:F2r UTSW 13 95604476 missense probably damaging 1.00
R0579:F2r UTSW 13 95618349 missense probably benign 0.00
R1636:F2r UTSW 13 95603892 nonsense probably null
R1920:F2r UTSW 13 95604190 missense probably damaging 1.00
R2085:F2r UTSW 13 95604910 missense probably benign 0.24
R4881:F2r UTSW 13 95618329 missense possibly damaging 0.73
R4888:F2r UTSW 13 95604397 missense probably damaging 1.00
R5905:F2r UTSW 13 95604613 missense possibly damaging 0.84
R7359:F2r UTSW 13 95604686 missense probably damaging 0.99
R7378:F2r UTSW 13 95618328 missense probably damaging 0.98
R7546:F2r UTSW 13 95618350 missense probably benign 0.28
X0024:F2r UTSW 13 95618331 missense probably benign 0.25
Posted On2015-04-16