Incidental Mutation 'R5229:F2rl2'
ID 403677
Institutional Source Beutler Lab
Gene Symbol F2rl2
Ensembl Gene ENSMUSG00000021675
Gene Name coagulation factor II thrombin receptor like 2
Synonyms PAR3, PAR-3
MMRRC Submission 042802-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5229 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 95833428-95839276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95837195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 80 (N80I)
Ref Sequence ENSEMBL: ENSMUSP00000022182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022182] [ENSMUST00000068603]
AlphaFold O08675
PDB Structure Crystal structure of murine thrombin in complex with the extracellular fragment of murine PAR3 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022182
AA Change: N80I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: N80I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:7tm_1 110 295 1.7e-32 PFAM
Pfam:7tm_1 297 357 1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068603
SMART Domains Protein: ENSMUSP00000067685
Gene: ENSMUSG00000021676

DomainStartEndE-ValueType
CH 43 152 3.32e-16 SMART
coiled coil region 253 276 N/A INTRINSIC
low complexity region 469 480 N/A INTRINSIC
IQ 689 711 1.38e-4 SMART
IQ 719 741 7.36e0 SMART
IQ 749 771 2.43e1 SMART
coiled coil region 799 828 N/A INTRINSIC
RasGAP 905 1258 2.6e-120 SMART
Pfam:RasGAP_C 1367 1498 3.2e-40 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous mutation of this gene results in prolonged bleeding times, delayed and reduced thrombin responses in platelets, and protection against thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T C 1: 16,151,183 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,667,915 (GRCm39) I435M possibly damaging Het
Adcy5 A G 16: 35,089,440 (GRCm39) I546V probably damaging Het
Apob A G 12: 8,027,806 (GRCm39) T10A probably benign Het
Brwd1 C A 16: 95,803,409 (GRCm39) D2254Y possibly damaging Het
Bub1b C A 2: 118,460,470 (GRCm39) D600E probably damaging Het
Cnga1 A G 5: 72,766,843 (GRCm39) S199P probably damaging Het
Cyp3a11 G T 5: 145,791,945 (GRCm39) L483I probably benign Het
Depp1 T C 6: 116,628,992 (GRCm39) S112P possibly damaging Het
Dpysl3 C A 18: 43,466,016 (GRCm39) G457V probably damaging Het
Eif4g3 C A 4: 137,824,105 (GRCm39) P36T possibly damaging Het
Epb41 C A 4: 131,706,246 (GRCm39) G415C probably damaging Het
Erap1 G A 13: 74,808,494 (GRCm39) V69M possibly damaging Het
F2 A T 2: 91,460,586 (GRCm39) Y301* probably null Het
Fam237b A T 5: 5,625,565 (GRCm39) Y87F possibly damaging Het
Gm15446 T G 5: 110,091,036 (GRCm39) H429Q probably damaging Het
Gpat3 G A 5: 101,031,290 (GRCm39) G148D probably damaging Het
Gpr26 A T 7: 131,585,976 (GRCm39) R315S probably damaging Het
Hdac9 A C 12: 34,487,163 (GRCm39) H100Q probably damaging Het
Heatr5a A T 12: 51,994,761 (GRCm39) V457D probably benign Het
Igkv10-96 A G 6: 68,609,223 (GRCm39) M24T possibly damaging Het
Igkv2-95-2 A G 6: 68,625,095 (GRCm39) noncoding transcript Het
Kdm4a G A 4: 118,003,802 (GRCm39) S758F probably damaging Het
Lrg1 A G 17: 56,427,154 (GRCm39) W273R probably damaging Het
Man2a1 A T 17: 65,017,729 (GRCm39) Q658H probably benign Het
Mapkapk5 T C 5: 121,671,454 (GRCm39) probably null Het
Mcm6 T C 1: 128,261,321 (GRCm39) D761G possibly damaging Het
Myh8 A T 11: 67,175,310 (GRCm39) Y286F probably damaging Het
Nbn C T 4: 15,963,893 (GRCm39) T98I probably damaging Het
Nrdc T C 4: 108,906,305 (GRCm39) S685P probably damaging Het
Nudcd3 A G 11: 6,143,238 (GRCm39) V80A probably benign Het
Or10al5 A G 17: 38,063,192 (GRCm39) H149R probably benign Het
Or5p54 A G 7: 107,554,376 (GRCm39) H176R probably damaging Het
Pdcd6ip A T 9: 113,507,401 (GRCm39) M390K probably damaging Het
Pon1 C T 6: 5,177,295 (GRCm39) V205I possibly damaging Het
Ppp4r2 C A 6: 100,842,176 (GRCm39) H212Q probably benign Het
Pramel32 T C 4: 88,548,372 (GRCm39) D11G possibly damaging Het
Prl2c5 G A 13: 13,360,441 (GRCm39) C33Y probably damaging Het
Rbak A G 5: 143,159,917 (GRCm39) F379L probably damaging Het
Rcc2 G A 4: 140,444,340 (GRCm39) D344N probably damaging Het
Rgs3 T C 4: 62,620,424 (GRCm39) L550P probably damaging Het
Rnasek A T 11: 70,130,486 (GRCm39) M25K probably damaging Het
Scgb1b24 A T 7: 33,443,520 (GRCm39) T60S possibly damaging Het
Scn5a A G 9: 119,365,042 (GRCm39) F392S probably damaging Het
Scpep1 A T 11: 88,827,871 (GRCm39) V209E probably damaging Het
Slc35g1 A G 19: 38,391,080 (GRCm39) probably null Het
Sorbs1 A G 19: 40,329,151 (GRCm39) I554T probably damaging Het
Spats1 A G 17: 45,777,059 (GRCm39) probably benign Het
Tdp1 A G 12: 99,859,919 (GRCm39) Q202R probably damaging Het
Trav6-5 T G 14: 53,729,045 (GRCm39) S102A probably damaging Het
Tspan2 T C 3: 102,676,215 (GRCm39) M208T probably damaging Het
Ube4b A G 4: 149,471,635 (GRCm39) S84P probably damaging Het
Vmn1r237 C A 17: 21,534,633 (GRCm39) Q119K probably benign Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Zfp65 A T 13: 67,856,929 (GRCm39) S117T probably benign Het
Other mutations in F2rl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01385:F2rl2 APN 13 95,837,836 (GRCm39) missense probably benign 0.00
R0014:F2rl2 UTSW 13 95,837,417 (GRCm39) missense probably damaging 0.99
R0014:F2rl2 UTSW 13 95,837,417 (GRCm39) missense probably damaging 0.99
R0969:F2rl2 UTSW 13 95,837,461 (GRCm39) missense probably damaging 1.00
R1183:F2rl2 UTSW 13 95,837,621 (GRCm39) missense probably damaging 0.96
R1482:F2rl2 UTSW 13 95,838,047 (GRCm39) missense probably benign 0.02
R1753:F2rl2 UTSW 13 95,837,969 (GRCm39) missense probably benign 0.16
R2428:F2rl2 UTSW 13 95,833,585 (GRCm39) missense possibly damaging 0.75
R3151:F2rl2 UTSW 13 95,837,638 (GRCm39) missense probably benign 0.00
R4678:F2rl2 UTSW 13 95,837,140 (GRCm39) missense probably benign 0.10
R5153:F2rl2 UTSW 13 95,833,620 (GRCm39) missense probably benign 0.00
R5635:F2rl2 UTSW 13 95,837,290 (GRCm39) missense possibly damaging 0.88
R6041:F2rl2 UTSW 13 95,837,617 (GRCm39) missense probably benign 0.01
R6146:F2rl2 UTSW 13 95,837,149 (GRCm39) missense probably benign 0.08
R6974:F2rl2 UTSW 13 95,837,038 (GRCm39) missense probably damaging 0.97
R6993:F2rl2 UTSW 13 95,837,642 (GRCm39) missense probably damaging 1.00
R7833:F2rl2 UTSW 13 95,837,426 (GRCm39) missense probably damaging 0.96
R7869:F2rl2 UTSW 13 95,837,519 (GRCm39) missense probably damaging 0.99
R8187:F2rl2 UTSW 13 95,837,911 (GRCm39) missense probably benign 0.00
R8694:F2rl2 UTSW 13 95,837,339 (GRCm39) missense probably benign 0.00
R9445:F2rl2 UTSW 13 95,837,622 (GRCm39) missense probably benign 0.28
R9694:F2rl2 UTSW 13 95,838,050 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- ACAGGTGGGACTTGATAACAAACC -3'
(R):5'- AAAGGAGATCTGCGATGGCC -3'

Sequencing Primer
(F):5'- GTGGGACTTGATAACAAACCATATGC -3'
(R):5'- CCAGGTTGGTGTGAAAGATGACC -3'
Posted On 2016-07-22