Incidental Mutation 'IGL01385:F2rl2'
ID 79009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F2rl2
Ensembl Gene ENSMUSG00000021675
Gene Name coagulation factor II thrombin receptor like 2
Synonyms PAR3, PAR-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01385
Quality Score
Status
Chromosome 13
Chromosomal Location 95833428-95839276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 95837836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 294 (I294L)
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 probably benign
Transcript: ENSMUST00000022182
AA Change: I294L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000022182
Gene: ENSMUSG00000021675
AA Change: I294L

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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,057,346 (GRCm39) S292R probably damaging Het
Adamts19 A G 18: 59,105,851 (GRCm39) T749A probably damaging Het
Agap2 A T 10: 126,923,865 (GRCm39) I747F unknown Het
Arhgap35 T A 7: 16,298,399 (GRCm39) N222I probably damaging Het
Atp10b A G 11: 43,125,256 (GRCm39) E1074G probably damaging Het
Brd3 T C 2: 27,354,101 (GRCm39) T4A possibly damaging Het
Col6a6 A G 9: 105,660,865 (GRCm39) S415P probably damaging Het
Dennd2a A G 6: 39,500,070 (GRCm39) V165A probably damaging Het
Dnm1l T A 16: 16,159,317 (GRCm39) E95V probably damaging Het
Dock9 A G 14: 121,817,995 (GRCm39) Y1609H possibly damaging Het
Esm1 A C 13: 113,353,216 (GRCm39) E166A possibly damaging Het
Gstt3 A G 10: 75,610,822 (GRCm39) S187P probably benign Het
Katna1 T C 10: 7,628,574 (GRCm39) C268R probably damaging Het
Mbd5 T A 2: 49,140,233 (GRCm39) C66S possibly damaging Het
Naa35 G A 13: 59,748,880 (GRCm39) E167K probably damaging Het
Or10ak16 T C 4: 118,750,748 (GRCm39) L156S probably benign Het
Osbpl2 A G 2: 179,778,873 (GRCm39) N2S probably benign Het
Parp6 T C 9: 59,537,895 (GRCm39) probably benign Het
Pcdhb5 T A 18: 37,455,267 (GRCm39) V549E probably benign Het
Pcnx4 T C 12: 72,620,520 (GRCm39) L780P probably damaging Het
Plcb3 A T 19: 6,935,276 (GRCm39) D851E probably benign Het
Ppfia2 A G 10: 106,749,560 (GRCm39) S1149G probably damaging Het
Prkca A G 11: 107,869,178 (GRCm39) V469A probably damaging Het
Ryr1 A T 7: 28,756,410 (GRCm39) V3468D probably damaging Het
Spmip3 G A 1: 177,568,640 (GRCm39) G46R probably benign Het
Stxbp4 A G 11: 90,431,074 (GRCm39) V412A possibly damaging Het
Vmn1r238 G T 18: 3,122,770 (GRCm39) Q215K possibly damaging Het
Wdr11 A G 7: 129,209,637 (GRCm39) M482V probably benign Het
Wdr72 T C 9: 74,086,788 (GRCm39) probably benign Het
Xirp2 T C 2: 67,340,021 (GRCm39) L754P probably damaging Het
Zmym6 G A 4: 127,017,899 (GRCm39) G1135S probably benign Het
Other mutations in F2rl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5229:F2rl2 UTSW 13 95,837,195 (GRCm39) missense possibly damaging 0.93
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
Posted On 2013-11-05