Incidental Mutation 'R6276:F2rl1'
ID 507666
Institutional Source Beutler Lab
Gene Symbol F2rl1
Ensembl Gene ENSMUSG00000021678
Gene Name coagulation factor II (thrombin) receptor-like 1
Synonyms proteinase-activated receptor-2, PAR-2, Par2, Gpcr11, Protease-activated receptor-2
MMRRC Submission 044446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6276 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 95511732-95525227 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 95513938 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 145 (Y145*)
Ref Sequence ENSEMBL: ENSMUSP00000022185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022185]
AlphaFold P55086
Predicted Effect probably null
Transcript: ENSMUST00000022185
AA Change: Y145*
SMART Domains Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: Y145*

signal peptide 1 18 N/A INTRINSIC
Pfam:7TM_GPCR_Srv 75 363 3.8e-12 PFAM
Pfam:7TM_GPCR_Srw 82 364 1.2e-10 PFAM
Pfam:7tm_1 94 346 1.5e-42 PFAM
low complexity region 375 398 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (71/71)
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 G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]
PHENOTYPE: Nullizygous mice may exhibit impaired leukocyte rolling and dendritic cell maturation, altered inflammatory response in various models of acute and chronic inflammatory disease, altered susceptibility to injury and to autoimmune disorders, and abnormal hemodynamic responses and pain thresholds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930504O13Rik T A 11: 58,446,366 (GRCm38) I94L possibly damaging Het
4931406P16Rik A T 7: 34,242,377 (GRCm38) Y627* probably null Het
Actr3 A T 1: 125,395,137 (GRCm38) D364E probably benign Het
Adra2c C T 5: 35,280,079 (GRCm38) T65I probably damaging Het
Agap2 T A 10: 127,089,360 (GRCm38) probably null Het
Ager T C 17: 34,598,754 (GRCm38) V126A possibly damaging Het
Arhgap39 T C 15: 76,737,536 (GRCm38) I288M probably benign Het
Arhgap45 A T 10: 80,026,234 (GRCm38) S541C probably benign Het
Asb4 A G 6: 5,431,043 (GRCm38) Y426C probably damaging Het
Azi2 C T 9: 118,049,338 (GRCm38) T82I probably damaging Het
Baz2b T A 2: 59,948,223 (GRCm38) R764S probably damaging Het
Ccdc146 A C 5: 21,301,340 (GRCm38) I701S probably damaging Het
Cd55b T A 1: 130,418,166 (GRCm38) I172F probably damaging Het
Cdk11b A G 4: 155,634,190 (GRCm38) E199G probably benign Het
Cntnap4 A T 8: 112,752,289 (GRCm38) T216S possibly damaging Het
D5Ertd579e A T 5: 36,604,514 (GRCm38) N1336K possibly damaging Het
Dlg5 T C 14: 24,164,568 (GRCm38) N649S probably damaging Het
Dmxl1 A G 18: 49,846,586 (GRCm38) E96G probably benign Het
Dscaml1 C T 9: 45,668,160 (GRCm38) T335I possibly damaging Het
Epb41l2 G T 10: 25,502,124 (GRCm38) G695C probably damaging Het
Erbb4 C T 1: 68,560,576 (GRCm38) R114H probably damaging Het
Fam58b T C 11: 78,751,230 (GRCm38) K145E probably damaging Het
Fsip2 A T 2: 82,980,441 (GRCm38) Y2368F possibly damaging Het
Galnt7 C T 8: 57,536,578 (GRCm38) probably null Het
Gm6811 T A 17: 21,093,983 (GRCm38) noncoding transcript Het
Gm6811 T G 17: 21,094,690 (GRCm38) noncoding transcript Het
H2-M1 G A 17: 36,671,710 (GRCm38) T86M possibly damaging Het
Hk2 T C 6: 82,743,366 (GRCm38) D170G probably benign Het
Hmcn1 C T 1: 150,738,681 (GRCm38) A1325T possibly damaging Het
Insrr T A 3: 87,800,519 (GRCm38) Y89* probably null Het
Itga1 T C 13: 114,980,852 (GRCm38) E871G probably benign Het
Kat6a T C 8: 22,939,405 (GRCm38) L1592P possibly damaging Het
Kndc1 C A 7: 139,921,063 (GRCm38) A756E probably benign Het
Krt12 A T 11: 99,421,902 (GRCm38) C105* probably null Het
Lama1 G A 17: 67,784,088 (GRCm38) probably null Het
Lama3 A G 18: 12,506,949 (GRCm38) N67S probably benign Het
Lrrk1 A G 7: 66,306,839 (GRCm38) probably null Het
Map2 T C 1: 66,399,419 (GRCm38) V34A probably damaging Het
Mroh6 A G 15: 75,885,700 (GRCm38) L487P probably damaging Het
Myo18b A T 5: 112,811,642 (GRCm38) S1430T probably benign Het
Notch3 G A 17: 32,154,749 (GRCm38) T495I probably benign Het
Olfr391-ps A T 11: 73,799,403 (GRCm38) M118K probably damaging Het
Palld C T 8: 61,513,423 (GRCm38) A980T probably damaging Het
Paxip1 A T 5: 27,761,668 (GRCm38) I620N probably damaging Het
Pcdha6 A G 18: 36,969,767 (GRCm38) probably null Het
Pcdhb11 G A 18: 37,421,760 (GRCm38) V48M probably benign Het
Pcdhga6 A G 18: 37,707,644 (GRCm38) E139G probably benign Het
Pck1 T C 2: 173,157,319 (GRCm38) V426A probably damaging Het
Pck2 T A 14: 55,542,624 (GRCm38) I110N probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm38) probably benign Het
Phactr3 G A 2: 178,279,019 (GRCm38) E222K probably damaging Het
Ppip5k1 A T 2: 121,323,203 (GRCm38) probably benign Het
Prodh2 A G 7: 30,506,651 (GRCm38) H278R probably benign Het
Rspry1 T A 8: 94,623,258 (GRCm38) H91Q probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,403,480 (GRCm38) probably benign Het
Smn1 A G 13: 100,127,995 (GRCm38) N78S possibly damaging Het
Spta1 T A 1: 174,218,512 (GRCm38) I1614N probably damaging Het
Syt17 T C 7: 118,434,290 (GRCm38) D165G probably damaging Het
Tbck A G 3: 132,743,005 (GRCm38) Y593C probably damaging Het
Tcaf2 G C 6: 42,629,753 (GRCm38) F422L probably benign Het
Tex15 T A 8: 33,577,189 (GRCm38) F2216I possibly damaging Het
Trpc4 A G 3: 54,318,020 (GRCm38) E846G probably benign Het
Ttc41 T C 10: 86,744,449 (GRCm38) I753T probably benign Het
Vdac1 C T 11: 52,376,482 (GRCm38) T70M possibly damaging Het
Vmn1r124 A C 7: 21,260,179 (GRCm38) F147V probably benign Het
Vmn1r220 T C 13: 23,184,295 (GRCm38) D77G probably damaging Het
Vmn2r28 T C 7: 5,490,731 (GRCm38) H72R probably benign Het
Vmn2r78 A T 7: 86,921,110 (GRCm38) I279L probably benign Het
Vmn2r95 G T 17: 18,451,470 (GRCm38) A490S possibly damaging Het
Wdfy4 C T 14: 33,109,525 (GRCm38) A915T possibly damaging Het
Zmiz2 G T 11: 6,395,604 (GRCm38) probably null Het
Zscan2 A G 7: 80,875,809 (GRCm38) N426S probably benign Het
Other mutations in F2rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:F2rl1 APN 13 95,513,753 (GRCm38) missense probably benign 0.03
IGL01996:F2rl1 APN 13 95,513,924 (GRCm38) missense probably damaging 1.00
IGL02987:F2rl1 APN 13 95,514,233 (GRCm38) missense probably benign 0.00
IGL03053:F2rl1 APN 13 95,513,618 (GRCm38) missense probably benign 0.03
IGL03290:F2rl1 APN 13 95,513,589 (GRCm38) missense possibly damaging 0.89
PIT4382001:F2rl1 UTSW 13 95,513,646 (GRCm38) missense probably benign 0.00
R2005:F2rl1 UTSW 13 95,513,274 (GRCm38) missense probably damaging 1.00
R3794:F2rl1 UTSW 13 95,513,211 (GRCm38) missense unknown
R4236:F2rl1 UTSW 13 95,513,288 (GRCm38) missense probably damaging 1.00
R4715:F2rl1 UTSW 13 95,513,267 (GRCm38) missense probably damaging 0.99
R4741:F2rl1 UTSW 13 95,514,143 (GRCm38) missense probably damaging 1.00
R4799:F2rl1 UTSW 13 95,513,969 (GRCm38) missense possibly damaging 0.81
R4870:F2rl1 UTSW 13 95,513,984 (GRCm38) missense probably damaging 0.99
R5992:F2rl1 UTSW 13 95,514,270 (GRCm38) missense probably benign 0.01
R7568:F2rl1 UTSW 13 95,514,014 (GRCm38) missense probably damaging 1.00
R7761:F2rl1 UTSW 13 95,513,874 (GRCm38) missense probably damaging 1.00
R8087:F2rl1 UTSW 13 95,513,999 (GRCm38) missense probably damaging 1.00
R8281:F2rl1 UTSW 13 95,514,077 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-03-15