Incidental Mutation 'IGL02987:F2rl1'
ID 406753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F2rl1
Ensembl Gene ENSMUSG00000021678
Gene Name F2R like trypsin receptor 1
Synonyms Protease-activated receptor-2, coagulation factor II (thrombin) receptor-like 1, Par2, Gpcr11, proteinase-activated receptor-2, PAR-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02987
Quality Score
Chromosome 13
Chromosomal Location 95648240-95661735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95650741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 47 (Q47L)
Ref Sequence ENSEMBL: ENSMUSP00000022185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022185]
AlphaFold P55086
Predicted Effect probably benign
Transcript: ENSMUST00000022185
AA Change: Q47L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: Q47L

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
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 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 T C 13: 4,643,591 (GRCm39) D222G probably damaging Het
Apbb1ip T A 2: 22,757,649 (GRCm39) Y422* probably null Het
Asf1a T C 10: 53,473,367 (GRCm39) F28L probably damaging Het
Atp6v1c1 T A 15: 38,690,806 (GRCm39) M319K possibly damaging Het
Bsn A G 9: 108,003,503 (GRCm39) S301P probably benign Het
Cds1 A G 5: 101,960,391 (GRCm39) I281V possibly damaging Het
Col4a4 T C 1: 82,476,646 (GRCm39) probably benign Het
Coq2 G A 5: 100,811,554 (GRCm39) Q103* probably null Het
Dgkh A G 14: 78,827,312 (GRCm39) probably null Het
Dnah9 A G 11: 65,746,098 (GRCm39) I4005T probably damaging Het
Dnah9 C A 11: 65,732,099 (GRCm39) R4269L probably benign Het
Fhod3 T C 18: 25,246,610 (GRCm39) V1272A possibly damaging Het
Gdpd4 T C 7: 97,610,758 (GRCm39) probably benign Het
Gfral A G 9: 76,104,583 (GRCm39) V143A possibly damaging Het
Gltp A C 5: 114,812,243 (GRCm39) F88V probably benign Het
Hectd1 T G 12: 51,791,550 (GRCm39) K2565T probably damaging Het
Jade2 A G 11: 51,721,308 (GRCm39) S207P probably damaging Het
Khdc3 A G 9: 73,009,948 (GRCm39) I53V possibly damaging Het
Lce1a1 T C 3: 92,554,409 (GRCm39) T22A unknown Het
Lgals9 A T 11: 78,858,303 (GRCm39) H196Q possibly damaging Het
Lrrc37a A T 11: 103,391,239 (GRCm39) N1395K probably benign Het
Mast1 C T 8: 85,652,348 (GRCm39) V268I possibly damaging Het
Myh11 T G 16: 14,050,396 (GRCm39) E523A probably damaging Het
Napb T C 2: 148,539,431 (GRCm39) probably null Het
Nlrp4e G A 7: 23,000,858 (GRCm39) R51H probably damaging Het
Ola1 T C 2: 72,987,242 (GRCm39) D130G probably benign Het
Or8c13 A T 9: 38,091,919 (GRCm39) S67T possibly damaging Het
Pard3 G A 8: 128,115,972 (GRCm39) C687Y probably damaging Het
Rassf9 A G 10: 102,381,109 (GRCm39) T164A possibly damaging Het
Sema3a A G 5: 13,615,863 (GRCm39) Y429C probably damaging Het
Slc25a54 T C 3: 109,023,653 (GRCm39) V416A probably benign Het
Slc30a5 T C 13: 100,940,423 (GRCm39) T631A probably damaging Het
Sorl1 A T 9: 41,952,349 (GRCm39) C736S probably damaging Het
Tet3 A T 6: 83,345,074 (GRCm39) S1788T probably damaging Het
Trim42 A G 9: 97,247,868 (GRCm39) V276A probably benign Het
Other mutations in F2rl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:F2rl1 APN 13 95,650,261 (GRCm39) missense probably benign 0.03
IGL01996:F2rl1 APN 13 95,650,432 (GRCm39) missense probably damaging 1.00
IGL03053:F2rl1 APN 13 95,650,126 (GRCm39) missense probably benign 0.03
IGL03290:F2rl1 APN 13 95,650,097 (GRCm39) missense possibly damaging 0.89
PIT4382001:F2rl1 UTSW 13 95,650,154 (GRCm39) missense probably benign 0.00
R2005:F2rl1 UTSW 13 95,649,782 (GRCm39) missense probably damaging 1.00
R3794:F2rl1 UTSW 13 95,649,719 (GRCm39) missense unknown
R4236:F2rl1 UTSW 13 95,649,796 (GRCm39) missense probably damaging 1.00
R4715:F2rl1 UTSW 13 95,649,775 (GRCm39) missense probably damaging 0.99
R4741:F2rl1 UTSW 13 95,650,651 (GRCm39) missense probably damaging 1.00
R4799:F2rl1 UTSW 13 95,650,477 (GRCm39) missense possibly damaging 0.81
R4870:F2rl1 UTSW 13 95,650,492 (GRCm39) missense probably damaging 0.99
R5992:F2rl1 UTSW 13 95,650,778 (GRCm39) missense probably benign 0.01
R6276:F2rl1 UTSW 13 95,650,446 (GRCm39) nonsense probably null
R7568:F2rl1 UTSW 13 95,650,522 (GRCm39) missense probably damaging 1.00
R7761:F2rl1 UTSW 13 95,650,382 (GRCm39) missense probably damaging 1.00
R8087:F2rl1 UTSW 13 95,650,507 (GRCm39) missense probably damaging 1.00
R8281:F2rl1 UTSW 13 95,650,585 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02