Incidental Mutation 'R4741:F2rl1'
ID 358099
Institutional Source Beutler Lab
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
MMRRC Submission 042026-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4741 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 95648240-95661735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95650651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 77 (T77M)
Ref Sequence ENSEMBL: ENSMUSP00000022185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022185]
AlphaFold P55086
Predicted Effect probably damaging
Transcript: ENSMUST00000022185
AA Change: T77M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: T77M

DomainStartEndE-ValueType
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl2 T C 2: 33,136,200 (GRCm39) Y462H probably benign Het
Arhgef12 A G 9: 42,883,449 (GRCm39) I1360T possibly damaging Het
Armc10 T G 5: 21,856,834 (GRCm39) L111R probably damaging Het
Atm T C 9: 53,364,907 (GRCm39) K2628E probably benign Het
Best3 A T 10: 116,859,901 (GRCm39) N387I probably benign Het
Bltp1 A G 3: 36,996,524 (GRCm39) T1079A probably damaging Het
Brpf3 T C 17: 29,036,758 (GRCm39) F721S possibly damaging Het
Cacna1c A G 6: 118,590,271 (GRCm39) S1411P probably damaging Het
Cldn8 G A 16: 88,359,296 (GRCm39) H210Y probably benign Het
Clip2 T A 5: 134,545,123 (GRCm39) T344S probably benign Het
Csmd1 A C 8: 15,960,447 (GRCm39) W3323G probably damaging Het
Doc2a A T 7: 126,450,617 (GRCm39) T298S possibly damaging Het
Dpp9 T C 17: 56,512,286 (GRCm39) N234S probably benign Het
Dtx2 C T 5: 136,055,371 (GRCm39) R353C probably benign Het
Epm2aip1 A G 9: 111,101,681 (GRCm39) H218R probably benign Het
Fsd2 A G 7: 81,201,643 (GRCm39) probably null Het
Grin2a T C 16: 9,481,376 (GRCm39) Y475C probably damaging Het
H2-Ob T A 17: 34,461,545 (GRCm39) S95T possibly damaging Het
Hddc3 A G 7: 79,995,464 (GRCm39) T160A probably benign Het
Hp A T 8: 110,302,104 (GRCm39) C281* probably null Het
Ighg1 T C 12: 113,290,178 (GRCm39) probably benign Het
Ints7 A G 1: 191,351,747 (GRCm39) I819V probably benign Het
Jam2 G A 16: 84,609,840 (GRCm39) V151M probably damaging Het
Jmjd1c A G 10: 67,060,718 (GRCm39) I737V possibly damaging Het
Krt74 C T 15: 101,669,876 (GRCm39) noncoding transcript Het
Lnpep T C 17: 17,791,920 (GRCm39) Y407C probably damaging Het
Lrp4 T G 2: 91,341,912 (GRCm39) C1842G probably damaging Het
Mug2 T A 6: 122,056,572 (GRCm39) N1172K probably benign Het
Npy6r A T 18: 44,408,791 (GRCm39) T71S probably damaging Het
Nsd3 A T 8: 26,163,382 (GRCm39) I591F probably damaging Het
Oog2 A C 4: 143,921,715 (GRCm39) E208D possibly damaging Het
Otogl A G 10: 107,615,121 (GRCm39) I1928T probably benign Het
Papss1 T C 3: 131,324,860 (GRCm39) L418P probably damaging Het
Pcdhb13 T A 18: 37,576,571 (GRCm39) D316E probably benign Het
Pcdhgb2 T A 18: 37,824,737 (GRCm39) probably null Het
Ptcd3 T A 6: 71,879,933 (GRCm39) L108F probably damaging Het
Ralgps1 T C 2: 33,226,599 (GRCm39) S31G probably benign Het
Rnf225 A T 7: 12,661,857 (GRCm39) H12L probably benign Het
Ryr3 T A 2: 112,633,613 (GRCm39) M2047L probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb3b G T 1: 107,082,200 (GRCm39) Q355K probably benign Het
Slc8a2 T A 7: 15,868,233 (GRCm39) F155Y probably damaging Het
Taf1c A G 8: 120,330,134 (GRCm39) probably benign Het
Tln2 A G 9: 67,293,837 (GRCm39) probably null Het
Tmpo A G 10: 90,998,506 (GRCm39) V427A probably benign Het
Vmn1r17 A T 6: 57,338,337 (GRCm39) Y9* probably null Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfand5 C T 19: 21,253,845 (GRCm39) T16I probably damaging Het
Zfp352 A T 4: 90,113,177 (GRCm39) K439M possibly damaging Het
Zfp786 G A 6: 47,797,625 (GRCm39) H438Y probably damaging Het
Zfp808 T A 13: 62,319,763 (GRCm39) C331S probably damaging 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
IGL02987:F2rl1 APN 13 95,650,741 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TAGACCCAGTTGTTGCCATG -3'
(R):5'- AGCCTTACTGTTGGACCATTTATC -3'

Sequencing Primer
(F):5'- CCATGTAGGTGGTAGGAGATCTTCAG -3'
(R):5'- ATCTCAGTAATGATTCTGCTCCG -3'
Posted On 2015-11-11