Incidental Mutation 'R7568:F2rl1'
ID 585599
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 045630-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95511732-95525227 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95514014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 120 (A120V)
Ref Sequence ENSEMBL: ENSMUSP00000022185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022185]
AlphaFold P55086
Predicted Effect probably damaging
Transcript: ENSMUST00000022185
AA Change: A120V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: A120V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik T C 16: 38,828,447 (GRCm38) E100G possibly damaging Het
Actbl2 T A 13: 111,255,422 (GRCm38) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm38) T342S probably damaging Het
Alcam A G 16: 52,268,386 (GRCm38) S554P probably damaging Het
Ano3 T C 2: 110,950,293 (GRCm38) probably benign Het
Atad2b T A 12: 5,010,390 (GRCm38) probably null Het
Baz2a T C 10: 128,125,270 (GRCm38) S1621P possibly damaging Het
Best1 T A 19: 9,989,275 (GRCm38) probably null Het
Catip G T 1: 74,368,930 (GRCm38) E474* probably null Het
Comp A G 8: 70,373,859 (GRCm38) D28G probably benign Het
Crebbp G A 16: 4,126,489 (GRCm38) R600W probably benign Het
Cyfip1 A G 7: 55,872,249 (GRCm38) probably null Het
Ddr1 A G 17: 35,684,282 (GRCm38) S675P probably damaging Het
Dhtkd1 A T 2: 5,922,087 (GRCm38) probably null Het
Fam136a A G 6: 86,365,802 (GRCm38) N24D probably benign Het
Fbxw10 C A 11: 62,875,168 (GRCm38) Q755K probably benign Het
Fbxw16 C A 9: 109,439,589 (GRCm38) Q244H possibly damaging Het
Gabrg2 T C 11: 41,916,292 (GRCm38) K373E probably benign Het
Herc3 G A 6: 58,843,810 (GRCm38) V60I probably benign Het
Igkv19-93 T A 6: 68,736,493 (GRCm38) K51* probably null Het
Krt23 T A 11: 99,492,800 (GRCm38) K89* probably null Het
Mavs A G 2: 131,245,475 (GRCm38) T298A probably benign Het
Mlec T C 5: 115,150,122 (GRCm38) Y198C probably damaging Het
Ncam2 C A 16: 81,589,801 (GRCm38) N689K probably benign Het
Nfkbia A G 12: 55,491,761 (GRCm38) I82T probably damaging Het
Olfr104-ps A G 17: 37,362,605 (GRCm38) I163V probably benign Het
Olfr1351 A T 10: 79,017,507 (GRCm38) I62F probably benign Het
Olfr527 A G 7: 140,335,982 (GRCm38) N40S probably damaging Het
Olfr902 A G 9: 38,449,646 (GRCm38) Y258C probably damaging Het
Pom121l2 A T 13: 21,982,626 (GRCm38) I356F probably benign Het
Ppip5k1 A T 2: 121,337,615 (GRCm38) L719Q probably damaging Het
Satb1 A T 17: 51,782,724 (GRCm38) V365D possibly damaging Het
Scrn2 T C 11: 97,030,886 (GRCm38) Y61H probably damaging Het
Siglec1 C T 2: 131,072,682 (GRCm38) V1505M probably damaging Het
Slc2a10 A G 2: 165,514,882 (GRCm38) N154S probably damaging Het
Slc39a10 A T 1: 46,835,130 (GRCm38) H337Q probably benign Het
Slc39a12 T A 2: 14,400,128 (GRCm38) probably null Het
Slc6a6 T G 6: 91,724,851 (GRCm38) L80R probably damaging Het
Slit1 T C 19: 41,601,635 (GRCm38) Y1404C probably damaging Het
Sowahc A G 10: 59,223,299 (GRCm38) E419G probably damaging Het
Ssh1 T C 5: 113,957,380 (GRCm38) probably null Het
Stab1 C A 14: 31,152,595 (GRCm38) C952F probably damaging Het
Stat5a T C 11: 100,875,024 (GRCm38) M312T possibly damaging Het
Tex2 A G 11: 106,548,736 (GRCm38) I606T unknown Het
Vmn1r19 A G 6: 57,404,828 (GRCm38) H122R possibly damaging Het
Zfp959 A G 17: 55,897,886 (GRCm38) I308V 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
R6276:F2rl1 UTSW 13 95,513,938 (GRCm38) nonsense probably null
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 2019-10-17