Incidental Mutation 'R4799:F2rl1'
ID 369372
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 041997-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4799 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 95648240-95661735 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95650477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 135 (S135F)
Ref Sequence ENSEMBL: ENSMUSP00000022185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022185]
AlphaFold P55086
Predicted Effect possibly damaging
Transcript: ENSMUST00000022185
AA Change: S135F

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: S135F

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 97% (122/126)
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: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b C G 12: 70,215,838 (GRCm39) S170C probably damaging Het
Acads T A 5: 115,251,149 (GRCm39) T112S probably benign Het
Adgrl1 A G 8: 84,662,202 (GRCm39) H1021R probably benign Het
Ago3 A T 4: 126,241,665 (GRCm39) probably null Het
Ap5m1 A G 14: 49,318,527 (GRCm39) K412E probably benign Het
Arid1b C T 17: 5,389,496 (GRCm39) P1681S probably damaging Het
Atxn10 T C 15: 85,260,909 (GRCm39) probably null Het
AU040320 A G 4: 126,733,462 (GRCm39) T661A probably benign Het
Bhmt1b C A 18: 87,774,573 (GRCm39) A32E probably damaging Het
Capn7 T C 14: 31,082,514 (GRCm39) I455M probably benign Het
Capzb A G 4: 138,920,310 (GRCm39) probably benign Het
Car10 G A 11: 93,469,492 (GRCm39) V156I possibly damaging Het
Cbs T A 17: 31,851,826 (GRCm39) D59V probably damaging Het
Ccar2 T C 14: 70,377,003 (GRCm39) E819G probably damaging Het
Cdc73 T A 1: 143,503,613 (GRCm39) Q346L probably benign Het
Cdhr4 T C 9: 107,875,898 (GRCm39) probably benign Het
Cfap251 C T 5: 123,440,835 (GRCm39) H1131Y probably benign Het
Chd2 A T 7: 73,134,184 (GRCm39) M721K possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Cps1 T C 1: 67,182,145 (GRCm39) Y120H probably damaging Het
Csf2 T C 11: 54,140,306 (GRCm39) D44G probably benign Het
Cubn T A 2: 13,291,835 (GRCm39) Q3330L possibly damaging Het
Cubn A G 2: 13,355,869 (GRCm39) S1788P probably damaging Het
Cul9 T C 17: 46,811,770 (GRCm39) D2486G possibly damaging Het
Cyp2c40 A T 19: 39,762,293 (GRCm39) S451R probably damaging Het
Cyp51 T A 5: 4,133,256 (GRCm39) T461S probably damaging Het
Cyth1 T C 11: 118,074,768 (GRCm39) M164V probably damaging Het
D130043K22Rik T C 13: 25,062,023 (GRCm39) I664T probably damaging Het
Ddc T C 11: 11,796,632 (GRCm39) probably null Het
Ddx21 A T 10: 62,423,900 (GRCm39) D589E probably damaging Het
Dgkb C T 12: 38,164,567 (GRCm39) R113C possibly damaging Het
Dglucy A T 12: 100,816,602 (GRCm39) M415L probably benign Het
Efnb2 A T 8: 8,673,104 (GRCm39) probably null Het
Elp4 T A 2: 105,639,612 (GRCm39) Q189L probably damaging Het
Enpp2 T C 15: 54,773,490 (GRCm39) N77S probably damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Fam133b T C 5: 3,607,815 (GRCm39) M65T probably damaging Het
Fanca A G 8: 124,014,941 (GRCm39) V689A probably damaging Het
Fbh1 C T 2: 11,760,558 (GRCm39) C79Y probably damaging Het
Fbxw7 C T 3: 84,811,168 (GRCm39) Q98* probably null Het
Flrt3 T C 2: 140,502,086 (GRCm39) N514S probably damaging Het
Foxj3 A T 4: 119,478,857 (GRCm39) S438C unknown Het
Gcm2 T C 13: 41,256,970 (GRCm39) K260E possibly damaging Het
Gm12863 C T 4: 118,811,685 (GRCm39) noncoding transcript Het
Gpnmb G T 6: 49,022,417 (GRCm39) probably null Het
Gsap C A 5: 21,455,941 (GRCm39) N379K probably benign Het
Hsd3b1 T A 3: 98,760,181 (GRCm39) Y270F probably benign Het
Ift70a2 T A 2: 75,807,729 (GRCm39) Y261F probably benign Het
Il22 C A 10: 118,041,058 (GRCm39) R55S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhdc3 T C 17: 46,988,226 (GRCm39) R180G possibly damaging Het
Lmbrd1 G A 1: 24,784,056 (GRCm39) probably null Het
Lrrcc1 C T 3: 14,601,156 (GRCm39) R63* probably null Het
Lyar A G 5: 38,382,123 (GRCm39) D35G probably damaging Het
Mbd4 C T 6: 115,822,283 (GRCm39) R442Q probably benign Het
Mib2 G T 4: 155,744,229 (GRCm39) S144R probably benign Het
Mms22l A T 4: 24,580,052 (GRCm39) probably null Het
Mtmr3 G A 11: 4,437,764 (GRCm39) H897Y probably benign Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nap1l4 A T 7: 143,088,200 (GRCm39) probably null Het
Ncor2 A T 5: 125,114,124 (GRCm39) probably null Het
Ndufa7 T C 17: 34,057,187 (GRCm39) probably benign Het
Ndufs1 C A 1: 63,200,108 (GRCm39) G268V probably damaging Het
Nfs1 A G 2: 155,976,369 (GRCm39) V175A possibly damaging Het
Obsl1 C A 1: 75,466,145 (GRCm39) A1528S possibly damaging Het
Or2z8 A G 8: 72,811,938 (GRCm39) N138S probably benign Het
Or4a79 C T 2: 89,551,706 (GRCm39) V250I probably benign Het
Or52z1 A T 7: 103,436,688 (GRCm39) F265L possibly damaging Het
Or7a42 T G 10: 78,791,931 (GRCm39) D297E probably null Het
Or8k39 C T 2: 86,563,018 (GRCm39) probably null Het
Pcdhb8 A G 18: 37,488,706 (GRCm39) D128G probably damaging Het
Pkp4 A T 2: 59,172,449 (GRCm39) I522F probably damaging Het
Plod3 G A 5: 137,019,654 (GRCm39) A398T probably benign Het
Pou4f3 A G 18: 42,529,052 (GRCm39) M332V possibly damaging Het
Prox1 A G 1: 189,885,669 (GRCm39) F593L probably damaging Het
Prrc2a G A 17: 35,369,018 (GRCm39) P2006L probably damaging Het
Prss50 A G 9: 110,692,864 (GRCm39) D328G probably damaging Het
Psmd6 C T 14: 14,120,126 (GRCm38) S71N probably benign Het
Ptprd A G 4: 76,009,769 (GRCm39) I764T probably benign Het
Ptprr C T 10: 115,884,123 (GRCm39) A60V probably benign Het
Raet1e T A 10: 22,057,199 (GRCm39) D174E probably damaging Het
Rbfox2 T C 15: 76,976,018 (GRCm39) I308M probably benign Het
Rnf20 G C 4: 49,649,962 (GRCm39) probably null Het
Rpap2 A T 5: 107,768,113 (GRCm39) H317L probably benign Het
Rsph6a T A 7: 18,799,783 (GRCm39) Y471* probably null Het
Sdhb A G 4: 140,704,777 (GRCm39) H246R possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Sin3b A C 8: 73,452,271 (GRCm39) I126L probably benign Het
Skint2 G A 4: 112,509,305 (GRCm39) A363T probably benign Het
Slc22a30 A G 19: 8,321,768 (GRCm39) I432T probably benign Het
Slc2a2 G A 3: 28,771,681 (GRCm39) probably null Het
Slco1a5 T C 6: 142,194,533 (GRCm39) Y370C possibly damaging Het
Sltm A G 9: 70,496,339 (GRCm39) H958R probably damaging Het
Smpdl3a C T 10: 57,684,111 (GRCm39) H290Y probably damaging Het
Snrnp40 A G 4: 130,256,549 (GRCm39) I91M probably damaging Het
Spag9 A T 11: 93,939,342 (GRCm39) K90N possibly damaging Het
Spag9 T A 11: 93,939,343 (GRCm39) F91I probably damaging Het
Stox1 A C 10: 62,501,516 (GRCm39) I348S probably damaging Het
Sult1e1 A G 5: 87,738,027 (GRCm39) V18A possibly damaging Het
Syne2 A G 12: 75,945,941 (GRCm39) M338V probably benign Het
Tbc1d23 T A 16: 57,012,991 (GRCm39) Q327L probably benign Het
Terf2 G T 8: 107,803,307 (GRCm39) H425Q probably benign Het
Timd2 A T 11: 46,568,094 (GRCm39) Y233* probably null Het
Tmem39a A G 16: 38,411,524 (GRCm39) probably benign Het
Trappc10 T C 10: 78,037,424 (GRCm39) D793G possibly damaging Het
Ugt1a10 TAAAAAAAAA TAAAAAAA 1: 88,143,650 (GRCm39) probably benign Het
Unc93a T C 17: 13,339,782 (GRCm39) probably null Het
Utrn T C 10: 12,625,813 (GRCm39) T123A probably damaging Het
Vmn1r171 T C 7: 23,332,369 (GRCm39) I198T probably benign Het
Vmn1r213 T A 13: 23,196,016 (GRCm39) S200T probably damaging Het
Vmn2r108 T A 17: 20,682,891 (GRCm39) D771V probably damaging Het
Wls C T 3: 159,603,082 (GRCm39) T165I probably benign Het
Zc3h13 G A 14: 75,576,863 (GRCm39) C1657Y probably damaging Het
Zdhhc5 T C 2: 84,523,775 (GRCm39) K224E probably damaging Het
Zfp54 T A 17: 21,654,402 (GRCm39) Y299N probably damaging Het
Zfp820 A T 17: 22,037,966 (GRCm39) L454Q probably benign Het
Zfp960 T A 17: 17,308,698 (GRCm39) F471I probably damaging Het
Zswim5 A G 4: 116,830,169 (GRCm39) I515V probably benign Het
Zzef1 G T 11: 72,750,449 (GRCm39) S919I 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
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
R4741:F2rl1 UTSW 13 95,650,651 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2016-02-04