Incidental Mutation 'IGL03290:F2rl1'
ID 415872
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03290
Quality Score
Status
Chromosome 13
Chromosomal Location 95511732-95525227 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95513589 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 262 (S262P)
Ref Sequence ENSEMBL: ENSMUSP00000022185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022185]
AlphaFold P55086
Predicted Effect possibly damaging
Transcript: ENSMUST00000022185
AA Change: S262P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022185
Gene: ENSMUSG00000021678
AA Change: S262P

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,703,423 (GRCm38) probably benign Het
Asb18 A G 1: 90,014,574 (GRCm38) S2P probably damaging Het
Atp2b2 A G 6: 113,793,754 (GRCm38) F398S probably damaging Het
BC034090 T G 1: 155,226,110 (GRCm38) D136A probably damaging Het
Ces5a A C 8: 93,519,632 (GRCm38) F310V probably damaging Het
Chsy1 T C 7: 66,171,031 (GRCm38) V338A probably benign Het
Dbh A G 2: 27,174,932 (GRCm38) E385G probably damaging Het
Dnah14 T A 1: 181,763,978 (GRCm38) probably benign Het
Fat2 T C 11: 55,256,219 (GRCm38) N3984D probably benign Het
Fbxo38 A T 18: 62,526,163 (GRCm38) H354Q probably benign Het
Fgf6 T A 6: 127,024,132 (GRCm38) V201D probably damaging Het
Gm16181 A T 17: 35,223,957 (GRCm38) probably benign Het
Gm6811 T C 17: 21,094,049 (GRCm38) noncoding transcript Het
Gna11 A G 10: 81,530,937 (GRCm38) F313S probably damaging Het
Gprc6a C T 10: 51,615,872 (GRCm38) A523T probably damaging Het
Il22 T C 10: 118,205,880 (GRCm38) probably null Het
Insr T C 8: 3,258,574 (GRCm38) Y154C probably damaging Het
Irak4 T A 15: 94,551,899 (GRCm38) D86E probably benign Het
Itk C A 11: 46,334,937 (GRCm38) W529L probably damaging Het
Klhl6 C A 16: 19,947,137 (GRCm38) A572S probably benign Het
Ldhc C T 7: 46,869,688 (GRCm38) R112C probably damaging Het
Lrrc56 T C 7: 141,199,772 (GRCm38) probably benign Het
Mdh2 A G 5: 135,789,713 (GRCm38) E274G probably damaging Het
N4bp1 G T 8: 86,848,533 (GRCm38) D711E probably benign Het
Ngly1 T A 14: 16,281,866 (GRCm38) I248K probably damaging Het
Olfr324 A G 11: 58,598,323 (GRCm38) N309S probably damaging Het
Olfr872 T C 9: 20,260,260 (GRCm38) I140T probably damaging Het
Pbrm1 A G 14: 31,107,284 (GRCm38) E1421G probably damaging Het
Pcca G A 14: 122,585,106 (GRCm38) R112H possibly damaging Het
Pgrmc2 T C 3: 41,068,626 (GRCm38) probably benign Het
Podnl1 G A 8: 84,132,189 (GRCm38) V548I probably benign Het
Pogz A T 3: 94,875,091 (GRCm38) probably benign Het
Ppp1r3a A G 6: 14,754,772 (GRCm38) Y159H probably damaging Het
Rax T C 18: 65,938,160 (GRCm38) K135E probably damaging Het
Rbm7 T A 9: 48,489,967 (GRCm38) M154L probably benign Het
Rp1 A G 1: 4,350,041 (GRCm38) S283P probably damaging Het
Rpusd4 T C 9: 35,267,977 (GRCm38) S30P probably benign Het
Samd13 T C 3: 146,646,315 (GRCm38) T75A probably benign Het
Sfxn4 A G 19: 60,860,070 (GRCm38) W22R probably damaging Het
Sh3pxd2a T A 19: 47,424,516 (GRCm38) R43W probably damaging Het
Smc5 A G 19: 23,273,658 (GRCm38) V54A probably benign Het
Snap47 A G 11: 59,428,598 (GRCm38) I238T probably damaging Het
Tecpr2 T G 12: 110,967,833 (GRCm38) I1309S possibly damaging Het
Trappc8 A G 18: 20,820,935 (GRCm38) L1310P probably damaging Het
Vmn2r61 T A 7: 42,265,984 (GRCm38) H118Q probably benign Het
Zbtb17 C T 4: 141,466,933 (GRCm38) T731I probably damaging Het
Zfp287 A G 11: 62,715,236 (GRCm38) F282L probably damaging 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
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
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
Posted On 2016-08-02