Incidental Mutation 'R6384:F11r'
ID 515482
Institutional Source Beutler Lab
Gene Symbol F11r
Ensembl Gene ENSMUSG00000038235
Gene Name F11 receptor
Synonyms JAM-A, Jcam1, Ly106, BV11 antigen, ESTM33, JAM-1
MMRRC Submission 044533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R6384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171265129-171292161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171288508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 117 (N117S)
Ref Sequence ENSEMBL: ENSMUSP00000041907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043839]
AlphaFold O88792
PDB Structure SOLUBLE PART OF THE JUNCTION ADHESION MOLECULE FROM MOUSE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000043839
AA Change: N117S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: N117S

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IGv 44 110 9.93e-8 SMART
IGc2 143 219 1.82e-6 SMART
transmembrane domain 239 261 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155913
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased dendritic cell migratory ability and contact hypersensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,790,066 (GRCm39) T97S probably benign Het
Adam34 T A 8: 44,103,836 (GRCm39) D603V probably benign Het
Adamts5 C T 16: 85,659,716 (GRCm39) V859I probably benign Het
Alb T A 5: 90,620,499 (GRCm39) D536E possibly damaging Het
Amz2 A G 11: 109,319,860 (GRCm39) Y82C probably damaging Het
Asxl1 T C 2: 153,233,744 (GRCm39) probably null Het
Bach1 C T 16: 87,516,745 (GRCm39) Q429* probably null Het
Bcl6 A G 16: 23,793,615 (GRCm39) Y111H probably damaging Het
Ccnj T C 19: 40,834,451 (GRCm39) V338A probably benign Het
Cdca3 C T 6: 124,809,382 (GRCm39) P174L probably damaging Het
Cdk17 T C 10: 93,047,827 (GRCm39) L25P probably damaging Het
Cdr2 G A 7: 120,581,351 (GRCm39) probably null Het
Cyp2c38 A T 19: 39,380,737 (GRCm39) probably null Het
Ednra T C 8: 78,415,723 (GRCm39) N175D probably damaging Het
Elp3 T C 14: 65,797,660 (GRCm39) Y337C probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Eps15l1 A T 8: 73,122,554 (GRCm39) probably null Het
Foxp2 C T 6: 15,437,947 (GRCm39) T716I probably damaging Het
Gnaq A G 19: 16,293,377 (GRCm39) probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr158 T C 2: 21,831,099 (GRCm39) M733T probably damaging Het
Hdac7 G A 15: 97,709,387 (GRCm39) Q48* probably null Het
Hmga2 G A 10: 120,206,612 (GRCm39) probably benign Het
Itgb7 A G 15: 102,132,886 (GRCm39) V142A probably benign Het
Kif5a T C 10: 127,078,644 (GRCm39) N334D probably damaging Het
Lrrc47 T C 4: 154,100,317 (GRCm39) S298P probably benign Het
Map3k1 A T 13: 111,887,064 (GRCm39) S1415R probably damaging Het
Mdn1 T A 4: 32,670,607 (GRCm39) L424Q probably damaging Het
Numb A C 12: 83,850,748 (GRCm39) L154R probably damaging Het
Or8g27 T C 9: 39,129,274 (GRCm39) V207A probably benign Het
Or8k30 A G 2: 86,339,381 (GRCm39) K193E probably benign Het
Pdcd5 G T 7: 35,346,334 (GRCm39) A92E possibly damaging Het
Pdcl2 C T 5: 76,478,855 (GRCm39) probably null Het
Rbfa T C 18: 80,235,996 (GRCm39) Y251C probably damaging Het
Rgsl1 G A 1: 153,703,291 (GRCm39) T120I possibly damaging Het
Serpina3g A G 12: 104,206,655 (GRCm39) Q152R probably null Het
Setx T C 2: 29,063,570 (GRCm39) S2289P probably damaging Het
Slc6a16 A G 7: 44,907,017 (GRCm39) probably null Het
Slco1a6 C T 6: 142,055,105 (GRCm39) D280N probably benign Het
Syde2 T A 3: 145,704,568 (GRCm39) Y240N probably damaging Het
Synpo2 G A 3: 122,906,698 (GRCm39) Q873* probably null Het
Tlr2 A G 3: 83,744,301 (GRCm39) V594A probably benign Het
Ttc16 C T 2: 32,657,561 (GRCm39) A512T probably damaging Het
Tubb5 T C 17: 36,148,938 (GRCm39) E3G probably damaging Het
Vmn2r112 T C 17: 22,824,136 (GRCm39) Y464H probably damaging Het
Xcr1 T A 9: 123,684,847 (GRCm39) H305L probably damaging Het
Yars1 T G 4: 129,090,771 (GRCm39) probably null Het
Other mutations in F11r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00771:F11r APN 1 171,290,510 (GRCm39) critical splice donor site probably null
IGL01431:F11r APN 1 171,290,477 (GRCm39) missense probably damaging 1.00
R0481:F11r UTSW 1 171,288,847 (GRCm39) missense probably benign 0.02
R0486:F11r UTSW 1 171,288,156 (GRCm39) missense probably damaging 1.00
R1944:F11r UTSW 1 171,289,459 (GRCm39) missense probably damaging 1.00
R1984:F11r UTSW 1 171,289,438 (GRCm39) missense probably benign 0.02
R2423:F11r UTSW 1 171,289,191 (GRCm39) missense possibly damaging 0.89
R3545:F11r UTSW 1 171,288,829 (GRCm39) missense probably damaging 1.00
R3840:F11r UTSW 1 171,288,457 (GRCm39) missense probably damaging 1.00
R3841:F11r UTSW 1 171,288,457 (GRCm39) missense probably damaging 1.00
R4007:F11r UTSW 1 171,288,916 (GRCm39) missense probably benign 0.35
R4744:F11r UTSW 1 171,288,166 (GRCm39) missense probably benign 0.00
R4775:F11r UTSW 1 171,289,209 (GRCm39) missense probably damaging 1.00
R8052:F11r UTSW 1 171,289,191 (GRCm39) missense possibly damaging 0.89
R8215:F11r UTSW 1 171,290,656 (GRCm39) makesense probably null
R8217:F11r UTSW 1 171,290,656 (GRCm39) makesense probably null
R8377:F11r UTSW 1 171,265,111 (GRCm39) start gained probably benign
R8963:F11r UTSW 1 171,288,505 (GRCm39) missense probably benign 0.11
R9154:F11r UTSW 1 171,289,376 (GRCm39) missense probably damaging 1.00
RF063:F11r UTSW 1 171,288,758 (GRCm39) critical splice acceptor site probably benign
Predicted Primers PCR Primer
(F):5'- TCCCTTCAGTGGAGGATGAAG -3'
(R):5'- GTACACACGTGTAGGTAAGAAACC -3'

Sequencing Primer
(F):5'- AAGAATGTGTCTTTCGGGCC -3'
(R):5'- AGAATGATAGTCTCAACCAATCAGAG -3'
Posted On 2018-05-04