Incidental Mutation 'R4007:F11r'
ID 311500
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 041610-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R4007 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 171265129-171292161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171288916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 178 (K178R)
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: K178R

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: K178R

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
Meta Mutation Damage Score 0.0984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 98% (49/50)
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
A1cf T C 19: 31,895,524 (GRCm39) probably null Het
Aff1 A T 5: 103,932,088 (GRCm39) K243N probably benign Het
Aknad1 T C 3: 108,682,598 (GRCm39) I558T probably benign Het
Ampd1 A G 3: 102,999,776 (GRCm39) I460V probably damaging Het
Atp10b A T 11: 43,150,679 (GRCm39) H1459L probably benign Het
Card9 T A 2: 26,243,012 (GRCm39) R459W possibly damaging Het
Chd3 A T 11: 69,239,827 (GRCm39) I1667N probably benign Het
Col6a3 A G 1: 90,730,291 (GRCm39) S1672P probably damaging Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dhx37 G A 5: 125,501,995 (GRCm39) probably benign Het
Dnah1 T C 14: 31,025,741 (GRCm39) probably benign Het
Elp1 G A 4: 56,794,139 (GRCm39) T168I probably damaging Het
Erbb4 C A 1: 68,779,560 (GRCm39) R72L probably damaging Het
Fan1 A G 7: 64,016,309 (GRCm39) L605P probably damaging Het
Fcna A G 2: 25,516,018 (GRCm39) probably null Het
Filip1 A G 9: 79,726,009 (GRCm39) I870T possibly damaging Het
Gm11595 C T 11: 99,662,861 (GRCm39) C273Y unknown Het
Gml T A 15: 74,685,548 (GRCm39) I146L possibly damaging Het
Gprc5b G A 7: 118,583,437 (GRCm39) A144V possibly damaging Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Ifitm6 T A 7: 140,596,627 (GRCm39) I69F possibly damaging Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Kazn T C 4: 141,834,203 (GRCm39) T618A unknown Het
Mrps5 C A 2: 127,433,755 (GRCm39) T48K possibly damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Opn4 A T 14: 34,321,789 (GRCm39) S43T probably benign Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Plcb2 T C 2: 118,541,274 (GRCm39) E1021G probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Rbsn T A 6: 92,166,800 (GRCm39) T615S probably benign Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Ros1 A T 10: 51,994,328 (GRCm39) D1317E probably damaging Het
Rpap2 A G 5: 107,751,738 (GRCm39) I129V probably damaging Het
Rubcnl G T 14: 75,287,143 (GRCm39) V604L possibly damaging Het
Slc26a4 T A 12: 31,590,532 (GRCm39) K374* probably null Het
Slc4a4 T A 5: 89,362,452 (GRCm39) S854R probably damaging Het
Sv2c A G 13: 96,123,341 (GRCm39) probably benign Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tnik A G 3: 28,658,430 (GRCm39) S572G probably damaging Het
Trbv13-3 T C 6: 41,107,120 (GRCm39) C14R probably benign Het
Ttc7 G A 17: 87,597,679 (GRCm39) D84N possibly damaging Het
Ubtd1 G T 19: 42,020,555 (GRCm39) G100* probably null Het
Vmn2r18 A T 5: 151,508,711 (GRCm39) W138R probably damaging Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zfp385b C T 2: 77,549,836 (GRCm39) G83D probably benign Het
Zfp493 A G 13: 67,932,038 (GRCm39) probably benign 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
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
R6384:F11r UTSW 1 171,288,508 (GRCm39) missense probably benign 0.01
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'- ACACGTGTGTACTCTTGCCC -3'
(R):5'- GGCTTCTTGCTCAAATAAATCAGGC -3'

Sequencing Primer
(F):5'- GTGTGTACTCTTGCCCCTTGTATTC -3'
(R):5'- TTGCTCAAATAAATCAGGCACCCG -3'
Posted On 2015-04-29