Incidental Mutation 'R1984:F11r'
ID 220265
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 039996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R1984 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171265129-171292161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171289438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 254 (I254V)
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: I254V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: I254V

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik A T 6: 124,324,778 (GRCm39) L81H probably damaging Het
Abca8b A G 11: 109,868,667 (GRCm39) C166R probably damaging Het
Adgrv1 T A 13: 81,671,868 (GRCm39) E2242D probably damaging Het
Agap1 T C 1: 89,694,045 (GRCm39) S448P probably benign Het
Aldh1a2 T C 9: 71,160,334 (GRCm39) L120P probably damaging Het
Alkbh2 T C 5: 114,262,115 (GRCm39) N205S probably benign Het
Anapc1 C A 2: 128,511,608 (GRCm39) G493C possibly damaging Het
Aox3 A T 1: 58,192,220 (GRCm39) I497F possibly damaging Het
Atp2b1 T C 10: 98,850,354 (GRCm39) S826P possibly damaging Het
Atp8b4 T A 2: 126,164,928 (GRCm39) R1129S probably damaging Het
Bche T A 3: 73,609,159 (GRCm39) Q89L probably benign Het
Bche G T 3: 73,609,160 (GRCm39) Q89K probably benign Het
Bcl9 T C 3: 97,121,050 (GRCm39) K171E probably damaging Het
Cacna1b A T 2: 24,538,998 (GRCm39) Y1488N probably damaging Het
Dock8 A G 19: 25,098,545 (GRCm39) N623S probably null Het
Dok6 T C 18: 89,578,234 (GRCm39) E61G probably damaging Het
Duxf4 T A 10: 58,071,785 (GRCm39) Q143L possibly damaging Het
Esf1 A T 2: 139,990,806 (GRCm39) D559E possibly damaging Het
Fkrp A G 7: 16,545,802 (GRCm39) V20A probably benign Het
Fscb T C 12: 64,521,457 (GRCm39) E3G unknown Het
Hdlbp A G 1: 93,358,840 (GRCm39) I237T probably damaging Het
Hfm1 A T 5: 107,046,442 (GRCm39) D481E probably damaging Het
Hspa4l T C 3: 40,714,833 (GRCm39) V156A probably damaging Het
Igfn1 A G 1: 135,889,782 (GRCm39) S2422P probably benign Het
Il23r T A 6: 67,467,652 (GRCm39) probably null Het
Il24 G A 1: 130,810,268 (GRCm39) T196I probably benign Het
Isg15 T C 4: 156,284,250 (GRCm39) I93V probably benign Het
Kcna6 T C 6: 126,715,473 (GRCm39) E472G probably benign Het
Kif21b G A 1: 136,075,284 (GRCm39) D166N probably damaging Het
Lilrb4b A T 10: 51,357,831 (GRCm39) Q80L possibly damaging Het
Lrrc69 T C 4: 14,708,669 (GRCm39) E225G possibly damaging Het
Marchf6 A T 15: 31,469,792 (GRCm39) L726Q probably damaging Het
Megf6 G T 4: 154,352,124 (GRCm39) G1210C probably damaging Het
Msh2 C T 17: 88,026,724 (GRCm39) T740I probably damaging Het
Myh14 T C 7: 44,288,446 (GRCm39) Y514C probably damaging Het
Myorg C A 4: 41,497,501 (GRCm39) A710S possibly damaging Het
Nedd1 T C 10: 92,550,022 (GRCm39) T88A possibly damaging Het
Nfkb1 G A 3: 135,321,110 (GRCm39) T215I possibly damaging Het
Obox1 A T 7: 15,289,135 (GRCm39) I17L probably benign Het
Or11g24 A T 14: 50,662,848 (GRCm39) I291L possibly damaging Het
Palb2 A C 7: 121,726,303 (GRCm39) H522Q probably damaging Het
Pde4c C T 8: 71,177,191 (GRCm39) T6M probably damaging Het
Plekhg1 A G 10: 3,908,181 (GRCm39) K97E probably damaging Het
Plod3 A G 5: 137,019,707 (GRCm39) probably null Het
Plppr3 A T 10: 79,703,294 (GRCm39) Y63* probably null Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Qrich1 T C 9: 108,411,246 (GRCm39) V257A probably damaging Het
Rpl14 A G 9: 120,401,253 (GRCm39) D32G possibly damaging Het
Senp8 A G 9: 59,644,721 (GRCm39) V132A possibly damaging Het
Serac1 A G 17: 6,095,964 (GRCm39) probably null Het
Sh2d3c T A 2: 32,639,256 (GRCm39) C295* probably null Het
Stab1 A G 14: 30,872,605 (GRCm39) F1142L probably benign Het
Stam2 T C 2: 52,599,638 (GRCm39) T257A possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A G 15: 66,554,691 (GRCm39) E702G probably benign Het
Tgif2lx2 A T X: 117,337,690 (GRCm39) K218* probably null Het
Tpp1 C A 7: 105,400,905 (GRCm39) V41L probably benign Het
Tulp3 A T 6: 128,303,769 (GRCm39) S277T probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp683 T C 4: 133,784,766 (GRCm39) F338L probably damaging 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
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
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'- GCCTGAGATTAGAGCTTGGG -3'
(R):5'- GGCATCAAGTCCATACTGGG -3'

Sequencing Primer
(F):5'- CTTGGGGTGTGGTCAGAGCC -3'
(R):5'- GGAACATACTATACTGCTGGGTAC -3'
Posted On 2014-08-25