Incidental Mutation 'R3840:F11r'
ID 277090
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 040780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R3840 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171265129-171292161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 171288457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 100 (R100L)
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 damaging
Transcript: ENSMUST00000043839
AA Change: R100L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: R100L

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 0.5827 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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
4921524L21Rik A T 18: 6,620,104 (GRCm39) K11N probably benign Het
Abcc8 A G 7: 45,757,524 (GRCm39) I1375T possibly damaging Het
Ate1 A T 7: 130,117,867 (GRCm39) D39E probably damaging Het
BC035947 G T 1: 78,474,482 (GRCm39) N683K probably benign Het
Cdca2 A T 14: 67,917,720 (GRCm39) Y559* probably null Het
Cmya5 A G 13: 93,231,140 (GRCm39) V1316A probably damaging Het
Cntnap5b C T 1: 100,311,202 (GRCm39) T936I possibly damaging Het
Col6a5 T C 9: 105,805,810 (GRCm39) N1032S unknown Het
Cracd A T 5: 77,006,858 (GRCm39) Q1073L unknown Het
Epc2 A G 2: 49,378,750 (GRCm39) K68R probably damaging Het
Erbb3 A T 10: 128,406,193 (GRCm39) F1075I probably benign Het
Fam171b C A 2: 83,710,406 (GRCm39) Q693K possibly damaging Het
Fam83c C T 2: 155,676,668 (GRCm39) R34H probably benign Het
Fmn2 GAAGA GAAGAAAGA 1: 174,409,599 (GRCm39) probably null Het
Gask1b T A 3: 79,815,897 (GRCm39) D302E probably benign Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Hsph1 T A 5: 149,544,180 (GRCm39) probably null Het
Jhy T A 9: 40,856,142 (GRCm39) E115V probably benign Het
Kcnu1 G T 8: 26,375,380 (GRCm39) V365L possibly damaging Het
Lrrc4c A G 2: 97,460,537 (GRCm39) T388A probably damaging Het
Mastl T C 2: 23,030,563 (GRCm39) D202G probably damaging Het
Medag T A 5: 149,350,888 (GRCm39) I121N probably damaging Het
Mideas T C 12: 84,218,383 (GRCm39) R526G probably damaging Het
Mocos C T 18: 24,809,681 (GRCm39) A428V probably damaging Het
Mok C T 12: 110,781,591 (GRCm39) V59M probably benign Het
Neb C A 2: 52,097,672 (GRCm39) probably null Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or10al7 A G 17: 38,366,239 (GRCm39) S73P probably damaging Het
Or52s1 G A 7: 102,861,900 (GRCm39) G267R probably damaging Het
Otud1 G T 2: 19,663,554 (GRCm39) E228* probably null Het
Pcdhga11 A T 18: 37,890,602 (GRCm39) N537Y probably damaging Het
Pkd1l1 T C 11: 8,839,050 (GRCm39) Y878C probably damaging Het
Podxl C T 6: 31,500,016 (GRCm39) V485I probably damaging Het
Psmd12 T C 11: 107,376,398 (GRCm39) I44T probably benign Het
Rap1gap T C 4: 137,444,758 (GRCm39) F182S probably damaging Het
Slc22a13 T C 9: 119,037,855 (GRCm39) D91G probably benign Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Snap91 C T 9: 86,721,618 (GRCm39) V74M probably damaging Het
Tmem87b T A 2: 128,668,304 (GRCm39) L150* probably null Het
Tmprss7 T A 16: 45,481,195 (GRCm39) R664* probably null Het
Tnfrsf11b T A 15: 54,115,478 (GRCm39) H373L probably damaging Het
Tnfrsf23 A G 7: 143,235,266 (GRCm39) S33P probably benign Het
Tro A G X: 149,429,198 (GRCm39) probably benign Het
Tulp1 A G 17: 28,572,689 (GRCm39) V489A probably damaging Het
Wac C A 18: 7,918,535 (GRCm39) P416H probably damaging Het
Zap70 T A 1: 36,817,498 (GRCm39) I247N probably damaging Het
Zfp617 G A 8: 72,685,961 (GRCm39) G97E 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
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
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'- AGTAATCGACACTGCCCAGC -3'
(R):5'- CTTAGGTCCTATCAAACCAGGG -3'

Sequencing Primer
(F):5'- ACACTGCCCAGCCTGGATTC -3'
(R):5'- TCCTATCAAACCAGGGGGCTC -3'
Posted On 2015-04-06