Incidental Mutation 'R3545:F11r'
ID 268152
Institutional Source Beutler Lab
Gene Symbol F11r
Ensembl Gene ENSMUSG00000038235
Gene Name F11 receptor
Synonyms JAM-A, Jcam1, Ly106, BV11 antigen, ESTM33, JAM-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R3545 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171265129-171292161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 171288829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 149 (V149A)
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: V149A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041907
Gene: ENSMUSG00000038235
AA Change: V149A

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Efl1 A T 7: 82,412,018 (GRCm39) E802D probably benign Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Fmn2 A G 1: 174,330,192 (GRCm39) D194G unknown Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Herc3 T C 6: 58,833,670 (GRCm39) S186P probably damaging Het
Hexa A G 9: 59,464,581 (GRCm39) N157S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Lig1 T A 7: 13,026,089 (GRCm39) N281K possibly damaging Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9a T C 7: 26,256,757 (GRCm39) I125T probably benign Het
Nme7 T C 1: 164,213,351 (GRCm39) F343S probably damaging Het
Otud4 A G 8: 80,391,684 (GRCm39) E443G probably damaging Het
Palld G T 8: 62,003,112 (GRCm39) A329E possibly damaging Het
Pask A T 1: 93,244,837 (GRCm39) V1095D probably damaging Het
Pdzd2 C T 15: 12,375,557 (GRCm39) R1526Q probably benign Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Ramac T A 7: 81,418,270 (GRCm39) probably null Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin9 T C 11: 117,243,499 (GRCm39) I350T probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Spata32 T C 11: 103,101,570 (GRCm39) E21G possibly damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Tubal3 T G 13: 3,983,560 (GRCm39) *447G probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P 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
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'- GTTTGATAGGACCTAAGGGCATG -3'
(R):5'- TCAGGGGTCTTATGACTGGC -3'

Sequencing Primer
(F):5'- ACCTAAGGGCATGCGGGTG -3'
(R):5'- GGTCTTATGACTGGCCCCCAC -3'
Posted On 2015-02-19