Incidental Mutation 'IGL01600:Ccr7'
ID 92140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr7
Ensembl Gene ENSMUSG00000037944
Gene Name C-C motif chemokine receptor 7
Synonyms EBI1, CD197, Cmkbr7, Ebi1h
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # IGL01600
Quality Score
Status
Chromosome 11
Chromosomal Location 99035025-99045903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 99035971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 317 (V317A)
Ref Sequence ENSEMBL: ENSMUSP00000099423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103134]
AlphaFold P47774
Predicted Effect probably benign
Transcript: ENSMUST00000103134
AA Change: V317A

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099423
Gene: ENSMUSG00000037944
AA Change: V317A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:7tm_1 75 326 1.8e-49 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous mice exhibit an impaired primary immune response. Dendritic cells, B, T and T regulatory cells show impaired migration to the lymph nodes and secondary lymph organs exhibit morphological abnormalities. Lymphocytic infiltrates to the pancreas, lung and stomach are observed in aged mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b C A 8: 22,517,541 (GRCm39) probably null Het
Dna2 T A 10: 62,786,585 (GRCm39) I111K probably damaging Het
Egflam A G 15: 7,249,245 (GRCm39) S858P probably damaging Het
Glt28d2 T C 3: 85,779,290 (GRCm39) Y61C probably damaging Het
Kbtbd12 C T 6: 88,595,540 (GRCm39) A97T probably benign Het
Myh4 A G 11: 67,151,015 (GRCm39) E1890G possibly damaging Het
Notch3 C A 17: 32,363,472 (GRCm39) G1197V probably damaging Het
Or4c10b A T 2: 89,712,006 (GRCm39) M279L probably benign Het
Pcdh10 A T 3: 45,333,922 (GRCm39) I79L probably damaging Het
Runx1t1 T A 4: 13,841,871 (GRCm39) V181D probably damaging Het
Snx25 A T 8: 46,569,347 (GRCm39) D183E probably benign Het
Srsf11 G A 3: 157,725,079 (GRCm39) probably benign Het
Tox A G 4: 6,697,585 (GRCm39) V406A probably damaging Het
Vmn2r68 T A 7: 84,871,468 (GRCm39) H605L probably benign Het
Other mutations in Ccr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
Kongtong UTSW 11 99,036,489 (GRCm39) missense probably damaging 1.00
lanzhou UTSW 11 99,036,103 (GRCm39) missense possibly damaging 0.90
qinghai UTSW 11 99,036,649 (GRCm39) missense probably damaging 1.00
IGL03047:Ccr7 UTSW 11 99,036,160 (GRCm39) missense probably benign 0.44
R0707:Ccr7 UTSW 11 99,036,809 (GRCm39) missense probably damaging 1.00
R1115:Ccr7 UTSW 11 99,036,103 (GRCm39) missense possibly damaging 0.90
R1664:Ccr7 UTSW 11 99,036,517 (GRCm39) missense possibly damaging 0.90
R2291:Ccr7 UTSW 11 99,036,161 (GRCm39) missense probably damaging 1.00
R3743:Ccr7 UTSW 11 99,036,033 (GRCm39) missense possibly damaging 0.86
R4108:Ccr7 UTSW 11 99,036,204 (GRCm39) missense probably damaging 1.00
R4214:Ccr7 UTSW 11 99,035,872 (GRCm39) missense probably damaging 0.98
R5402:Ccr7 UTSW 11 99,036,560 (GRCm39) missense possibly damaging 0.93
R5602:Ccr7 UTSW 11 99,036,315 (GRCm39) missense probably benign 0.08
R6275:Ccr7 UTSW 11 99,036,489 (GRCm39) missense probably damaging 1.00
R6991:Ccr7 UTSW 11 99,036,130 (GRCm39) missense probably damaging 1.00
R7470:Ccr7 UTSW 11 99,036,383 (GRCm39) missense possibly damaging 0.80
R7549:Ccr7 UTSW 11 99,036,727 (GRCm39) missense probably damaging 1.00
R8973:Ccr7 UTSW 11 99,036,649 (GRCm39) missense probably damaging 1.00
R9117:Ccr7 UTSW 11 99,036,086 (GRCm39) missense probably damaging 1.00
R9206:Ccr7 UTSW 11 99,039,895 (GRCm39) missense probably benign
R9631:Ccr7 UTSW 11 99,036,616 (GRCm39) missense probably benign 0.01
Z1176:Ccr7 UTSW 11 99,035,806 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09