Incidental Mutation 'IGL01600:Ccr7'
ID92140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr7
Ensembl Gene ENSMUSG00000037944
Gene Namechemokine (C-C motif) receptor 7
SynonymsEBI1, Ebi1h, Cmkbr7, CD197
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL01600
Quality Score
Status
Chromosome11
Chromosomal Location99144196-99155077 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 99145145 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 317 (V317A)
Ref Sequence ENSEMBL: ENSMUSP00000099423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103134]
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: 22,027,525 probably null Het
Dna2 T A 10: 62,950,806 I111K probably damaging Het
Egflam A G 15: 7,219,764 S858P probably damaging Het
Glt28d2 T C 3: 85,871,983 Y61C probably damaging Het
Kbtbd12 C T 6: 88,618,558 A97T probably benign Het
Myh4 A G 11: 67,260,189 E1890G possibly damaging Het
Notch3 C A 17: 32,144,498 G1197V probably damaging Het
Olfr1257 A T 2: 89,881,662 M279L probably benign Het
Pcdh10 A T 3: 45,379,487 I79L probably damaging Het
Runx1t1 T A 4: 13,841,871 V181D probably damaging Het
Snx25 A T 8: 46,116,310 D183E probably benign Het
Srsf11 G A 3: 158,019,442 probably benign Het
Tox A G 4: 6,697,585 V406A probably damaging Het
Vmn2r68 T A 7: 85,222,260 H605L probably benign Het
Other mutations in Ccr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
lanzhou UTSW 11 99145277 missense possibly damaging 0.90
IGL03047:Ccr7 UTSW 11 99145334 missense probably benign 0.44
R0707:Ccr7 UTSW 11 99145983 missense probably damaging 1.00
R1115:Ccr7 UTSW 11 99145277 missense possibly damaging 0.90
R1664:Ccr7 UTSW 11 99145691 missense possibly damaging 0.90
R2291:Ccr7 UTSW 11 99145335 missense probably damaging 1.00
R3743:Ccr7 UTSW 11 99145207 missense possibly damaging 0.86
R4108:Ccr7 UTSW 11 99145378 missense probably damaging 1.00
R4214:Ccr7 UTSW 11 99145046 missense probably damaging 0.98
R5402:Ccr7 UTSW 11 99145734 missense possibly damaging 0.93
R5602:Ccr7 UTSW 11 99145489 missense probably benign 0.08
R6275:Ccr7 UTSW 11 99145663 missense probably damaging 1.00
R6991:Ccr7 UTSW 11 99145304 missense probably damaging 1.00
R7470:Ccr7 UTSW 11 99145557 missense possibly damaging 0.80
R7549:Ccr7 UTSW 11 99145901 missense probably damaging 1.00
Z1176:Ccr7 UTSW 11 99144980 missense probably damaging 1.00
Posted On2013-12-09