Incidental Mutation 'IGL00391:Ccr5'
ID 4782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr5
Ensembl Gene ENSMUSG00000079227
Gene Name C-C motif chemokine receptor 5
Synonyms CD195, Cmkbr5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # IGL00391
Quality Score
Status
Chromosome 9
Chromosomal Location 123921557-123934153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123924443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 15 (D15E)
Ref Sequence ENSEMBL: ENSMUSP00000127328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111442] [ENSMUST00000168179] [ENSMUST00000171499]
AlphaFold P51682
Predicted Effect probably benign
Transcript: ENSMUST00000097855
Predicted Effect probably benign
Transcript: ENSMUST00000111442
AA Change: D15E

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107069
Gene: ENSMUSG00000079227
AA Change: D15E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 43 314 3.8e-6 PFAM
Pfam:7tm_1 49 299 3.6e-49 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000168179
AA Change: D15E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169553
Predicted Effect possibly damaging
Transcript: ENSMUST00000171499
AA Change: D15E

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127328
Gene: ENSMUSG00000079227
AA Change: D15E

DomainStartEndE-ValueType
Pfam:7tm_1 49 123 1.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171579
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice that are homozygous for null alleles have leukocytes with defective migration and adhesion, are more susceptibility to fungal & bacterial infections, have increased length of allograft survival, and have decreased susceptibility to endotoxin shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,666 (GRCm39) F519L probably damaging Het
Adgrl3 G A 5: 81,872,071 (GRCm39) V990M probably damaging Het
Ap4b1 A G 3: 103,728,858 (GRCm39) T499A probably benign Het
Cacna2d4 T C 6: 119,314,894 (GRCm39) probably benign Het
Clca4b A G 3: 144,621,322 (GRCm39) V584A possibly damaging Het
Cmtr1 T C 17: 29,893,236 (GRCm39) M85T probably damaging Het
Col6a3 T A 1: 90,755,977 (GRCm39) H104L probably damaging Het
Coq9 A T 8: 95,577,145 (GRCm39) K170M probably damaging Het
Elmod1 A G 9: 53,831,682 (GRCm39) probably null Het
Fam47e A C 5: 92,727,522 (GRCm39) E143D probably damaging Het
Faxc A G 4: 21,948,725 (GRCm39) K146E probably damaging Het
Myo7b A C 18: 32,154,609 (GRCm39) probably benign Het
Nmur1 G A 1: 86,314,193 (GRCm39) R381C probably damaging Het
Nsd2 T G 5: 34,013,077 (GRCm39) D469E probably damaging Het
Osbpl6 G A 2: 76,420,783 (GRCm39) C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 (GRCm39) Y85C probably damaging Het
Otof A G 5: 30,532,967 (GRCm39) C1587R probably damaging Het
Plaat5 A T 19: 7,596,631 (GRCm39) probably benign Het
Plekha2 A G 8: 25,547,343 (GRCm39) V247A probably damaging Het
Plppr5 A T 3: 117,465,592 (GRCm39) N281I possibly damaging Het
Popdc3 A G 10: 45,193,922 (GRCm39) probably null Het
Ppp1r12a A G 10: 108,034,709 (GRCm39) N85D probably damaging Het
Serpinb8 A G 1: 107,534,714 (GRCm39) S262G probably benign Het
Sspo G A 6: 48,474,320 (GRCm39) G4780R probably damaging Het
Ush2a A G 1: 188,648,258 (GRCm39) E4621G probably damaging Het
Other mutations in Ccr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Ccr5 APN 9 123,924,625 (GRCm39) missense probably damaging 1.00
IGL01153:Ccr5 APN 9 123,924,649 (GRCm39) missense probably damaging 1.00
R0014:Ccr5 UTSW 9 123,924,658 (GRCm39) missense probably damaging 1.00
R0014:Ccr5 UTSW 9 123,924,658 (GRCm39) missense probably damaging 1.00
R0355:Ccr5 UTSW 9 123,924,951 (GRCm39) missense possibly damaging 0.90
R1570:Ccr5 UTSW 9 123,925,000 (GRCm39) missense probably benign 0.29
R4305:Ccr5 UTSW 9 123,925,111 (GRCm39) missense possibly damaging 0.78
R4307:Ccr5 UTSW 9 123,925,111 (GRCm39) missense possibly damaging 0.78
R4570:Ccr5 UTSW 9 123,924,912 (GRCm39) nonsense probably null
R4589:Ccr5 UTSW 9 123,924,539 (GRCm39) missense probably benign 0.00
R5549:Ccr5 UTSW 9 123,925,408 (GRCm39) missense probably benign 0.09
R5566:Ccr5 UTSW 9 123,924,697 (GRCm39) missense probably benign 0.07
R5871:Ccr5 UTSW 9 123,924,558 (GRCm39) missense probably benign 0.02
R6568:Ccr5 UTSW 9 123,925,236 (GRCm39) missense probably damaging 0.99
R7258:Ccr5 UTSW 9 123,925,311 (GRCm39) nonsense probably null
Posted On 2012-04-20