Incidental Mutation 'R5871:Ccr5'
ID 455200
Institutional Source Beutler Lab
Gene Symbol Ccr5
Ensembl Gene ENSMUSG00000079227
Gene Name C-C motif chemokine receptor 5
Synonyms CD195, Cmkbr5
MMRRC Submission 043234-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5871 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 123921557-123934153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123924558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 54 (F54L)
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: F54L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000107069
Gene: ENSMUSG00000079227
AA Change: F54L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 43 314 3.8e-6 PFAM
Pfam:7tm_1 49 299 3.6e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169553
Predicted Effect probably benign
Transcript: ENSMUST00000171499
AA Change: F54L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000127328
Gene: ENSMUSG00000079227
AA Change: F54L

DomainStartEndE-ValueType
Pfam:7tm_1 49 123 1.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171579
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 A T 1: 173,159,640 (GRCm39) L293Q probably damaging Het
Ankrd13d A G 19: 4,332,022 (GRCm39) V92A possibly damaging Het
Anxa5 T A 3: 36,506,398 (GRCm39) Q218L possibly damaging Het
Bend6 T C 1: 33,902,946 (GRCm39) M135V probably damaging Het
Chrng T C 1: 87,134,451 (GRCm39) V164A possibly damaging Het
Clca3a1 T G 3: 144,460,642 (GRCm39) S271R probably damaging Het
Csmd3 G A 15: 47,752,112 (GRCm39) T1282I probably damaging Het
Dock10 C A 1: 80,519,057 (GRCm39) probably null Het
Esrrb A G 12: 86,552,661 (GRCm39) Y196C probably benign Het
Fam76a T C 4: 132,631,321 (GRCm39) D208G probably damaging Het
Fancd2 A G 6: 113,533,243 (GRCm39) E520G probably benign Het
Fgf9 A T 14: 58,320,656 (GRCm39) probably null Het
Gatb T A 3: 85,561,083 (GRCm39) L533* probably null Het
Igsf10 G T 3: 59,237,832 (GRCm39) A783D possibly damaging Het
Ldlrap1 A G 4: 134,486,240 (GRCm39) I73T probably damaging Het
Lrrc37 T C 11: 103,507,280 (GRCm39) probably benign Het
Msr1 G A 8: 40,064,693 (GRCm39) P327L probably damaging Het
Myo18a T C 11: 77,723,306 (GRCm39) Y823H probably damaging Het
Ncapg A G 5: 45,853,039 (GRCm39) E835G probably damaging Het
Nfam1 A G 15: 82,900,623 (GRCm39) S120P probably damaging Het
Or4k44 A G 2: 111,367,984 (GRCm39) S217P probably damaging Het
Or56a3 T C 7: 104,735,511 (GRCm39) V196A possibly damaging Het
Or8b49 T A 9: 38,505,628 (GRCm39) I37K possibly damaging Het
Or9m2 T C 2: 87,821,355 (GRCm39) F300S possibly damaging Het
Phtf2 A G 5: 20,999,399 (GRCm39) V248A probably benign Het
Pik3r3 G T 4: 116,143,355 (GRCm39) E283* probably null Het
Plcg2 T A 8: 118,230,956 (GRCm39) Y13N probably damaging Het
Pth2r C T 1: 65,427,796 (GRCm39) P490S probably damaging Het
Rnf40 T A 7: 127,190,757 (GRCm39) M275K probably damaging Het
Rpgrip1l T C 8: 91,948,014 (GRCm39) E1223G possibly damaging Het
Sec14l5 T A 16: 4,986,717 (GRCm39) N168K probably benign Het
Siglecf T C 7: 43,005,045 (GRCm39) V425A probably benign Het
Sorbs1 A G 19: 40,387,027 (GRCm39) V13A probably damaging Het
Svil T A 18: 5,103,669 (GRCm39) probably null Het
Tbrg1 A G 9: 37,562,278 (GRCm39) I300T probably damaging Het
Tnni3k T A 3: 154,736,007 (GRCm39) D112V probably benign Het
Ubxn1 A G 19: 8,851,576 (GRCm39) Q203R probably benign Het
Ugt1a7c A G 1: 88,023,381 (GRCm39) D180G possibly damaging Het
Usp14 A G 18: 9,996,234 (GRCm39) F449L probably benign Het
Wwc2 A G 8: 48,321,458 (GRCm39) L552P unknown Het
Zscan10 A G 17: 23,826,241 (GRCm39) probably benign Het
Other mutations in Ccr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Ccr5 APN 9 123,924,443 (GRCm39) missense possibly damaging 0.59
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
R6568:Ccr5 UTSW 9 123,925,236 (GRCm39) missense probably damaging 0.99
R7258:Ccr5 UTSW 9 123,925,311 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATAGGCTCTTGCAGGATGG -3'
(R):5'- CAAGTACCTATCAATTGTCAGGAGG -3'

Sequencing Primer
(F):5'- GATTTTCAAGGGTCAGTTCCGACC -3'
(R):5'- TAACCAATGTGATAGAGCCCTGTG -3'
Posted On 2017-02-10