Incidental Mutation 'R4589:Ccr5'
ID 342687
Institutional Source Beutler Lab
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: 0.097) question?
Stock # R4589 (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 A at 123924539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 47 (F47L)
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: F47L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107069
Gene: ENSMUSG00000079227
AA Change: F47L

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: F47L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127328
Gene: ENSMUSG00000079227
AA Change: F47L

DomainStartEndE-ValueType
Pfam:7tm_1 49 123 1.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171579
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 G T 16: 14,211,895 (GRCm39) V157L probably benign Het
Actn1 G A 12: 80,218,573 (GRCm39) T737I possibly damaging Het
Ada T C 2: 163,574,868 (GRCm39) K90E possibly damaging Het
Ap2b1 T A 11: 83,223,837 (GRCm39) L184* probably null Het
Arfgef3 T C 10: 18,521,947 (GRCm39) D693G probably damaging Het
Arid4a A T 12: 71,116,738 (GRCm39) I277F probably damaging Het
Armh4 A G 14: 50,011,039 (GRCm39) S223P probably damaging Het
Ccdc171 A G 4: 83,467,855 (GRCm39) S67G probably benign Het
Clip4 T A 17: 72,117,862 (GRCm39) C302* probably null Het
Cyth1 C T 11: 118,075,811 (GRCm39) V142I possibly damaging Het
Ddx59 T A 1: 136,367,480 (GRCm39) probably null Het
Def6 G T 17: 28,447,121 (GRCm39) R584L probably benign Het
Dnah7c C A 1: 46,553,743 (GRCm39) Y340* probably null Het
Eif2ak4 T G 2: 118,247,819 (GRCm39) C173W probably damaging Het
Gm14403 C T 2: 177,200,428 (GRCm39) H125Y probably benign Het
Grk3 T C 5: 113,089,584 (GRCm39) I323V possibly damaging Het
Homez G T 14: 55,094,487 (GRCm39) T407K probably damaging Het
Igdcc4 A G 9: 65,037,910 (GRCm39) T763A probably damaging Het
Ighg2b A T 12: 113,270,104 (GRCm39) W305R unknown Het
Il27ra G T 8: 84,763,038 (GRCm39) N296K probably damaging Het
Lzic G T 4: 149,572,561 (GRCm39) L50F probably damaging Het
Mbtd1 T C 11: 93,812,245 (GRCm39) V183A probably damaging Het
Mme T A 3: 63,287,693 (GRCm39) D731E probably benign Het
Mocos T C 18: 24,787,095 (GRCm39) L38P probably damaging Het
Mrps18a T C 17: 46,428,899 (GRCm39) probably null Het
Msh2 T A 17: 87,987,460 (GRCm39) V200D possibly damaging Het
Mug1 A T 6: 121,834,310 (GRCm39) I364F probably benign Het
Mycbp2 G T 14: 103,414,749 (GRCm39) S2554R probably benign Het
Nat10 A G 2: 103,584,415 (GRCm39) C121R probably damaging Het
Nfatc3 T A 8: 106,805,705 (GRCm39) D183E probably damaging Het
Odr4 C T 1: 150,260,238 (GRCm39) V127I probably benign Het
Or4d10c T C 19: 12,065,305 (GRCm39) I284V possibly damaging Het
Or51ac3 A T 7: 103,213,639 (GRCm39) F282L probably damaging Het
Or52h1 C A 7: 103,828,636 (GRCm39) probably null Het
Or5d14 T C 2: 87,880,823 (GRCm39) I48M probably benign Het
Pak6 T A 2: 118,527,021 (GRCm39) I672K probably damaging Het
Pan3 A T 5: 147,479,983 (GRCm39) I830F probably damaging Het
Pcdh9 A T 14: 94,125,628 (GRCm39) L181I probably damaging Het
Pigg G A 5: 108,480,556 (GRCm39) A447T probably benign Het
Pitpnb T A 5: 111,519,214 (GRCm39) S165T probably damaging Het
Pla2g2a A G 4: 138,560,590 (GRCm39) Y67C probably damaging Het
Plch1 A G 3: 63,688,928 (GRCm39) I80T probably damaging Het
Pnma1 A G 12: 84,194,235 (GRCm39) I156T probably benign Het
Prss21 G T 17: 24,091,796 (GRCm39) D255Y possibly damaging Het
Prune1 T A 3: 95,169,642 (GRCm39) I187F possibly damaging Het
Rab7b T C 1: 131,633,385 (GRCm39) F78L probably benign Het
Riok3 T A 18: 12,269,844 (GRCm39) Y92N probably benign Het
Rpap2 T C 5: 107,768,361 (GRCm39) S400P probably benign Het
Ryr3 C A 2: 112,705,478 (GRCm39) G792V probably damaging Het
Septin3 A G 15: 82,170,092 (GRCm39) E206G probably damaging Het
Stkld1 T C 2: 26,840,679 (GRCm39) S454P probably damaging Het
Tdh A T 14: 63,733,326 (GRCm39) L140Q probably damaging Het
Tex15 T A 8: 34,047,401 (GRCm39) H159Q probably damaging Het
Tmed6 C T 8: 107,790,793 (GRCm39) V85I probably benign Het
Vmn1r174 T A 7: 23,454,204 (GRCm39) L290* probably null Het
Vmn1r31 A G 6: 58,449,596 (GRCm39) S90P probably damaging Het
Vmn2r55 T C 7: 12,404,822 (GRCm39) T194A probably damaging Het
Vmn2r82 A T 10: 79,192,548 (GRCm39) I42F probably damaging Het
Vps35 G A 8: 86,014,331 (GRCm39) P106L probably damaging Het
Xrcc6 T A 15: 81,906,661 (GRCm39) Y69N probably damaging Het
Zbtb14 C T 17: 69,695,465 (GRCm39) P388S probably damaging Het
Zfp541 C T 7: 15,817,261 (GRCm39) A902V 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
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
Predicted Primers PCR Primer
(F):5'- GGTAGGCCAACAATTGCTTTAACC -3'
(R):5'- TGTGATAGAGCCCTGTGAATAC -3'

Sequencing Primer
(F):5'- TGCTTTAACCTTTATTAAGCATTGTC -3'
(R):5'- AGAGCCCTGTGAATACTTTACAC -3'
Posted On 2015-09-24