Incidental Mutation 'IGL01153:Ccr5'
ID52023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr5
Ensembl Gene ENSMUSG00000079227
Gene Namechemokine (C-C motif) receptor 5
SynonymsCmkbr5, CD195
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01153
Quality Score
Status
Chromosome9
Chromosomal Location124121543-124147699 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 124124612 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 84 (T84K)
Ref Sequence ENSEMBL: ENSMUSP00000127328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111442] [ENSMUST00000168179] [ENSMUST00000171499]
Predicted Effect probably benign
Transcript: ENSMUST00000097855
Predicted Effect probably damaging
Transcript: ENSMUST00000111442
AA Change: T84K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107069
Gene: ENSMUSG00000079227
AA Change: T84K

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 damaging
Transcript: ENSMUST00000171499
AA Change: T84K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000127328
Gene: ENSMUSG00000079227
AA Change: T84K

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,419,128 I5309V probably benign Het
Amy1 A G 3: 113,556,075 V482A possibly damaging Het
Ankrd22 A T 19: 34,128,829 V81E probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Chchd3 A T 6: 33,008,567 probably benign Het
Cpt1c C T 7: 44,966,668 E307K probably damaging Het
Cyth2 T C 7: 45,808,389 Y120C probably damaging Het
Dnajb11 T A 16: 22,862,680 D69E probably benign Het
Ece2 T A 16: 20,632,794 M215K possibly damaging Het
Enox2 C A X: 49,062,138 probably null Het
Fam120c T C X: 151,399,805 probably null Het
Fam149b A G 14: 20,377,881 T319A possibly damaging Het
Fndc1 A T 17: 7,780,042 probably null Het
Gcsh T A 8: 116,983,810 D138V probably benign Het
Herc3 T A 6: 58,860,336 H331Q probably benign Het
Iars A G 13: 49,711,805 N586D probably damaging Het
Idh3g A G X: 73,780,062 V280A probably damaging Het
Kctd18 A G 1: 57,965,391 S115P probably damaging Het
Lims2 A G 18: 31,957,317 probably null Het
Mael T C 1: 166,202,350 K334E possibly damaging Het
Me3 A C 7: 89,849,636 T475P probably damaging Het
Mrpl18 A G 17: 12,915,806 L24P possibly damaging Het
Nol4 C A 18: 22,769,793 R460L probably damaging Het
Numa1 A T 7: 101,994,744 E181V probably damaging Het
Olfr791 T A 10: 129,526,995 I256N probably damaging Het
Pex2 A T 3: 5,561,364 H128Q probably benign Het
Pex3 A T 10: 13,552,853 probably null Het
Psmb8 A G 17: 34,201,241 Y269C possibly damaging Het
Sh2d3c A G 2: 32,725,084 K62R probably benign Het
Strn4 G A 7: 16,837,921 G613D probably damaging Het
Taok2 A G 7: 126,871,032 W875R probably damaging Het
Tbc1d4 T C 14: 101,608,015 D149G possibly damaging Het
Tmem251 T A 12: 102,744,876 Y119* probably null Het
Zfp473 A G 7: 44,734,568 S113P probably damaging Het
Zfp768 A G 7: 127,344,531 Y145H possibly damaging Het
Zgrf1 G A 3: 127,602,406 G534R probably damaging Het
Other mutations in Ccr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Ccr5 APN 9 124124406 missense possibly damaging 0.59
IGL00551:Ccr5 APN 9 124124588 missense probably damaging 1.00
R0014:Ccr5 UTSW 9 124124621 missense probably damaging 1.00
R0014:Ccr5 UTSW 9 124124621 missense probably damaging 1.00
R0355:Ccr5 UTSW 9 124124914 missense possibly damaging 0.90
R1570:Ccr5 UTSW 9 124124963 missense probably benign 0.29
R4305:Ccr5 UTSW 9 124125074 missense possibly damaging 0.78
R4307:Ccr5 UTSW 9 124125074 missense possibly damaging 0.78
R4570:Ccr5 UTSW 9 124124875 nonsense probably null
R4589:Ccr5 UTSW 9 124124502 missense probably benign 0.00
R5549:Ccr5 UTSW 9 124125371 missense probably benign 0.09
R5566:Ccr5 UTSW 9 124124660 missense probably benign 0.07
R5871:Ccr5 UTSW 9 124124521 missense probably benign 0.02
R6568:Ccr5 UTSW 9 124125199 missense probably damaging 0.99
R7258:Ccr5 UTSW 9 124125274 nonsense probably null
Posted On2013-06-21