Incidental Mutation 'IGL02625:Ccr4'
ID301030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr4
Ensembl Gene ENSMUSG00000047898
Gene Namechemokine (C-C motif) receptor 4
SynonymsCC CKR-4, Cmkbr4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02625
Quality Score
Status
Chromosome9
Chromosomal Location114490316-114504916 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 114492333 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tryptophan at position 221 (C221W)
Ref Sequence ENSEMBL: ENSMUSP00000150002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054414] [ENSMUST00000215425] [ENSMUST00000215959]
Predicted Effect probably damaging
Transcript: ENSMUST00000054414
AA Change: C221W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062677
Gene: ENSMUSG00000047898
AA Change: C221W

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 50 319 2.9e-11 PFAM
Pfam:7tm_1 56 304 3.2e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215425
AA Change: C221W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215959
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 belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased mortality, decreased tumor necrosis factor production, and decreased IL-1beta production following LPS administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,746,347 C109S probably damaging Het
Arhgdia C A 11: 120,580,213 E53D probably benign Het
Ces2a G A 8: 104,740,278 probably null Het
Chpf2 G T 5: 24,591,711 E552* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 R207H probably benign Het
Dock2 A G 11: 34,501,168 probably null Het
Esr1 A T 10: 5,001,346 T575S probably benign Het
Fancc A G 13: 63,398,151 C93R probably damaging Het
Foxj3 A T 4: 119,624,917 R523W unknown Het
Fryl C T 5: 73,069,877 probably benign Het
Fsip2 A C 2: 82,949,492 H194P probably benign Het
Gaa G A 11: 119,274,733 V350I probably damaging Het
Gpn3 T A 5: 122,381,194 I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 H136L probably benign Het
Hist4h4 C T 6: 136,804,337 probably benign Het
Hspg2 A G 4: 137,512,642 D507G probably damaging Het
Jcad A G 18: 4,674,422 E728G probably benign Het
Kat14 G A 2: 144,402,445 R406H possibly damaging Het
Kcnma1 G T 14: 23,363,832 D863E probably damaging Het
Lrp1 A G 10: 127,574,486 Y1464H probably damaging Het
Map4 T C 9: 110,064,417 S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 I506M probably benign Het
Nudt17 G A 3: 96,706,464 R266W probably damaging Het
Olfr1241 A G 2: 89,482,674 S154P probably damaging Het
Olfr1256 A G 2: 89,835,396 L183P probably damaging Het
Olfr651 A G 7: 104,553,573 Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 E529G probably benign Het
Prss32 A T 17: 23,856,236 I187F possibly damaging Het
Prss55 A T 14: 64,079,369 I108K probably damaging Het
Rcl1 A G 19: 29,118,341 M109V probably benign Het
Rho A T 6: 115,935,197 M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 probably null Het
Stx11 T A 10: 12,941,917 D21V possibly damaging Het
Svep1 T A 4: 58,115,807 Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 probably benign Het
Tcf12 C A 9: 71,922,757 G141W probably damaging Het
Tmtc2 A G 10: 105,370,546 M296T probably damaging Het
Trim13 T A 14: 61,605,550 S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 K133E possibly damaging Het
Usp40 A G 1: 87,950,017 V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 N240T probably damaging Het
Wdr36 T C 18: 32,859,261 V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr6 T C 9: 108,575,505 Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 probably benign Het
Other mutations in Ccr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
kentucky UTSW 9 114492646 missense probably damaging 1.00
P4748:Ccr4 UTSW 9 114492838 missense probably damaging 1.00
PIT4651001:Ccr4 UTSW 9 114492193 missense probably benign 0.08
R1117:Ccr4 UTSW 9 114492017 missense probably benign 0.00
R1542:Ccr4 UTSW 9 114492005 missense probably benign
R1954:Ccr4 UTSW 9 114492685 missense probably damaging 0.99
R2047:Ccr4 UTSW 9 114492565 missense probably damaging 1.00
R3157:Ccr4 UTSW 9 114492282 missense probably benign 0.04
R3158:Ccr4 UTSW 9 114492282 missense probably benign 0.04
R3159:Ccr4 UTSW 9 114492282 missense probably benign 0.04
R4868:Ccr4 UTSW 9 114492833 missense probably benign
R5051:Ccr4 UTSW 9 114492646 missense probably damaging 1.00
R6102:Ccr4 UTSW 9 114496493 splice site probably null
R6475:Ccr4 UTSW 9 114492979 missense probably benign 0.00
R6661:Ccr4 UTSW 9 114495963 intron probably benign
R7241:Ccr4 UTSW 9 114492956 missense probably benign
R7394:Ccr4 UTSW 9 114491926 missense probably benign
Z1177:Ccr4 UTSW 9 114492839 missense probably damaging 1.00
Posted On2015-04-16