Incidental Mutation 'R2047:Ccr4'
ID 222127
Institutional Source Beutler Lab
Gene Symbol Ccr4
Ensembl Gene ENSMUSG00000047898
Gene Name C-C motif chemokine receptor 4
Synonyms Cmkbr4, CC CKR-4
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 114319384-114333984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114321633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 144 (F144S)
Ref Sequence ENSEMBL: ENSMUSP00000150002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054414] [ENSMUST00000215425] [ENSMUST00000215959]
AlphaFold P51680
Predicted Effect probably damaging
Transcript: ENSMUST00000054414
AA Change: F144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062677
Gene: ENSMUSG00000047898
AA Change: F144S

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: F144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000215959
Meta Mutation Damage Score 0.2942 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in Ccr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02625:Ccr4 APN 9 114,321,401 (GRCm39) missense probably damaging 1.00
kentucky UTSW 9 114,321,714 (GRCm39) missense probably damaging 1.00
P4748:Ccr4 UTSW 9 114,321,906 (GRCm39) missense probably damaging 1.00
PIT4651001:Ccr4 UTSW 9 114,321,261 (GRCm39) missense probably benign 0.08
R1117:Ccr4 UTSW 9 114,321,085 (GRCm39) missense probably benign 0.00
R1542:Ccr4 UTSW 9 114,321,073 (GRCm39) missense probably benign
R1954:Ccr4 UTSW 9 114,321,753 (GRCm39) missense probably damaging 0.99
R3157:Ccr4 UTSW 9 114,321,350 (GRCm39) missense probably benign 0.04
R3158:Ccr4 UTSW 9 114,321,350 (GRCm39) missense probably benign 0.04
R3159:Ccr4 UTSW 9 114,321,350 (GRCm39) missense probably benign 0.04
R4868:Ccr4 UTSW 9 114,321,901 (GRCm39) missense probably benign
R5051:Ccr4 UTSW 9 114,321,714 (GRCm39) missense probably damaging 1.00
R6102:Ccr4 UTSW 9 114,325,561 (GRCm39) splice site probably null
R6475:Ccr4 UTSW 9 114,322,047 (GRCm39) missense probably benign 0.00
R6661:Ccr4 UTSW 9 114,325,031 (GRCm39) intron probably benign
R7241:Ccr4 UTSW 9 114,322,024 (GRCm39) missense probably benign
R7394:Ccr4 UTSW 9 114,320,994 (GRCm39) missense probably benign
R8379:Ccr4 UTSW 9 114,321,235 (GRCm39) missense probably benign 0.00
R8683:Ccr4 UTSW 9 114,321,216 (GRCm39) missense probably damaging 1.00
R8746:Ccr4 UTSW 9 114,321,918 (GRCm39) missense probably damaging 1.00
R8902:Ccr4 UTSW 9 114,325,620 (GRCm39) intron probably benign
Z1177:Ccr4 UTSW 9 114,321,907 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTTTCCACGTCGTCGAGTTG -3'
(R):5'- ACAAGAGGCTCAAGTCCATGAC -3'

Sequencing Primer
(F):5'- TCGTCGAGTTGACCGAGTAC -3'
(R):5'- GAACCTGGCCATCTCGGATTTG -3'
Posted On 2014-08-25