Incidental Mutation 'IGL01593:Ackr4'
ID91659
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ackr4
Ensembl Gene ENSMUSG00000079355
Gene Nameatypical chemokine receptor 4
SynonymsPPR1, CCBP2, CCR11, VSHK1, A630091E18Rik, CCX-CKR, Ccrl1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01593
Quality Score
Status
Chromosome9
Chromosomal Location104084157-104126933 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 104085931 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047799] [ENSMUST00000120854] [ENSMUST00000189998]
Predicted Effect probably benign
Transcript: ENSMUST00000047799
SMART Domains Protein: ENSMUSP00000043424
Gene: ENSMUSG00000090150

DomainStartEndE-ValueType
Pfam:APH 43 307 3.5e-45 PFAM
Pfam:Acyl-CoA_dh_N 376 498 1.5e-13 PFAM
Pfam:Acyl-CoA_dh_M 502 605 1.7e-21 PFAM
Pfam:Acyl-CoA_dh_1 617 768 2.7e-36 PFAM
Pfam:Acyl-CoA_dh_2 632 743 2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000050139
SMART Domains Protein: ENSMUSP00000062941
Gene: ENSMUSG00000041748

DomainStartEndE-ValueType
transmembrane domain 28 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120854
SMART Domains Protein: ENSMUSP00000112994
Gene: ENSMUSG00000090150

DomainStartEndE-ValueType
Pfam:APH 1 188 1.1e-28 PFAM
Pfam:EcKinase 49 143 4.8e-9 PFAM
Pfam:Acyl-CoA_dh_N 257 380 8.7e-15 PFAM
Pfam:Acyl-CoA_dh_M 385 439 2.4e-19 PFAM
Pfam:Acyl-CoA_dh_1 499 650 1.3e-37 PFAM
Pfam:Acyl-CoA_dh_2 514 632 2.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189998
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 is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. Mice homozygous for a different knock-out allele exhibit increased susceptibility to experimental autoimmune encephalomyelitis with increased Th17 response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,650 I310N probably damaging Het
Ankib1 A T 5: 3,732,590 D346E probably benign Het
Armc4 T C 18: 7,127,345 K956R probably benign Het
Asap2 G T 12: 21,213,202 A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 R219L probably damaging Het
Atp6v1e2 A T 17: 86,944,299 F224I probably damaging Het
Bnc2 T C 4: 84,276,241 probably null Het
Btbd11 T A 10: 85,654,475 probably benign Het
Cd33 A G 7: 43,530,281 L241P possibly damaging Het
Clec4g A T 8: 3,719,474 probably null Het
Dym C T 18: 75,114,781 probably benign Het
Enpp5 A G 17: 44,080,721 T14A probably benign Het
Ggt1 T C 10: 75,585,287 probably null Het
Gm17541 T A 12: 4,689,868 probably benign Het
Gpr39 A T 1: 125,677,451 I39F probably benign Het
Kcnb1 G T 2: 167,106,207 F240L probably damaging Het
Kcnt1 T A 2: 25,898,754 V400E probably damaging Het
Klhdc7a A G 4: 139,966,814 I274T probably damaging Het
Lrwd1 A T 5: 136,134,629 L71Q probably damaging Het
Mycbp2 A T 14: 103,291,287 probably null Het
Nckap1 A T 2: 80,520,570 M725K probably benign Het
Olfr1535 T A 13: 21,555,219 I268F probably damaging Het
Pole2 C T 12: 69,223,099 probably null Het
Prss32 A G 17: 23,856,008 T111A probably benign Het
Rgs9 A G 11: 109,249,049 probably benign Het
Slc2a4 A G 11: 69,944,828 C361R probably damaging Het
Ston1 G A 17: 88,637,010 G615R probably null Het
Tas2r139 T G 6: 42,140,957 W8G probably benign Het
Tmem101 A T 11: 102,155,878 L55Q probably damaging Het
Tnni3k T C 3: 154,941,029 probably null Het
Uba2 A G 7: 34,146,264 V478A probably damaging Het
Vps13a T C 19: 16,762,181 D52G probably damaging Het
Other mutations in Ackr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01859:Ackr4 APN 9 104086137 intron probably benign
IGL02088:Ackr4 APN 9 104098881 missense probably damaging 0.99
R0108:Ackr4 UTSW 9 104099188 missense probably benign 0.07
R0194:Ackr4 UTSW 9 104099480 missense probably benign 0.31
R0208:Ackr4 UTSW 9 104099661 missense probably benign
R0519:Ackr4 UTSW 9 104099451 missense probably benign 0.02
R0594:Ackr4 UTSW 9 104099004 missense possibly damaging 0.55
R0940:Ackr4 UTSW 9 104099632 missense probably damaging 1.00
R4510:Ackr4 UTSW 9 104098731 missense probably benign 0.02
R4511:Ackr4 UTSW 9 104098731 missense probably benign 0.02
R5298:Ackr4 UTSW 9 104098887 missense possibly damaging 0.91
R5961:Ackr4 UTSW 9 104099139 missense probably damaging 1.00
R6402:Ackr4 UTSW 9 104098945 missense possibly damaging 0.95
R6762:Ackr4 UTSW 9 104099668 missense probably benign 0.06
R7080:Ackr4 UTSW 9 104099562 missense probably damaging 1.00
Posted On2013-12-09