Incidental Mutation 'IGL01859:Ackr4'
ID178243
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 #IGL01859
Quality Score
Status
Chromosome9
Chromosomal Location104084157-104126933 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 104086137 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 noncoding transcript
Transcript: ENSMUST00000154431
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak7 A G 12: 105,745,297 M398V probably null Het
Angptl3 C T 4: 99,037,432 R332* probably null Het
Ano7 A G 1: 93,394,446 Y392C probably damaging Het
Arpc1b T C 5: 145,123,730 F18L probably damaging Het
Cdc23 G T 18: 34,651,406 P73Q probably benign Het
Cdkl1 A C 12: 69,760,129 L111R probably damaging Het
Cntnap2 A G 6: 46,988,721 D822G probably damaging Het
Col6a5 G A 9: 105,930,961 R963* probably null Het
Crocc T C 4: 141,029,290 D1008G probably benign Het
Dntt G T 19: 41,037,304 M120I probably benign Het
Dock1 A G 7: 135,077,161 Y1003C possibly damaging Het
Fam178b T A 1: 36,659,365 R92W probably damaging Het
Fermt2 A G 14: 45,459,956 V646A possibly damaging Het
Foxc1 T C 13: 31,808,723 S506P unknown Het
Gm11127 A T 17: 36,058,011 M59K possibly damaging Het
Gtpbp1 T A 15: 79,719,140 V610E probably benign Het
Hsdl2 T C 4: 59,601,569 probably null Het
Itgb8 T A 12: 119,189,945 R278S probably damaging Het
Kcnh7 T A 2: 62,721,788 D953V probably benign Het
Med13 A T 11: 86,283,751 D1749E possibly damaging Het
Mocos G T 18: 24,666,660 probably benign Het
Pcdhb20 T G 18: 37,504,563 N47K probably damaging Het
Phf21a T A 2: 92,328,356 F227L probably damaging Het
Piezo2 T C 18: 63,092,844 E907G probably benign Het
Pla2g4e G T 2: 120,182,733 Q369K possibly damaging Het
Ppp3cb A G 14: 20,509,449 I413T probably damaging Het
Ptgis A G 2: 167,214,806 probably null Het
Rasgrp1 A G 2: 117,289,418 V452A probably benign Het
Rbms3 T A 9: 116,959,538 D105V probably damaging Het
Rnase1 C A 14: 51,145,803 Q31H probably benign Het
Rnase13 G T 14: 51,922,303 N126K probably damaging Het
Sema5b G T 16: 35,647,109 V248L possibly damaging Het
Serpinb12 G A 1: 106,953,834 probably null Het
Slc4a11 A T 2: 130,684,994 L738Q probably damaging Het
Spta1 A T 1: 174,174,372 I23F probably damaging Het
Stk-ps2 A T 1: 46,030,042 noncoding transcript Het
Tcp1 A G 17: 12,922,684 E350G possibly damaging Het
Tonsl T C 15: 76,634,780 K518E probably damaging Het
Trim34a A G 7: 104,260,942 E317G probably damaging Het
Trit1 A G 4: 123,049,551 S335G probably benign Het
Usp28 G T 9: 49,024,021 E91* probably null Het
Vmn2r56 A G 7: 12,716,005 L102P probably damaging Het
Wwtr1 A C 3: 57,477,517 L203R possibly damaging Het
Zfp110 T C 7: 12,849,540 V705A possibly damaging Het
Zfp955a T C 17: 33,243,719 N67S probably benign Het
Other mutations in Ackr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Ackr4 APN 9 104085931 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 On2014-05-07