Incidental Mutation 'IGL02088:Ackr4'
ID279311
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 #IGL02088
Quality Score
Status
Chromosome9
Chromosomal Location104084157-104126933 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104098881 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 289 (E289G)
Ref Sequence ENSEMBL: ENSMUSP00000152036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047799] [ENSMUST00000076147] [ENSMUST00000120854] [ENSMUST00000188000] [ENSMUST00000189998] [ENSMUST00000219146]
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 damaging
Transcript: ENSMUST00000076147
AA Change: E289G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355
AA Change: E289G

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
Pfam:7tm_1 58 303 8.9e-51 PFAM
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 damaging
Transcript: ENSMUST00000188000
AA Change: E289G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355
AA Change: E289G

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
Pfam:7tm_1 58 303 5.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214661
Predicted Effect probably damaging
Transcript: ENSMUST00000219146
AA Change: E289G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ampd3 T A 7: 110,793,686 D220E probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Axin2 T A 11: 108,923,616 F110Y probably damaging Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
H1fnt G T 15: 98,257,178 T30K probably damaging Het
Itfg2 A G 6: 128,411,606 V306A probably benign Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Pcgf6 T C 19: 47,050,804 T6A unknown Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Tnks T A 8: 34,839,994 I1134F possibly damaging Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in Ackr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Ackr4 APN 9 104085931 intron probably benign
IGL01859:Ackr4 APN 9 104086137 intron probably benign
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
R8218:Ackr4 UTSW 9 104099211 missense probably benign 0.06
R8329:Ackr4 UTSW 9 104099461 missense possibly damaging 0.95
Posted On2015-04-16