Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02088:Ackr4'

279311

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ackr4

Ensembl Gene

ENSMUSG00000079355

Gene Name

atypical chemokine receptor 4

Synonyms

PPR1, 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

Chromosome

Chromosomal Location

104084157-104126933 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104098881 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2015-04-16