Mutagenetix > Incidental Mutation

Incidental Mutation 'R0940:Ackr4'

81429

Institutional Source

Beutler Lab

Gene Symbol

Ackr4

Ensembl Gene

ENSMUSG00000079355

Gene Name

atypical chemokine receptor 4

Synonyms

A630091E18Rik, CCX-CKR, PPR1, CCBP2, CCR11, VSHK1, Ccrl1

MMRRC Submission

039079-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0940 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103974881-104003842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103976831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 39 (F39L)

Ref Sequence

ENSEMBL: ENSMUSP00000152036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047799] [ENSMUST00000076147] [ENSMUST00000120854] [ENSMUST00000188000] [ENSMUST00000189998] [ENSMUST00000219146]

AlphaFold

Q924I3

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: F39L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355
AA Change: F39L

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: F39L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355
AA Change: F39L

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

probably damaging
Transcript: ENSMUST00000219146
AA Change: F39L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216305

Meta Mutation Damage Score

0.5587

Coding Region Coverage

1x: 99.5%
3x: 99.1%
10x: 98.0%
20x: 96.7%

Validation Efficiency

100% (68/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	C	T	9: 22,119,367 (GRCm39)		noncoding transcript	Het
2610021A01Rik	T	G	7: 41,275,858 (GRCm39)	I520M	probably damaging	Het
Adgre5	C	T	8: 84,460,126 (GRCm39)	S92N	probably damaging	Het
Adrb2	T	C	18: 62,312,762 (GRCm39)	D21G	probably benign	Het
Akr1c6	G	A	13: 4,486,372 (GRCm39)	E60K	probably benign	Het
Bcl7c	T	A	7: 127,306,503 (GRCm39)	N96I	possibly damaging	Het
Brca1	A	T	11: 101,422,969 (GRCm39)	S106R	possibly damaging	Het
C6	A	T	15: 4,764,717 (GRCm39)	T138S	probably benign	Het
Cul3	T	C	1: 80,300,564 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 31,022,217 (GRCm39)	M3939K	probably damaging	Het
Dock4	T	A	12: 40,681,626 (GRCm39)		probably benign	Het
Dsc2	T	G	18: 20,183,116 (GRCm39)	T101P	probably damaging	Het
Dynlt1b	T	C	17: 6,697,649 (GRCm39)		probably benign	Het
E330013P04Rik	A	G	19: 60,150,354 (GRCm39)		noncoding transcript	Het
Fggy	A	G	4: 95,585,238 (GRCm39)	E39G	probably benign	Het
Fhip1a	A	G	3: 85,572,797 (GRCm39)	V952A	possibly damaging	Het
Fmo6	A	T	1: 162,753,795 (GRCm39)	C116S	probably benign	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gmps	A	G	3: 63,883,743 (GRCm39)		probably benign	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Hnrnpm	G	A	17: 33,868,976 (GRCm39)	R523C	probably damaging	Het
Inpp5a	T	C	7: 139,105,654 (GRCm39)	Y202H	probably damaging	Het
Kank3	C	T	17: 34,036,450 (GRCm39)	S106F	probably damaging	Het
Lmcd1	A	G	6: 112,305,658 (GRCm39)	D253G	probably benign	Het
Lrrk2	A	T	15: 91,613,284 (GRCm39)	I803F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Mycbp2	A	T	14: 103,500,129 (GRCm39)		probably benign	Het
Myh4	A	T	11: 67,133,689 (GRCm39)	N243Y	probably damaging	Het
Myorg	A	G	4: 41,497,996 (GRCm39)	Y545H	probably damaging	Het
Nfatc1	C	T	18: 80,679,110 (GRCm39)	M759I	probably benign	Het
Nipal4	A	G	11: 46,041,139 (GRCm39)	I352T	possibly damaging	Het
Nomo1	A	G	7: 45,683,329 (GRCm39)	E25G	possibly damaging	Het
Or10j27	A	G	1: 172,958,020 (GRCm39)	S255P	probably benign	Het
Or13a19	T	C	7: 139,903,065 (GRCm39)	I151T	probably benign	Het
Or14j7	A	G	17: 38,234,591 (GRCm39)	I45V	probably damaging	Het
Or1e32	T	C	11: 73,705,050 (GRCm39)	N286S	probably damaging	Het
Or4c116	T	A	2: 88,942,419 (GRCm39)	I146L	probably benign	Het
Or5p66	T	C	7: 107,886,264 (GRCm39)	D23G	probably benign	Het
Pabpn1l	A	G	8: 123,349,183 (GRCm39)	V78A	probably benign	Het
Pde6b	T	A	5: 108,568,203 (GRCm39)	I327N	possibly damaging	Het
Phrf1	T	C	7: 140,834,768 (GRCm39)		probably benign	Het
Pkm	C	T	9: 59,575,818 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,482,863 (GRCm39)	V1519I	probably benign	Het
Ppp2cb	T	C	8: 34,105,689 (GRCm39)		probably null	Het
Prickle2	A	G	6: 92,387,984 (GRCm39)	Y473H	probably benign	Het
Prpf3	A	G	3: 95,751,535 (GRCm39)	W389R	probably damaging	Het
Psme4	G	A	11: 30,765,264 (GRCm39)	E544K	possibly damaging	Het
Relb	A	T	7: 19,345,767 (GRCm39)	D395E	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,307,389 (GRCm39)	N683S	probably benign	Het
Rtel1	T	C	2: 180,964,596 (GRCm39)	C102R	probably benign	Het
Sel1l3	C	T	5: 53,301,379 (GRCm39)		probably benign	Het
Slc8a2	A	G	7: 15,878,887 (GRCm39)	T458A	probably benign	Het
Smc3	T	A	19: 53,629,340 (GRCm39)	M931K	probably benign	Het
Sorbs2	T	C	8: 46,249,539 (GRCm39)	V795A	probably benign	Het
Tgm3	A	G	2: 129,854,326 (GRCm39)	S2G	probably benign	Het
Tpbpa	T	C	13: 61,087,867 (GRCm39)	T75A	probably damaging	Het
Trub1	A	G	19: 57,473,495 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,328,604 (GRCm39)		probably null	Het
Ugt2a3	A	G	5: 87,475,065 (GRCm39)	V393A	possibly damaging	Het
Vav3	T	A	3: 109,470,151 (GRCm39)	M532K	possibly damaging	Het
Zfp616	A	T	11: 73,975,850 (GRCm39)	K706N	probably damaging	Het
Zkscan1	T	C	5: 138,091,432 (GRCm39)	F55S	probably damaging	Het

Other mutations in Ackr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Ackr4	APN	9	103,963,130 (GRCm39)	intron	probably benign
IGL01859:Ackr4	APN	9	103,963,336 (GRCm39)	intron	probably benign
IGL02088:Ackr4	APN	9	103,976,080 (GRCm39)	missense	probably damaging	0.99
R0108:Ackr4	UTSW	9	103,976,387 (GRCm39)	missense	probably benign	0.07
R0194:Ackr4	UTSW	9	103,976,679 (GRCm39)	missense	probably benign	0.31
R0208:Ackr4	UTSW	9	103,976,860 (GRCm39)	missense	probably benign
R0519:Ackr4	UTSW	9	103,976,650 (GRCm39)	missense	probably benign	0.02
R0594:Ackr4	UTSW	9	103,976,203 (GRCm39)	missense	possibly damaging	0.55
R4510:Ackr4	UTSW	9	103,975,930 (GRCm39)	missense	probably benign	0.02
R4511:Ackr4	UTSW	9	103,975,930 (GRCm39)	missense	probably benign	0.02
R5298:Ackr4	UTSW	9	103,976,086 (GRCm39)	missense	possibly damaging	0.91
R5961:Ackr4	UTSW	9	103,976,338 (GRCm39)	missense	probably damaging	1.00
R6402:Ackr4	UTSW	9	103,976,144 (GRCm39)	missense	possibly damaging	0.95
R6762:Ackr4	UTSW	9	103,976,867 (GRCm39)	missense	probably benign	0.06
R7080:Ackr4	UTSW	9	103,976,761 (GRCm39)	missense	probably damaging	1.00
R8218:Ackr4	UTSW	9	103,976,410 (GRCm39)	missense	probably benign	0.06
R8329:Ackr4	UTSW	9	103,976,660 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCATCCCAGAGACAAAGTTTACCG -3'
(R):5'- ATGCTGAATGGAGTGCCCTGTG -3'

Sequencing Primer
(F):5'- CATCCGTGAACTGCATTAACTG -3'
(R):5'- AGTGCCCTGTGTTCTTCTTG -3'

Posted On

2013-11-07