Mutagenetix > Incidental Mutation

Incidental Mutation 'R7080:Ackr4'

549468

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

045174-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103974881-104003842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103976761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 62 (V62A)

Ref Sequence

ENSEMBL: ENSMUSP00000075507 (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

probably damaging
Transcript: ENSMUST00000076147
AA Change: V62A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075507
Gene: ENSMUSG00000079355
AA Change: V62A

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

probably damaging
Transcript: ENSMUST00000188000
AA Change: V62A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140792
Gene: ENSMUSG00000079355
AA Change: V62A

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: V62A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

94% (47/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,116 (GRCm39)	E2162G	probably benign	Het
Atox1	T	A	11: 55,341,365 (GRCm39)	K57*	probably null	Het
Atp6v1e1	G	A	6: 120,799,350 (GRCm39)		probably benign	Het
Bmpr2	T	C	1: 59,906,842 (GRCm39)	V645A	probably benign	Het
Brwd1	T	C	16: 95,810,730 (GRCm39)	T1602A	probably benign	Het
Cdc42bpg	T	C	19: 6,365,219 (GRCm39)	V692A	probably damaging	Het
Cdca2	T	C	14: 67,935,551 (GRCm39)	D388G	probably damaging	Het
Celsr1	G	A	15: 85,816,652 (GRCm39)	R1764C	possibly damaging	Het
Copz2	G	T	11: 96,747,538 (GRCm39)	V174L	probably benign	Het
Dnaaf1	T	C	8: 120,309,335 (GRCm39)	L141P	probably damaging	Het
Fam170a	T	A	18: 50,413,740 (GRCm39)		probably null	Het
Fshr	A	T	17: 89,404,539 (GRCm39)		probably null	Het
Gbx1	C	T	5: 24,731,298 (GRCm39)	A173T	probably benign	Het
Gm3604	G	A	13: 62,518,109 (GRCm39)	A83V	probably damaging	Het
Gpr19	A	T	6: 134,847,419 (GRCm39)	V88D	probably damaging	Het
Hnrnpd	C	T	5: 100,124,392 (GRCm39)		probably null	Het
Homez	T	C	14: 55,095,112 (GRCm39)	S199G	probably benign	Het
Kit	T	C	5: 75,767,941 (GRCm39)	I108T	probably damaging	Het
Lrrc34	A	C	3: 30,688,705 (GRCm39)	Y199D	probably damaging	Het
Mapk12	T	C	15: 89,017,350 (GRCm39)	D208G	probably damaging	Het
Mon1a	A	G	9: 107,778,985 (GRCm39)	D403G	probably damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Nol11	G	A	11: 107,070,878 (GRCm39)	T307I	probably damaging	Het
Or10d5	A	G	9: 39,861,444 (GRCm39)	C208R	probably damaging	Het
Or52b4	A	T	7: 102,184,172 (GRCm39)	I73F	possibly damaging	Het
Or5aq1b	A	G	2: 86,902,083 (GRCm39)	Y132H	probably damaging	Het
Or6d15	A	T	6: 116,559,314 (GRCm39)	F198I	probably damaging	Het
Or8k28	A	T	2: 86,285,835 (GRCm39)	L260*	probably null	Het
Pcdhb16	C	T	18: 37,611,516 (GRCm39)	Q159*	probably null	Het
Phf19	G	A	2: 34,788,724 (GRCm39)		probably null	Het
Qrfpr	C	T	3: 36,234,198 (GRCm39)	R381H	probably benign	Het
Rad51ap2	A	G	12: 11,506,366 (GRCm39)	D96G	probably benign	Het
Ranbp1	T	C	16: 18,063,097 (GRCm39)	D93G	possibly damaging	Het
Reep1	A	G	6: 71,757,749 (GRCm39)	D116G	possibly damaging	Het
Rinl	T	C	7: 28,496,101 (GRCm39)	C361R	probably damaging	Het
Rps6kb1	T	C	11: 86,397,666 (GRCm39)	D393G	probably damaging	Het
Slc2a12	T	C	10: 22,541,216 (GRCm39)	V357A	probably benign	Het
Spryd3	T	C	15: 102,026,627 (GRCm39)	D348G	probably benign	Het
Syne2	G	A	12: 76,099,501 (GRCm39)	A569T	probably benign	Het
Tcstv5	T	C	13: 120,411,270 (GRCm39)	D112G	probably benign	Het
Thoc6	C	T	17: 23,892,503 (GRCm39)	R6Q	probably null	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Unc13b	C	T	4: 43,171,926 (GRCm39)	T918I	unknown	Het
Unc80	A	T	1: 66,685,680 (GRCm39)	H2268L	possibly damaging	Het
Urod	C	T	4: 116,849,838 (GRCm39)	A187T	probably damaging	Het
Usp46	G	T	5: 74,177,344 (GRCm39)	N205K	probably benign	Het
Wapl	T	C	14: 34,414,313 (GRCm39)	F392L	probably benign	Het
Zim1	T	C	7: 6,680,305 (GRCm39)	T453A	possibly 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
R0940:Ackr4	UTSW	9	103,976,831 (GRCm39)	missense	probably damaging	1.00
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
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'- AGGGCTGACGTTACTTTGC -3'
(R):5'- ATGCTGAATGGAGTGCCCTG -3'

Sequencing Primer
(F):5'- GGGCTGACGTTACTTTGCACATC -3'
(R):5'- GTCATCCAGCTCGGTACCATG -3'

Posted On

2019-05-15