Mutagenetix > Incidental Mutation

Incidental Mutation 'R5051:Ccr4'

394656

Institutional Source

Beutler Lab

Gene Symbol

Ccr4

Ensembl Gene

ENSMUSG00000047898

Gene Name

C-C motif chemokine receptor 4

Synonyms

Cmkbr4, CC CKR-4

MMRRC Submission

042641-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5051 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114319384-114333984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114321714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 117 (Y117C)

Ref Sequence

ENSEMBL: ENSMUSP00000150002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054414] [ENSMUST00000215425] [ENSMUST00000215959]

AlphaFold

P51680

Predicted Effect

probably damaging
Transcript: ENSMUST00000054414
AA Change: Y117C

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

SMART Domains

Protein: ENSMUSP00000062677
Gene: ENSMUSG00000047898
AA Change: Y117C

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	50	319	2.9e-11	PFAM
Pfam:7tm_1	56	304	3.2e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215425
AA Change: Y117C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215959

Meta Mutation Damage Score

0.9317

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased mortality, decreased tumor necrosis factor production, and decreased IL-1beta production following LPS administration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	G	A	11: 25,718,990 (GRCm39)	T51I	unknown	Het
Alms1	C	T	6: 85,604,916 (GRCm39)	Q2189*	probably null	Het
Ank1	A	T	8: 23,609,397 (GRCm39)	D1363V	probably damaging	Het
Ap3d1	T	G	10: 80,555,033 (GRCm39)	T431P	probably damaging	Het
Arnt	A	G	3: 95,377,648 (GRCm39)	T125A	probably benign	Het
Atp10a	TGTCCGTC	TGTC	7: 58,389,994 (GRCm39)		probably null	Het
Bscl2	A	T	19: 8,822,643 (GRCm39)	R195*	probably null	Het
Ccdc146	C	T	5: 21,508,081 (GRCm39)	V656I	possibly damaging	Het
Ccn6	A	G	10: 39,031,152 (GRCm39)	F124L	probably benign	Het
Cd55	T	A	1: 130,376,085 (GRCm39)	D355V	probably damaging	Het
Cntn6	T	A	6: 104,749,558 (GRCm39)	I259N	probably damaging	Het
Cspg4	A	G	9: 56,793,020 (GRCm39)	I252V	possibly damaging	Het
Dmbt1	T	C	7: 130,696,472 (GRCm39)	V895A	probably benign	Het
Ect2	A	G	3: 27,156,635 (GRCm39)	V775A	probably benign	Het
Gm14486	T	C	2: 30,548,889 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,756,393 (GRCm39)	N444S	possibly damaging	Het
Heatr5b	T	C	17: 79,102,703 (GRCm39)	D1225G	probably damaging	Het
Il1rl2	G	A	1: 40,382,254 (GRCm39)	V189I	probably benign	Het
Kif1a	G	A	1: 93,003,876 (GRCm39)		probably null	Het
Ltbr	T	A	6: 125,289,733 (GRCm39)	T154S	probably damaging	Het
Mrgpra6	C	T	7: 46,835,690 (GRCm39)	V244I	probably benign	Het
Myo15a	G	A	11: 60,378,251 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,204,106 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,268,913 (GRCm39)	N496K	possibly damaging	Het
Nkd2	A	G	13: 73,973,195 (GRCm39)	V147A	probably benign	Het
Nlrp3	G	C	11: 59,457,025 (GRCm39)	R1013P	probably benign	Het
Or4d11	C	A	19: 12,013,288 (GRCm39)	V273F	possibly damaging	Het
Or4k36	T	A	2: 111,146,599 (GRCm39)	Y258*	probably null	Het
Pdk2	T	C	11: 94,919,598 (GRCm39)	S263G	probably benign	Het
Pla2g4e	T	A	2: 120,004,785 (GRCm39)	I520F	probably damaging	Het
Plat	A	G	8: 23,263,688 (GRCm39)	T196A	probably benign	Het
Podn	T	A	4: 107,872,043 (GRCm39)	D400V	probably benign	Het
Poteg	T	C	8: 27,943,357 (GRCm39)	V147A	possibly damaging	Het
Prkar2a	A	G	9: 108,622,690 (GRCm39)	N315D	probably benign	Het
Rac2	A	G	15: 78,449,134 (GRCm39)	I13T	possibly damaging	Het
Rangap1	A	C	15: 81,594,664 (GRCm39)	D388E	probably benign	Het
Relch	T	A	1: 105,619,711 (GRCm39)	N313K	possibly damaging	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Supv3l1	A	C	10: 62,279,196 (GRCm39)	I240S	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Tead4	A	C	6: 128,271,262 (GRCm39)		probably benign	Het
Tex10	G	A	4: 48,460,019 (GRCm39)	A444V	possibly damaging	Het
Tgds	A	T	14: 118,365,639 (GRCm39)	I73K	probably damaging	Het
Tmem117	C	A	15: 94,612,794 (GRCm39)	T110K	probably damaging	Het
Trim30a	T	A	7: 104,060,913 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,548,636 (GRCm39)	T636I	probably damaging	Het
Ybey	G	A	10: 76,304,173 (GRCm39)	R10W	probably damaging	Het
Zap70	A	G	1: 36,820,532 (GRCm39)	I576V	probably benign	Het
Zfp64	T	C	2: 168,768,304 (GRCm39)	D436G	probably damaging	Het

Other mutations in Ccr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02625:Ccr4	APN	9	114,321,401 (GRCm39)	missense	probably damaging	1.00
kentucky	UTSW	9	114,321,714 (GRCm39)	missense	probably damaging	1.00
P4748:Ccr4	UTSW	9	114,321,906 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Ccr4	UTSW	9	114,321,261 (GRCm39)	missense	probably benign	0.08
R1117:Ccr4	UTSW	9	114,321,085 (GRCm39)	missense	probably benign	0.00
R1542:Ccr4	UTSW	9	114,321,073 (GRCm39)	missense	probably benign
R1954:Ccr4	UTSW	9	114,321,753 (GRCm39)	missense	probably damaging	0.99
R2047:Ccr4	UTSW	9	114,321,633 (GRCm39)	missense	probably damaging	1.00
R3157:Ccr4	UTSW	9	114,321,350 (GRCm39)	missense	probably benign	0.04
R3158:Ccr4	UTSW	9	114,321,350 (GRCm39)	missense	probably benign	0.04
R3159:Ccr4	UTSW	9	114,321,350 (GRCm39)	missense	probably benign	0.04
R4868:Ccr4	UTSW	9	114,321,901 (GRCm39)	missense	probably benign
R6102:Ccr4	UTSW	9	114,325,561 (GRCm39)	splice site	probably null
R6475:Ccr4	UTSW	9	114,322,047 (GRCm39)	missense	probably benign	0.00
R6661:Ccr4	UTSW	9	114,325,031 (GRCm39)	intron	probably benign
R7241:Ccr4	UTSW	9	114,322,024 (GRCm39)	missense	probably benign
R7394:Ccr4	UTSW	9	114,320,994 (GRCm39)	missense	probably benign
R8379:Ccr4	UTSW	9	114,321,235 (GRCm39)	missense	probably benign	0.00
R8683:Ccr4	UTSW	9	114,321,216 (GRCm39)	missense	probably damaging	1.00
R8746:Ccr4	UTSW	9	114,321,918 (GRCm39)	missense	probably damaging	1.00
R8902:Ccr4	UTSW	9	114,325,620 (GRCm39)	intron	probably benign
Z1177:Ccr4	UTSW	9	114,321,907 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTGAACAAGAGGCCTG -3'
(R):5'- TATCAAGGCATTTGGGGAGG -3'

Sequencing Primer
(F):5'- CCTGGGAGGGAGGCAAACAC -3'
(R):5'- ATCAAGGCATTTGGGGAGGTCTTC -3'

Posted On

2016-06-15