Mutagenetix > Incidental Mutation

Incidental Mutation 'R7394:Ccr4'

573672

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

045476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7394 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114319384-114333984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114320994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 357 (R357H)

Ref Sequence

ENSEMBL: ENSMUSP00000062677 (fasta)

Gene Model

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

AlphaFold

P51680

Predicted Effect

probably benign
Transcript: ENSMUST00000054414
AA Change: R357H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062677
Gene: ENSMUSG00000047898
AA Change: R357H

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 benign
Transcript: ENSMUST00000215425
AA Change: R357H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215959

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (66/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,445,038 (GRCm39)	I208V	probably benign	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Aldh1l2	T	A	10: 83,338,321 (GRCm39)	I646F	probably damaging	Het
Alms1	C	T	6: 85,599,205 (GRCm39)	P1344S	possibly damaging	Het
Ank2	T	A	3: 126,730,302 (GRCm39)	I711L	possibly damaging	Het
Ankrd6	T	C	4: 32,821,298 (GRCm39)	N251D	probably damaging	Het
Ap3m1	T	C	14: 21,088,147 (GRCm39)	T304A	probably benign	Het
Arhgef39	T	C	4: 43,499,532 (GRCm39)	T26A	possibly damaging	Het
Carnmt1	G	T	19: 18,648,201 (GRCm39)		probably benign	Het
Cd4	T	A	6: 124,850,004 (GRCm39)	M104L	probably benign	Het
Cd74	A	T	18: 60,936,965 (GRCm39)		probably benign	Het
Cdcp1	T	C	9: 123,002,878 (GRCm39)	Y731C	probably damaging	Het
Cdyl2	A	G	8: 117,350,790 (GRCm39)	S114P	not run	Het
Cenpv	T	C	11: 62,427,114 (GRCm39)	D148G	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap57	T	A	4: 118,450,334 (GRCm39)	Y596F	probably benign	Het
Clec4a2	C	A	6: 123,116,079 (GRCm39)	A122E	unknown	Het
Col4a2	A	G	8: 11,496,184 (GRCm39)	T1602A	probably benign	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2j11	A	T	4: 96,204,677 (GRCm39)	Y290N	probably benign	Het
Dhx38	A	T	8: 110,283,155 (GRCm39)	V554E	probably damaging	Het
Ebf2	T	C	14: 67,474,975 (GRCm39)	V70A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam217a	A	T	13: 35,094,262 (GRCm39)	I499K	possibly damaging	Het
Fras1	C	A	5: 96,860,309 (GRCm39)	Y2118*	probably null	Het
Gm3248	A	T	14: 5,945,781 (GRCm38)		probably null	Het
Gm5460	T	G	14: 33,765,879 (GRCm39)	D165E	possibly damaging	Het
Grk4	A	T	5: 34,908,962 (GRCm39)	N490Y	probably benign	Het
Iglc2	T	A	16: 19,013,886 (GRCm39)	K59*	probably null	Het
Iqsec3	T	A	6: 121,363,569 (GRCm39)	H895L	possibly damaging	Het
Itgb7	A	G	15: 102,127,689 (GRCm39)	S410P	probably damaging	Het
Kmt2d	C	A	15: 98,754,265 (GRCm39)	V1613F	unknown	Het
Lama1	T	C	17: 68,024,256 (GRCm39)	L118P		Het
Lrrc25	A	T	8: 71,070,830 (GRCm39)	S204C	possibly damaging	Het
Malrd1	A	G	2: 15,700,010 (GRCm39)	D619G	unknown	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Mup17	G	A	4: 61,512,635 (GRCm39)	S86F	probably benign	Het
Nbeal2	C	T	9: 110,459,257 (GRCm39)		probably null	Het
Nfkb1	A	C	3: 135,319,458 (GRCm39)	V291G	possibly damaging	Het
Nomo1	G	T	7: 45,715,903 (GRCm39)	V757F	probably benign	Het
Nutm2	T	A	13: 50,624,043 (GRCm39)	S247T	probably damaging	Het
Or2at1	C	A	7: 99,416,553 (GRCm39)	H61Q	probably damaging	Het
Or4c120	C	T	2: 89,000,705 (GRCm39)	V284I	probably benign	Het
Or4f4-ps1	G	T	2: 111,330,241 (GRCm39)	A215S	probably damaging	Het
Or7g12	T	A	9: 18,900,006 (GRCm39)	C241S	probably damaging	Het
Or9k2b	T	A	10: 130,016,123 (GRCm39)	I209F	probably damaging	Het
Pcdhb14	A	G	18: 37,581,961 (GRCm39)	I356V	probably benign	Het
Pnkp	T	A	7: 44,508,102 (GRCm39)	S142T	probably damaging	Het
Ppia	T	C	11: 6,369,218 (GRCm39)	S99P	possibly damaging	Het
Prss47	C	T	13: 65,192,807 (GRCm39)	V325I	probably benign	Het
Ptgr3	C	T	18: 84,106,315 (GRCm39)	A9V	probably benign	Het
Ptk7	T	C	17: 46,902,683 (GRCm39)	D34G	probably damaging	Het
Pwp2	C	T	10: 78,018,314 (GRCm39)	G126R	probably damaging	Het
Rasa3	G	T	8: 13,645,353 (GRCm39)	D195E	probably benign	Het
Rnf150	T	A	8: 83,717,100 (GRCm39)	Y202*	probably null	Het
Sh2d1b2	T	C	1: 170,075,716 (GRCm39)	V50A	probably damaging	Het
Slc30a4	C	T	2: 122,527,224 (GRCm39)	V390I	possibly damaging	Het
Slc30a9	G	T	5: 67,510,109 (GRCm39)		probably null	Het
Slc8a3	T	A	12: 81,260,832 (GRCm39)		probably null	Het
Smpd3	G	A	8: 106,991,642 (GRCm39)	R304W	probably damaging	Het
Snta1	A	G	2: 154,218,780 (GRCm39)	S490P	probably damaging	Het
Srcap	T	G	7: 127,134,000 (GRCm39)	M887R	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sult2a3	T	C	7: 13,845,449 (GRCm39)	T137A	probably benign	Het
Tspoap1	C	T	11: 87,656,945 (GRCm39)	Q367*	probably null	Het
Uroc1	C	T	6: 90,322,315 (GRCm39)	R280C	probably damaging	Het
Ush2a	T	C	1: 188,643,613 (GRCm39)	I4325T	possibly damaging	Het
Vmn1r32	A	G	6: 66,530,173 (GRCm39)	I201T	probably benign	Het
Zbtb47	T	A	9: 121,596,411 (GRCm39)	M626K	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
R5051:Ccr4	UTSW	9	114,321,714 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGGGGTGATTTCCTCCACC -3'
(R):5'- GAAACCCTGGCCTTCATTCAC -3'

Sequencing Primer
(F):5'- AGCAGGGCTCTGAACCTCTTG -3'
(R):5'- ACTGCTGCCTTAACCCCG -3'

Posted On

2019-09-13