Mutagenetix > Incidental Mutation

Incidental Mutation 'R0118:Ccr3'

20935

Institutional Source

Beutler Lab

Gene Symbol

Ccr3

Ensembl Gene

ENSMUSG00000035448

Gene Name

C-C motif chemokine receptor 3

Synonyms

Cmkbr3, MIP-1 alphaRL2, CKR3, CC-CKR3

MMRRC Submission

038404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0118 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

123822009-123831726 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 123829647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 327 (Y327*)

Ref Sequence

ENSEMBL: ENSMUSP00000039107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039171]

AlphaFold

P51678

Predicted Effect

probably null
Transcript: ENSMUST00000039171
AA Change: Y327*

SMART Domains

Protein: ENSMUSP00000039107
Gene: ENSMUSG00000035448
AA Change: Y327*

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	49	320	7.9e-9	PFAM
Pfam:7tm_1	55	305	2.8e-52	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 89.3%
20x: 67.4%

Validation Efficiency

98% (50/51)

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 receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in impaired eosinophil trafficking to the lungs and small intestine, and in increased bronchorestriction following methacholine challenge. [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
Adamts15	T	C	9: 30,823,040 (GRCm39)	R343G	probably damaging	Het
Asxl2	T	G	12: 3,546,923 (GRCm39)	V569G	probably damaging	Het
Azin2	A	C	4: 128,843,430 (GRCm39)	H85Q	probably damaging	Het
Cacna1a	C	T	8: 85,262,712 (GRCm39)	R324C	probably damaging	Het
Cers2	T	C	3: 95,227,537 (GRCm39)	F55S	probably benign	Het
Cic	C	T	7: 24,985,459 (GRCm39)	S301L	probably damaging	Het
Cntnap2	T	C	6: 45,037,326 (GRCm39)		probably null	Het
Cpn2	T	C	16: 30,079,186 (GRCm39)	R172G	probably benign	Het
Ctdnep1	T	C	11: 69,879,557 (GRCm39)		probably null	Het
Dennd3	T	A	15: 73,436,925 (GRCm39)	Y1051N	probably damaging	Het
Dmap1	T	G	4: 117,533,680 (GRCm39)	Y196S	probably damaging	Het
Entpd7	G	A	19: 43,692,751 (GRCm39)	W102*	probably null	Het
Frem2	A	T	3: 53,442,664 (GRCm39)	C2624*	probably null	Het
Gdpd3	A	G	7: 126,370,165 (GRCm39)	Y238C	probably damaging	Het
Gjb3	A	G	4: 127,220,451 (GRCm39)	V27A	probably damaging	Het
Kat6b	T	C	14: 21,720,042 (GRCm39)	F1465L	probably damaging	Het
Klra17	A	T	6: 129,808,552 (GRCm39)	M227K	probably benign	Het
Map6	A	G	7: 98,966,824 (GRCm39)	D348G	possibly damaging	Het
Mapkbp1	T	C	2: 119,855,696 (GRCm39)	S1472P	probably benign	Het
Megf6	C	A	4: 154,339,098 (GRCm39)	P545Q	probably damaging	Het
Mertk	C	T	2: 128,601,086 (GRCm39)	R357W	probably damaging	Het
Mesd	T	A	7: 83,544,835 (GRCm39)	I104N	probably damaging	Het
Mrm3	T	A	11: 76,140,781 (GRCm39)	V263E	possibly damaging	Het
Ndst4	T	A	3: 125,405,210 (GRCm39)	Y488*	probably null	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nfs1	T	C	2: 155,976,444 (GRCm39)	H150R	probably damaging	Het
Odad3	A	T	9: 21,906,353 (GRCm39)	N224K	probably benign	Het
Or1n1b	A	G	2: 36,780,035 (GRCm39)	M275T	probably benign	Het
Or8b56	T	C	9: 38,739,154 (GRCm39)	S50P	possibly damaging	Het
Or8g19	T	A	9: 39,055,399 (GRCm39)	M1K	probably null	Het
Or9q1	A	G	19: 13,804,929 (GRCm39)	F277S	possibly damaging	Het
Pcdh8	T	C	14: 80,004,848 (GRCm39)	Y1059C	probably damaging	Het
Pik3r5	T	A	11: 68,381,306 (GRCm39)	L164Q	probably damaging	Het
Polr3g	T	C	13: 81,824,240 (GRCm39)		probably benign	Het
Ppm1e	T	A	11: 87,122,564 (GRCm39)	K464N	probably benign	Het
Rims1	T	C	1: 22,416,631 (GRCm39)	T1037A	probably damaging	Het
Rpgrip1l	A	T	8: 91,996,750 (GRCm39)	I108N	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Spem1	T	C	11: 69,712,371 (GRCm39)	K98E	possibly damaging	Het
St7l	T	C	3: 104,796,619 (GRCm39)	V237A	probably damaging	Het
Tbc1d16	T	C	11: 119,048,642 (GRCm39)	H337R	probably damaging	Het
Tbc1d32	T	A	10: 55,893,701 (GRCm39)	I1291F	probably benign	Het
Tnfaip6	G	T	2: 51,933,827 (GRCm39)	E61*	probably null	Het
Trib2	A	T	12: 15,843,929 (GRCm39)	W102R	probably damaging	Het
Uimc1	G	T	13: 55,233,457 (GRCm39)	N66K	probably damaging	Het
Vmn1r63	T	A	7: 5,805,838 (GRCm39)	T265S	probably benign	Het
Vps35	G	A	8: 86,021,582 (GRCm39)	T3I	probably benign	Het
Yeats2	T	A	16: 19,975,692 (GRCm39)	L63*	probably null	Het
Zfp282	A	G	6: 47,869,866 (GRCm39)	R304G	probably benign	Het

Other mutations in Ccr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Ccr3	APN	9	123,829,589 (GRCm39)	missense	probably damaging	1.00
IGL03388:Ccr3	APN	9	123,828,658 (GRCm39)	splice site	probably benign
PIT4810001:Ccr3	UTSW	9	123,829,645 (GRCm39)	missense	probably benign	0.00
R0077:Ccr3	UTSW	9	123,829,061 (GRCm39)	missense	probably damaging	1.00
R0504:Ccr3	UTSW	9	123,829,478 (GRCm39)	missense	possibly damaging	0.69
R0576:Ccr3	UTSW	9	123,829,046 (GRCm39)	missense	probably damaging	1.00
R0606:Ccr3	UTSW	9	123,828,839 (GRCm39)	missense	probably benign	0.07
R2108:Ccr3	UTSW	9	123,829,336 (GRCm39)	missense	possibly damaging	0.88
R3826:Ccr3	UTSW	9	123,829,714 (GRCm39)	missense	possibly damaging	0.95
R4583:Ccr3	UTSW	9	123,829,477 (GRCm39)	missense	probably benign	0.03
R4807:Ccr3	UTSW	9	123,829,334 (GRCm39)	missense	probably damaging	1.00
R4823:Ccr3	UTSW	9	123,828,718 (GRCm39)	missense	probably damaging	1.00
R4824:Ccr3	UTSW	9	123,828,809 (GRCm39)	missense	probably damaging	1.00
R4932:Ccr3	UTSW	9	123,829,043 (GRCm39)	missense	probably damaging	1.00
R5108:Ccr3	UTSW	9	123,828,968 (GRCm39)	missense	probably benign	0.05
R5590:Ccr3	UTSW	9	123,828,830 (GRCm39)	missense	probably damaging	1.00
R5610:Ccr3	UTSW	9	123,829,518 (GRCm39)	missense	probably damaging	1.00
R5981:Ccr3	UTSW	9	123,828,820 (GRCm39)	missense	probably damaging	0.99
R7764:Ccr3	UTSW	9	123,829,451 (GRCm39)	missense	probably benign	0.01
R7780:Ccr3	UTSW	9	123,828,989 (GRCm39)	missense	probably benign
R8035:Ccr3	UTSW	9	123,829,012 (GRCm39)	missense	probably benign
R8422:Ccr3	UTSW	9	123,828,799 (GRCm39)	missense	probably damaging	1.00
R8769:Ccr3	UTSW	9	123,829,096 (GRCm39)	missense	possibly damaging	0.65
R9169:Ccr3	UTSW	9	123,828,949 (GRCm39)	missense	probably benign	0.09
R9197:Ccr3	UTSW	9	123,829,732 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGCTATCCAGAGGGTGAAGAAGAC -3'
(R):5'- TGAGAGCATCAGCATTGCATGGAG -3'

Sequencing Primer
(F):5'- TAAAACTCTGCTGAGATGTCCC -3'
(R):5'- ATGACTGAGCTAGAGGTCATTG -3'

Posted On

2013-04-11