Mutagenetix > Incidental Mutation

Incidental Mutation 'R5108:Ccr3'

393679

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

042696-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123822009-123831726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123828968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 101 (N101S)

Ref Sequence

ENSEMBL: ENSMUSP00000039107 (fasta)

Gene Model

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

AlphaFold

P51678

Predicted Effect

probably benign
Transcript: ENSMUST00000039171
AA Change: N101S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039107
Gene: ENSMUSG00000035448
AA Change: N101S

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (79/80)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,094,207 (GRCm39)	N94Y	probably damaging	Het
Ak2	A	G	4: 128,896,034 (GRCm39)	T104A	probably damaging	Het
Alox12b	G	T	11: 69,048,208 (GRCm39)	A46S	probably benign	Het
Ank1	G	T	8: 23,622,571 (GRCm39)	V1662F	probably benign	Het
Anxa3	T	C	5: 96,978,273 (GRCm39)	I219T	possibly damaging	Het
Aoc1l3	C	T	6: 48,965,504 (GRCm39)	T504I	probably damaging	Het
Arhgap40	G	A	2: 158,389,599 (GRCm39)	V588M	probably damaging	Het
Arhgef38	T	C	3: 132,843,029 (GRCm39)	T514A	probably benign	Het
Ascl4	C	A	10: 85,764,422 (GRCm39)	A23E	probably benign	Het
Bcl11b	T	C	12: 107,931,985 (GRCm39)	T196A	probably benign	Het
C1ra	A	T	6: 124,499,881 (GRCm39)	Y689F	probably damaging	Het
Cep70	A	T	9: 99,145,865 (GRCm39)		probably null	Het
Ces1b	A	G	8: 93,798,541 (GRCm39)	V215A	probably damaging	Het
Cndp1	A	T	18: 84,650,186 (GRCm39)	I169N	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo2	A	G	4: 148,250,486 (GRCm39)	Q275R	probably damaging	Het
Fbxo44	T	C	4: 148,243,020 (GRCm39)	N133S	probably damaging	Het
Fzr1	C	T	10: 81,205,284 (GRCm39)		probably benign	Het
Grn	T	C	11: 102,325,228 (GRCm39)	S213P	probably benign	Het
Ifi203	A	T	1: 173,751,580 (GRCm39)	C414S	probably damaging	Het
Igfn1	C	T	1: 135,910,179 (GRCm39)	R135H	probably benign	Het
Kcnk10	T	C	12: 98,401,560 (GRCm39)	M358V	probably benign	Het
Kcnn2	A	T	18: 45,725,122 (GRCm39)	Y471F	probably damaging	Het
Klhl20	A	T	1: 160,926,820 (GRCm39)	V391E	probably damaging	Het
Krt1c	C	T	15: 101,721,721 (GRCm39)	G440D	possibly damaging	Het
Lpin1	A	T	12: 16,623,716 (GRCm39)	Y223N	probably benign	Het
Luzp2	G	A	7: 54,915,038 (GRCm39)	C321Y	probably damaging	Het
Mcm3ap	T	C	10: 76,338,536 (GRCm39)	V1388A	probably benign	Het
Mdga2	A	T	12: 66,533,515 (GRCm39)	H223Q	probably benign	Het
Mgat4e	G	T	1: 134,468,961 (GRCm39)	P361Q	probably benign	Het
Mylk3	A	T	8: 86,085,721 (GRCm39)	I208N	possibly damaging	Het
Myom2	T	A	8: 15,182,667 (GRCm39)	V1368E	probably damaging	Het
Mypn	C	T	10: 62,972,073 (GRCm39)	D656N	probably damaging	Het
Nat10	C	A	2: 103,562,548 (GRCm39)	R596L	probably damaging	Het
Nek8	T	C	11: 78,063,353 (GRCm39)	D137G	probably damaging	Het
Neurl1a	A	G	19: 47,246,074 (GRCm39)	K552E	probably damaging	Het
Npdc1	C	T	2: 25,298,667 (GRCm39)	H260Y	probably damaging	Het
Nuggc	A	T	14: 65,876,129 (GRCm39)	I581F	probably damaging	Het
Or8d23	T	A	9: 38,842,151 (GRCm39)	I228N	probably damaging	Het
P2rx6	T	C	16: 17,380,037 (GRCm39)	Y54H	probably damaging	Het
Pcmtd2	A	G	2: 181,486,216 (GRCm39)	E112G	probably damaging	Het
Pcnx4	G	A	12: 72,620,855 (GRCm39)	V892I	probably benign	Het
Pdss1	T	A	2: 22,796,895 (GRCm39)	V136E	possibly damaging	Het
Pias3	T	C	3: 96,612,253 (GRCm39)	L561P	possibly damaging	Het
Pomgnt1	G	A	4: 116,013,453 (GRCm39)		probably benign	Het
Scn2a	C	T	2: 65,518,974 (GRCm39)	T400I	probably damaging	Het
Sec24d	T	A	3: 123,099,434 (GRCm39)		probably null	Het
Sftpb	T	G	6: 72,281,640 (GRCm39)	L11R	probably damaging	Het
Slc22a19	A	G	19: 7,688,536 (GRCm39)	I8T	probably benign	Het
Slc22a30	A	G	19: 8,363,790 (GRCm39)	S266P	probably damaging	Het
Slc36a2	C	A	11: 55,050,214 (GRCm39)	G465W	probably damaging	Het
Slc4a2	G	A	5: 24,644,331 (GRCm39)	M976I	probably damaging	Het
Smcr8	C	T	11: 60,670,696 (GRCm39)	Q615*	probably null	Het
Sobp	T	C	10: 43,036,815 (GRCm39)	E41G	probably damaging	Het
Spopfm1	C	T	3: 94,173,142 (GRCm39)	S50L	probably damaging	Het
Spz1	A	T	13: 92,711,554 (GRCm39)	C307*	probably null	Het
Sult1d1	C	T	5: 87,711,728 (GRCm39)		probably null	Het
Tas2r110	T	C	6: 132,845,668 (GRCm39)	M233T	probably damaging	Het
Tmc3	C	A	7: 83,269,156 (GRCm39)	S781R	probably damaging	Het
Tmem234	G	T	4: 129,495,730 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,882,078 (GRCm39)	Q645L	probably benign	Het
Ttn	C	A	2: 76,565,055 (GRCm39)	V28391F	probably damaging	Het
Txnrd3	G	T	6: 89,650,016 (GRCm39)	A425S	probably benign	Het
Ubr1	C	T	2: 120,793,903 (GRCm39)	G94R	probably benign	Het
Ufl1	A	G	4: 25,269,026 (GRCm39)		probably null	Het
Utp20	T	C	10: 88,604,735 (GRCm39)	D1720G	probably benign	Het
Vmn1r13	T	A	6: 57,186,901 (GRCm39)	M20K	probably benign	Het
Vmn1r61	A	G	7: 5,613,519 (GRCm39)	I265T	probably benign	Het
Zfp120	T	C	2: 149,961,862 (GRCm39)	T29A	probably damaging	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
R0118:Ccr3	UTSW	9	123,829,647 (GRCm39)	nonsense	probably null
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
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'- TCAGAATCAAAGAGCTGGGGTC -3'
(R):5'- AGGCCCCAGGTAATGATACTGG -3'

Sequencing Primer
(F):5'- AAGAGCTGGGGTCATGGCTC -3'
(R):5'- CCCCAGGTAATGATACTGGTGATAG -3'

Posted On

2016-06-15