Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01916:Ccr3'

179948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccr3

Ensembl Gene

ENSMUSG00000035448

Gene Name

C-C motif chemokine receptor 3

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01916

Quality Score

Status

Chromosome

Chromosomal Location

123822009-123831726 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123829589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 308 (V308D)

Ref Sequence

ENSEMBL: ENSMUSP00000039107 (fasta)

Gene Model

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

AlphaFold

P51678

Predicted Effect

probably damaging
Transcript: ENSMUST00000039171
AA Change: V308D

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

SMART Domains

Protein: ENSMUSP00000039107
Gene: ENSMUSG00000035448
AA Change: V308D

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

Coding Region Coverage

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,684,937 (GRCm39)	T187A	probably damaging	Het
A430005L14Rik	C	A	4: 154,045,997 (GRCm39)	F214L	possibly damaging	Het
A830018L16Rik	C	A	1: 11,818,331 (GRCm39)		probably benign	Het
Adgrd1	T	C	5: 129,209,902 (GRCm39)	S342P	probably benign	Het
Aldh4a1	A	G	4: 139,371,457 (GRCm39)	Y457C	probably damaging	Het
Ankrd7	A	T	6: 18,868,250 (GRCm39)	E124V	possibly damaging	Het
Atad5	T	A	11: 80,003,665 (GRCm39)		probably null	Het
Card14	T	C	11: 119,233,971 (GRCm39)	Y854H	probably benign	Het
Ccdc85c	T	C	12: 108,174,103 (GRCm39)	H355R	probably damaging	Het
Cep170	T	C	1: 176,567,476 (GRCm39)		probably benign	Het
Cmtr2	C	A	8: 110,948,580 (GRCm39)	Q297K	probably benign	Het
Col19a1	A	C	1: 24,573,322 (GRCm39)	L150R	unknown	Het
Cwf19l2	T	C	9: 3,477,869 (GRCm39)	I858T	possibly damaging	Het
Cyp39a1	C	T	17: 44,041,941 (GRCm39)	P383S	probably damaging	Het
Ddi2	C	T	4: 141,422,709 (GRCm39)		probably benign	Het
Dnah17	T	G	11: 118,016,114 (GRCm39)	I342L	probably benign	Het
Efhc1	T	C	1: 21,048,973 (GRCm39)	I462T	probably damaging	Het
Ephx4	A	T	5: 107,553,896 (GRCm39)		probably null	Het
Fam193b	A	G	13: 55,698,031 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,157,366 (GRCm39)	N2306D	possibly damaging	Het
Folr1	A	T	7: 101,507,947 (GRCm39)	H164Q	probably benign	Het
Fut10	T	C	8: 31,725,734 (GRCm39)	V163A	probably benign	Het
Gal3st4	G	A	5: 138,269,197 (GRCm39)	R83C	probably damaging	Het
Galnt16	T	C	12: 80,639,264 (GRCm39)		probably null	Het
Gata5	G	A	2: 179,968,734 (GRCm39)	S380F	possibly damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4787	A	T	12: 81,424,218 (GRCm39)	L647M	probably benign	Het
Gvin3	T	G	7: 106,201,033 (GRCm39)	H737P	probably benign	Het
Hcfc2	A	G	10: 82,570,217 (GRCm39)	K523E	possibly damaging	Het
Ift70a1	C	A	2: 75,811,223 (GRCm39)	V287L	probably damaging	Het
Igkv6-15	A	T	6: 70,383,458 (GRCm39)	Y114*	probably null	Het
Il10ra	A	T	9: 45,167,444 (GRCm39)	L369Q	probably damaging	Het
Il6st	A	G	13: 112,616,606 (GRCm39)	K51R	possibly damaging	Het
Kif26a	C	T	12: 112,143,328 (GRCm39)	P1194L	possibly damaging	Het
Kntc1	T	G	5: 123,939,976 (GRCm39)	L1590R	probably damaging	Het
Lipo3	G	T	19: 33,762,182 (GRCm39)	A105E	probably damaging	Het
Macf1	T	A	4: 123,335,423 (GRCm39)	S4382C	probably damaging	Het
Macf1	C	T	4: 123,369,830 (GRCm39)	E79K	probably damaging	Het
Nmnat2	T	C	1: 152,969,792 (GRCm39)	I195T	probably damaging	Het
Or11g25	A	G	14: 50,722,950 (GRCm39)	T12A	probably benign	Het
Pcdhb13	A	G	18: 37,576,914 (GRCm39)	T431A	possibly damaging	Het
Pcgf3	G	A	5: 108,634,045 (GRCm39)	G101D	probably benign	Het
Phip	T	C	9: 82,772,522 (GRCm39)	D1070G	possibly damaging	Het
Ren1	A	G	1: 133,286,150 (GRCm39)	H231R	probably benign	Het
Sox9	C	A	11: 112,675,500 (GRCm39)	Q230K	probably benign	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Stard9	T	A	2: 120,498,497 (GRCm39)	Y154N	probably damaging	Het
Thnsl1	A	T	2: 21,217,476 (GRCm39)	N410I	possibly damaging	Het
Tnfrsf21	A	T	17: 43,350,694 (GRCm39)	E286V	probably benign	Het
Trbv13-1	A	G	6: 41,093,246 (GRCm39)	R60G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wrn	T	A	8: 33,747,252 (GRCm39)	I1110F	possibly damaging	Het
Zfp777	G	T	6: 48,002,276 (GRCm39)	R649S	probably damaging	Het
Zmym6	T	A	4: 127,017,549 (GRCm39)	I1110N	probably damaging	Het

Other mutations in Ccr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07