Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Cxcr2'

100104

Institutional Source

Beutler Lab

Gene Symbol

Cxcr2

Ensembl Gene

ENSMUSG00000026180

Gene Name

C-X-C motif chemokine receptor 2

Synonyms

CD128, IL-8Rh, Gpcr16, IL-8rb, Il8rb, IL8RA, Cmkar2

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74193153-74200405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74197527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 7 (D7V)

Ref Sequence

ENSEMBL: ENSMUSP00000102512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027372] [ENSMUST00000106899]

AlphaFold

P35343

Predicted Effect

probably benign
Transcript: ENSMUST00000027372
AA Change: D7V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027372
Gene: ENSMUSG00000026180
AA Change: D7V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	64	313	1.2e-53	PFAM
low complexity region	346	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106899
AA Change: D7V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102512
Gene: ENSMUSG00000026180
AA Change: D7V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	64	313	1.1e-58	PFAM
low complexity region	346	358	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

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 member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but exhibit splenomegaly, lymphadenopathy, and increased susceptibility to various pathogens due to impaired neutrophil recruitment and decreased pathogen clearance during innate immune responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Tmprss13	A	T	9: 45,239,945 (GRCm39)	R84S	unknown	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	Het

Other mutations in Cxcr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02128:Cxcr2	APN	1	74,198,153 (GRCm39)	missense	probably benign	0.07
IGL03384:Cxcr2	APN	1	74,197,950 (GRCm39)	missense	probably damaging	0.98
copperas	UTSW	1	74,197,619 (GRCm39)	missense	probably damaging	0.98
R0780:Cxcr2	UTSW	1	74,198,334 (GRCm39)	missense	probably damaging	0.97
R1180:Cxcr2	UTSW	1	74,197,527 (GRCm39)	missense	probably benign	0.04
R1448:Cxcr2	UTSW	1	74,197,527 (GRCm39)	missense	probably benign	0.04
R1535:Cxcr2	UTSW	1	74,198,217 (GRCm39)	missense	probably damaging	1.00
R1851:Cxcr2	UTSW	1	74,198,438 (GRCm39)	missense	probably benign	0.01
R1852:Cxcr2	UTSW	1	74,198,438 (GRCm39)	missense	probably benign	0.01
R2897:Cxcr2	UTSW	1	74,198,130 (GRCm39)	missense	probably benign	0.04
R2898:Cxcr2	UTSW	1	74,198,130 (GRCm39)	missense	probably benign	0.04
R4430:Cxcr2	UTSW	1	74,198,004 (GRCm39)	missense	probably benign	0.01
R4542:Cxcr2	UTSW	1	74,197,688 (GRCm39)	missense	probably benign	0.02
R5625:Cxcr2	UTSW	1	74,197,991 (GRCm39)	nonsense	probably null
R5996:Cxcr2	UTSW	1	74,197,619 (GRCm39)	missense	probably damaging	0.98
R6737:Cxcr2	UTSW	1	74,197,790 (GRCm39)	missense	probably benign
R7206:Cxcr2	UTSW	1	74,198,213 (GRCm39)	missense	possibly damaging	0.69
R7577:Cxcr2	UTSW	1	74,198,074 (GRCm39)	missense	probably benign	0.00
R7717:Cxcr2	UTSW	1	74,197,998 (GRCm39)	missense	probably benign	0.05
R7873:Cxcr2	UTSW	1	74,198,166 (GRCm39)	missense	probably benign	0.14
R8300:Cxcr2	UTSW	1	74,198,333 (GRCm39)	missense	probably benign	0.01
R9224:Cxcr2	UTSW	1	74,197,756 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-01-15