Mutagenetix > Incidental Mutation

Incidental Mutation 'R7873:Cxcr2'

608214

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

045925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74193153-74200405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74198166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 220 (L220P)

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: L220P

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000027372
Gene: ENSMUSG00000026180
AA Change: L220P

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: L220P

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102512
Gene: ENSMUSG00000026180
AA Change: L220P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,684,091 (GRCm39)	I229F	probably benign	Het
Abca14	T	C	7: 119,888,792 (GRCm39)	L1246S	probably benign	Het
Abtb3	T	C	10: 85,466,989 (GRCm39)	V685A	possibly damaging	Het
Acacb	A	C	5: 114,361,339 (GRCm39)	S1340R	possibly damaging	Het
Ankrd6	A	T	4: 32,806,499 (GRCm39)	S585T	possibly damaging	Het
Ark2c	T	C	18: 77,554,449 (GRCm39)	D248G	possibly damaging	Het
Ccdc54	A	G	16: 50,410,672 (GRCm39)	V198A	probably benign	Het
Cnga4	A	G	7: 105,056,249 (GRCm39)	I387V	probably damaging	Het
Creg1	G	T	1: 165,597,448 (GRCm39)	D141Y	probably damaging	Het
Dennd5a	T	A	7: 109,526,141 (GRCm39)	I344F	probably damaging	Het
Dysf	A	G	6: 84,060,747 (GRCm39)	N448S	probably benign	Het
Efcab6	A	G	15: 83,902,826 (GRCm39)		probably null	Het
Elf2	C	A	3: 51,164,099 (GRCm39)	V489F	probably damaging	Het
Elmod2	G	T	8: 84,057,848 (GRCm39)	H12N	probably benign	Het
Eln	C	T	5: 134,740,041 (GRCm39)	G618E	unknown	Het
Fbxo33	G	T	12: 59,265,807 (GRCm39)	S153R	possibly damaging	Het
Fbxw7	A	T	3: 84,833,071 (GRCm39)	I38F	possibly damaging	Het
Flnc	G	A	6: 29,456,990 (GRCm39)	V2329I	possibly damaging	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gpr155	T	C	2: 73,173,934 (GRCm39)	E825G	possibly damaging	Het
Grk3	A	T	5: 113,077,552 (GRCm39)	M405K	probably benign	Het
H2bc7	A	T	13: 23,758,244 (GRCm39)	Y41N	probably damaging	Het
Hace1	T	C	10: 45,548,883 (GRCm39)	V597A	possibly damaging	Het
Ido1	A	G	8: 25,074,758 (GRCm39)	F295S	probably damaging	Het
Ighe	T	A	12: 113,234,942 (GRCm39)	E406V		Het
Ighv1-31	G	T	12: 114,793,274 (GRCm39)	A15E	probably benign	Het
Ighv1-75	A	T	12: 115,797,988 (GRCm39)	L10H	probably damaging	Het
Inpp5e	T	A	2: 26,297,957 (GRCm39)	K215*	probably null	Het
Iqcn	A	G	8: 71,163,989 (GRCm39)	M1061V	probably benign	Het
Krt18	C	T	15: 101,939,391 (GRCm39)	T288I	probably benign	Het
Lrwd1	A	T	5: 136,152,792 (GRCm39)	I490N	probably benign	Het
Macf1	T	A	4: 123,398,344 (GRCm39)		probably null	Het
Mapk8ip3	A	G	17: 25,125,146 (GRCm39)	V482A	probably benign	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Mdk	A	G	2: 91,761,773 (GRCm39)	F7S	probably benign	Het
Mycbp2	G	A	14: 103,393,582 (GRCm39)	P2993L	probably damaging	Het
Niban3	A	T	8: 72,054,892 (GRCm39)	I193F	probably damaging	Het
Nme4	A	T	17: 26,312,862 (GRCm39)	Y99N	probably damaging	Het
Nr1d2	G	A	14: 18,216,656 (GRCm38)	R171*	probably null	Het
Or10h28	A	G	17: 33,488,348 (GRCm39)	I217V	probably benign	Het
Osgep	G	T	14: 51,153,347 (GRCm39)	T326K	probably damaging	Het
Pdgfd	C	T	9: 6,337,271 (GRCm39)	T201M	probably benign	Het
Pdk4	T	C	6: 5,487,086 (GRCm39)	D320G	probably benign	Het
Pelp1	A	T	11: 70,285,552 (GRCm39)	V772D	probably damaging	Het
Pkdrej	T	A	15: 85,700,724 (GRCm39)	R1737S	probably benign	Het
Ppp1r13b	A	T	12: 111,801,320 (GRCm39)	Y578N	probably damaging	Het
Ppp1r3b	A	C	8: 35,851,329 (GRCm39)	K56T	probably benign	Het
Prdm11	G	T	2: 92,819,628 (GRCm39)	H261N	probably benign	Het
Preb	T	A	5: 31,116,109 (GRCm39)	N166I	probably benign	Het
Psd3	T	C	8: 68,335,634 (GRCm39)	K681R	possibly damaging	Het
Ptgs1	G	A	2: 36,141,292 (GRCm39)	V580I	probably damaging	Het
Ptpro	T	A	6: 137,407,737 (GRCm39)	S949T	probably benign	Het
Pum2	A	G	12: 8,798,802 (GRCm39)	E973G	possibly damaging	Het
Rdh1	A	G	10: 127,595,892 (GRCm39)	D29G	probably benign	Het
Rel	A	G	11: 23,692,957 (GRCm39)	S359P	probably benign	Het
Ryr3	T	A	2: 112,560,773 (GRCm39)	H2996L	probably benign	Het
Scarb1	C	T	5: 125,371,103 (GRCm39)	C323Y	probably damaging	Het
Scn5a	C	T	9: 119,327,193 (GRCm39)	R1309H	probably damaging	Het
Serpinb12	T	A	1: 106,881,469 (GRCm39)	V202E	probably damaging	Het
Shh	A	G	5: 28,663,298 (GRCm39)	L290P	possibly damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,215,714 (GRCm39)	G42R	probably benign	Het
Slc41a1	A	G	1: 131,758,561 (GRCm39)	N68D	possibly damaging	Het
Slc7a6os	A	G	8: 106,937,356 (GRCm39)	S64P	probably damaging	Het
Slco1a7	T	A	6: 141,673,448 (GRCm39)	L363F	probably benign	Het
Smc1b	A	G	15: 84,994,851 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,968,751 (GRCm39)	V349A	possibly damaging	Het
Sstr1	G	T	12: 58,260,313 (GRCm39)	G312V	probably damaging	Het
Tnfsf10	A	G	3: 27,389,808 (GRCm39)	I290V	probably benign	Het
Trio	A	G	15: 27,805,770 (GRCm39)	C1717R	possibly damaging	Het
Ttbk1	T	G	17: 46,757,494 (GRCm39)	S1047R	probably damaging	Het
Ttn	T	C	2: 76,746,877 (GRCm39)	D4724G	probably benign	Het
Uba1y	T	A	Y: 825,542 (GRCm39)	N301K	probably benign	Het
Unc5c	A	G	3: 141,533,310 (GRCm39)	T853A	probably benign	Het
Vmn2r45	T	A	7: 8,486,074 (GRCm39)	I405L	probably benign	Het
Wdr37	A	T	13: 8,855,969 (GRCm39)	M458K	probably damaging	Het
Zdhhc14	A	T	17: 5,762,729 (GRCm39)	Y211F	probably benign	Het
Zfp108	G	A	7: 23,960,758 (GRCm39)	V450I	probably benign	Het
Zfp212	A	T	6: 47,907,860 (GRCm39)	R280*	probably null	Het
Zfp940	A	T	7: 29,535,042 (GRCm39)	V108E	unknown	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
R1178:Cxcr2	UTSW	1	74,197,527 (GRCm39)	missense	probably benign	0.04
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
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

PCR Primer
(F):5'- TGTGCATAGCCATGTGGTTAC -3'
(R):5'- GCATTCAAGGCCTTGTCAATG -3'

Sequencing Primer
(F):5'- GCATAGCCATGTGGTTACTATCAG -3'
(R):5'- AAGGCCTTGTCAATGTCATCG -3'

Posted On

2019-12-20