Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Cxcr2'

166855

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

039574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74193153-74200405 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74198217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 237 (L237P)

Ref Sequence

ENSEMBL: ENSMUSP00000102512 (fasta)

Gene Model

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

AlphaFold

P35343

Predicted Effect

probably damaging
Transcript: ENSMUST00000027372
AA Change: L237P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027372
Gene: ENSMUSG00000026180
AA Change: L237P

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 damaging
Transcript: ENSMUST00000106899
AA Change: L237P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102512
Gene: ENSMUSG00000026180
AA Change: L237P

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

0.9671

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Aoc1l1	T	C	6: 48,952,398 (GRCm39)	F108L	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,443,994 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,920,605 (GRCm39)	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nab2	C	G	10: 127,500,916 (GRCm39)	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or4c15b	T	C	2: 89,113,401 (GRCm39)	I46M	probably benign	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,564,767 (GRCm39)	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	probably damaging	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
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

PCR Primer
(F):5'- CTACTAGCCTGCATCAGCATGGAC -3'
(R):5'- GAGGAAGCCAAGAATCTCCGTAGC -3'

Sequencing Primer
(F):5'- TTGTACATGCCACAAGTACACTG -3'
(R):5'- AGAATCTCCGTAGCATTCAAGG -3'

Posted On

2014-04-13