Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00955:Cxcr1'

26702

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cxcr1

Ensembl Gene

ENSMUSG00000048480

Gene Name

chemokine (C-X-C motif) receptor 1

Synonyms

Il8ra

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

74191785-74194631 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74192220 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 214 (F214L)

Ref Sequence

ENSEMBL: ENSMUSP00000139555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053389] [ENSMUST00000190313]

Predicted Effect

probably benign
Transcript: ENSMUST00000053389
AA Change: F214L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000049714
Gene: ENSMUSG00000048480
AA Change: F214L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	61	310	3e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190313
AA Change: F214L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139555
Gene: ENSMUSG00000048480
AA Change: F214L

Domain	Start	End	E-Value	Type
Pfam:7tm_1	61	310	1.1e-55	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 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. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,311,242	Q167L	probably benign	Het
Ces3a	T	A	8: 105,050,570	V175E	probably damaging	Het
Cherp	C	T	8: 72,470,194	E140K	probably damaging	Het
Clpx	A	T	9: 65,324,270	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,129,264	L31P	probably damaging	Het
Cyp2c67	T	A	19: 39,643,385	T123S	possibly damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Dzank1	G	A	2: 144,490,174	T414I	probably benign	Het
Erich3	A	G	3: 154,748,519	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,535,920	D83E	possibly damaging	Het
Hars2	T	C	18: 36,789,357		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,324,966	D372G	probably damaging	Het
Kcnk2	A	T	1: 189,243,014	I264N	probably damaging	Het
Kctd4	A	G	14: 75,963,228	D213G	probably damaging	Het
Lhx9	T	C	1: 138,828,680	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,911,404		probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,994,989	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,922,219	L91*	probably null	Het
Mup11	C	T	4: 60,659,550	R175H	probably benign	Het
Nbea	T	C	3: 56,005,472	K965E	possibly damaging	Het
Olfr598	C	A	7: 103,329,321	H278Q	probably damaging	Het
Papss1	G	A	3: 131,599,949	E252K	probably benign	Het
Robo2	A	T	16: 74,015,972	L278Q	probably damaging	Het
Sned1	A	T	1: 93,274,403	I638F	probably damaging	Het
Spin1	T	C	13: 51,144,541		probably null	Het
Taar9	T	C	10: 24,109,531	T2A	probably benign	Het
Tbc1d8b	T	C	X: 139,725,880		probably null	Het

Other mutations in Cxcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Cxcr1	APN	1	74192275	missense	probably damaging	0.99
IGL01798:Cxcr1	APN	1	74192600	missense	possibly damaging	0.94
IGL03349:Cxcr1	APN	1	74192528	missense	possibly damaging	0.83
R0491:Cxcr1	UTSW	1	74192309	missense	possibly damaging	0.50
R0637:Cxcr1	UTSW	1	74192839	missense	probably benign
R1372:Cxcr1	UTSW	1	74192002	missense	probably benign	0.05
R1511:Cxcr1	UTSW	1	74192770	missense	probably benign
R4603:Cxcr1	UTSW	1	74192737	missense	probably benign	0.00
R5642:Cxcr1	UTSW	1	74191828	missense	probably damaging	0.98
R6046:Cxcr1	UTSW	1	74192281	missense	probably damaging	1.00
R7552:Cxcr1	UTSW	1	74192614	missense	probably benign	0.18
R7664:Cxcr1	UTSW	1	74192675	missense	probably damaging	1.00
Z1176:Cxcr1	UTSW	1	74192392	nonsense	probably null

Posted On

2013-04-17