Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02339:Ccr6'

288982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccr6

Ensembl Gene

ENSMUSG00000040899

Gene Name

C-C motif chemokine receptor 6

Synonyms

Cmkbr6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02339

Quality Score

Status

Chromosome

Chromosomal Location

8454875-8475973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8475085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 97 (T97S)

Ref Sequence

ENSEMBL: ENSMUSP00000156324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097418] [ENSMUST00000164411] [ENSMUST00000166348] [ENSMUST00000167956] [ENSMUST00000177568] [ENSMUST00000180103] [ENSMUST00000231340] [ENSMUST00000231545]

AlphaFold

O54689

Predicted Effect

probably benign
Transcript: ENSMUST00000097418
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: T97S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	308	6.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164411
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: T97S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	308	6.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166348
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: T97S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	308	6.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167956
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: T97S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	308	6.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177568
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: T97S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	308	8.9e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180103
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: T97S

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	308	6.5e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231340

Predicted Effect

probably benign
Transcript: ENSMUST00000231545
AA Change: T97S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232412

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have decreased inflammatory responses, aberrant trafficking of lymphocytes and dendritic cells, and decreased expression of many inflammatory mediators. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	A	6: 23,093,965 (GRCm39)	V119F	probably damaging	Het
Abcg5	T	C	17: 84,981,032 (GRCm39)	I186V	possibly damaging	Het
B4gat1	G	A	19: 5,089,446 (GRCm39)	E148K	probably benign	Het
Cd209f	A	C	8: 4,154,483 (GRCm39)		probably null	Het
Chst1	T	A	2: 92,443,922 (GRCm39)	D131E	possibly damaging	Het
Dennd4a	C	T	9: 64,749,843 (GRCm39)	R145*	probably null	Het
Dnaaf9	A	G	2: 130,581,385 (GRCm39)	S546P	probably damaging	Het
Dnah6	A	G	6: 73,078,881 (GRCm39)	Y2361H	probably benign	Het
Dpp6	C	T	5: 27,857,228 (GRCm39)	T333I	probably damaging	Het
Glt8d1	C	A	14: 30,730,767 (GRCm39)	T91K	probably damaging	Het
Gm4952	G	A	19: 12,604,275 (GRCm39)	R229Q	probably damaging	Het
Gm5117	T	C	8: 32,228,254 (GRCm39)		noncoding transcript	Het
Gp5	T	C	16: 30,128,008 (GRCm39)	E222G	probably damaging	Het
Herc2	T	A	7: 55,771,470 (GRCm39)	D1077E	probably benign	Het
Hfe	T	C	13: 23,888,373 (GRCm39)	E171G	probably damaging	Het
Hsp90b1	A	G	10: 86,537,678 (GRCm39)	V209A	probably damaging	Het
Ktn1	A	T	14: 47,920,835 (GRCm39)		probably benign	Het
Med13	T	C	11: 86,179,765 (GRCm39)	I1394M	probably benign	Het
Meioc	T	G	11: 102,559,274 (GRCm39)	S65R	probably benign	Het
Myof	T	C	19: 37,960,661 (GRCm39)	Y460C	possibly damaging	Het
Or4f53	A	T	2: 111,087,588 (GRCm39)	T43S	probably benign	Het
Pms1	A	G	1: 53,314,324 (GRCm39)	Y74H	possibly damaging	Het
Ptprn2	A	C	12: 116,685,724 (GRCm39)	Q61P	probably damaging	Het
Rab29	A	G	1: 131,799,880 (GRCm39)	T152A	probably benign	Het
Rest	A	G	5: 77,423,135 (GRCm39)	H313R	probably damaging	Het
Slc9a5	T	C	8: 106,085,091 (GRCm39)	Y531H	probably damaging	Het
St3gal3	T	C	4: 117,815,759 (GRCm39)	T148A	probably damaging	Het
Stxbp5	C	T	10: 9,692,041 (GRCm39)	V368I	possibly damaging	Het
Taf1c	T	C	8: 120,331,019 (GRCm39)	D33G	probably damaging	Het
Trim38	G	A	13: 23,972,213 (GRCm39)	R178Q	probably damaging	Het
Uvssa	A	T	5: 33,572,193 (GRCm39)	K704N	probably damaging	Het
Vmn1r69	G	A	7: 10,314,645 (GRCm39)	Q29*	probably null	Het
Ypel2	T	C	11: 86,831,429 (GRCm39)	D119G	possibly damaging	Het

Other mutations in Ccr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Ccr6	APN	17	8,474,825 (GRCm39)	missense	probably benign	0.07
IGL02227:Ccr6	APN	17	8,475,284 (GRCm39)	missense	probably damaging	1.00
E0374:Ccr6	UTSW	17	8,475,284 (GRCm39)	missense	probably damaging	1.00
R0021:Ccr6	UTSW	17	8,475,598 (GRCm39)	missense	possibly damaging	0.46
R0976:Ccr6	UTSW	17	8,475,254 (GRCm39)	missense	probably damaging	1.00
R0980:Ccr6	UTSW	17	8,474,846 (GRCm39)	missense	probably benign	0.00
R1141:Ccr6	UTSW	17	8,474,834 (GRCm39)	missense	probably damaging	1.00
R1674:Ccr6	UTSW	17	8,475,049 (GRCm39)	missense	probably damaging	0.99
R2117:Ccr6	UTSW	17	8,474,914 (GRCm39)	missense	possibly damaging	0.75
R2176:Ccr6	UTSW	17	8,475,073 (GRCm39)	missense	probably damaging	0.99
R4736:Ccr6	UTSW	17	8,474,896 (GRCm39)	nonsense	probably null
R5050:Ccr6	UTSW	17	8,474,936 (GRCm39)	missense	probably damaging	1.00
R5786:Ccr6	UTSW	17	8,475,244 (GRCm39)	missense	probably damaging	0.99
R6138:Ccr6	UTSW	17	8,475,214 (GRCm39)	missense	probably damaging	1.00
R6856:Ccr6	UTSW	17	8,474,881 (GRCm39)	missense	probably benign	0.08
R6950:Ccr6	UTSW	17	8,475,898 (GRCm39)	makesense	probably null
R7102:Ccr6	UTSW	17	8,475,019 (GRCm39)	missense	probably benign	0.15
R7206:Ccr6	UTSW	17	8,475,781 (GRCm39)	missense	probably benign
R7223:Ccr6	UTSW	17	8,474,972 (GRCm39)	missense	probably damaging	1.00
R7323:Ccr6	UTSW	17	8,475,611 (GRCm39)	missense	possibly damaging	0.88
R7737:Ccr6	UTSW	17	8,463,926 (GRCm39)	start gained	probably benign
R7974:Ccr6	UTSW	17	8,475,056 (GRCm39)	missense	probably damaging	1.00
R8145:Ccr6	UTSW	17	8,474,945 (GRCm39)	missense	probably benign	0.16
R8699:Ccr6	UTSW	17	8,475,398 (GRCm39)	missense	probably benign	0.20
R8738:Ccr6	UTSW	17	8,475,394 (GRCm39)	missense	probably damaging	0.98
R8983:Ccr6	UTSW	17	8,474,878 (GRCm39)	missense	probably damaging	1.00
R9242:Ccr6	UTSW	17	8,474,965 (GRCm39)	missense	probably benign	0.01
R9689:Ccr6	UTSW	17	8,475,821 (GRCm39)	missense	possibly damaging	0.87

Posted On

2015-04-16