Mutagenetix > Incidental Mutation

Incidental Mutation 'R1141:Ccr6'

102129

Institutional Source

Beutler Lab

Gene Symbol

Ccr6

Ensembl Gene

ENSMUSG00000040899

Gene Name

C-C motif chemokine receptor 6

Synonyms

Cmkbr6

MMRRC Submission

039214-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1141 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

8454875-8475973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8474834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 13 (Y13C)

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 damaging
Transcript: ENSMUST00000097418
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: Y13C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164411
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: Y13C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166348
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: Y13C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167956
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: Y13C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177568
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: Y13C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180103
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: Y13C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231340
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231545
AA Change: Y13C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232412

Coding Region Coverage

1x: 99.3%
3x: 98.0%
10x: 94.1%
20x: 84.2%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	A	6: 86,942,458 (GRCm39)		probably null	Het
Asap2	A	G	12: 21,235,111 (GRCm39)	N71S	probably damaging	Het
Brinp1	T	C	4: 68,711,215 (GRCm39)	H331R	probably benign	Het
Brinp2	C	A	1: 158,074,840 (GRCm39)	C427F	probably damaging	Het
Celf4	T	C	18: 25,637,961 (GRCm39)	D187G	probably damaging	Het
Clcn6	T	G	4: 148,098,356 (GRCm39)	T556P	probably damaging	Het
Dst	A	T	1: 34,227,777 (GRCm39)	Q1968L	possibly damaging	Het
Elavl4	G	A	4: 110,108,565 (GRCm39)	Q53*	probably null	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Gli2	T	C	1: 118,765,667 (GRCm39)	H828R	possibly damaging	Het
Gpr108	A	G	17: 57,544,219 (GRCm39)	V397A	probably damaging	Het
Lrba	T	C	3: 86,526,865 (GRCm39)	I2241T	probably damaging	Het
Map3k21	G	A	8: 126,668,471 (GRCm39)	V686M	probably benign	Het
Nfatc4	A	T	14: 56,070,088 (GRCm39)	E752V	probably damaging	Het
R3hdm1	G	A	1: 128,159,142 (GRCm39)	R939H	probably benign	Het
Rnf213	A	G	11: 119,326,809 (GRCm39)	T1599A	probably benign	Het
Sft2d1rt	G	A	11: 45,942,781 (GRCm39)	A114V	possibly damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Stx1b	T	C	7: 127,410,098 (GRCm39)		probably null	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trim24	C	T	6: 37,892,228 (GRCm39)	H254Y	probably damaging	Het
Ttbk2	A	G	2: 120,637,332 (GRCm39)	L42P	probably damaging	Het
Vmn2r53	G	A	7: 12,334,673 (GRCm39)	T329I	possibly damaging	Het
Zfp174	T	A	16: 3,667,321 (GRCm39)	I170N	probably benign	Het
Zfp455	T	A	13: 67,346,655 (GRCm39)	L22Q	probably 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
IGL02339:Ccr6	APN	17	8,475,085 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

Posted On

2014-01-15