Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Ccr6'

236908

Institutional Source

Beutler Lab

Gene Symbol

Ccr6

Ensembl Gene

ENSMUSG00000040899

Gene Name

chemokine (C-C motif) receptor 6

Synonyms

Cmkbr6

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8236043-8257141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8256241 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 93 (F93I)

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: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: F93I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164411
AA Change: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: F93I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166348
AA Change: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: F93I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167956
AA Change: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: F93I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177568
AA Change: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: F93I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000180103
AA Change: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: F93I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231340

Predicted Effect

probably damaging
Transcript: ENSMUST00000231545
AA Change: F93I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232412

Meta Mutation Damage Score

0.3331

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,259,367		probably benign	Het
Adam1a	T	A	5: 121,519,586	Y548F	probably benign	Het
Armc9	T	C	1: 86,199,892	L83P	probably damaging	Het
BC051665	A	T	13: 60,784,530		probably benign	Het
Casp3	A	G	8: 46,629,756	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,888,089	M109I	probably benign	Het
Clvs2	T	C	10: 33,595,815	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,013,946	V171A	probably benign	Het
Dennd5a	C	A	7: 109,905,120		probably null	Het
Dock2	T	A	11: 34,695,217	Y546F	probably benign	Het
Fat2	A	G	11: 55,267,575		probably null	Het
Focad	T	A	4: 88,279,244	Y625N	unknown	Het
Fyb	A	G	15: 6,579,954	K3E	probably damaging	Het
Gm14496	G	A	2: 181,991,337	D38N	probably benign	Het
Gm20403	T	C	12: 54,986,370	T54A	probably benign	Het
Gm9830	A	G	9: 44,464,259		noncoding transcript	Het
Hectd1	A	T	12: 51,745,494	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,738,272	L175S	probably benign	Het
Itgav	C	T	2: 83,803,255	R983C	probably damaging	Het
Kcna10	T	C	3: 107,194,716	V221A	probably damaging	Het
Kif13b	G	A	14: 64,669,671	V35I	probably benign	Het
Kif6	G	A	17: 49,755,230	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,632,393	T452A	probably benign	Het
Mllt1	A	G	17: 56,897,398	S382P	probably benign	Het
Myo15b	T	C	11: 115,866,572	W1083R	probably damaging	Het
Nell2	T	C	15: 95,435,157	I174V	probably damaging	Het
Noct	G	A	3: 51,249,696		probably null	Het
Nvl	A	T	1: 181,135,074		probably benign	Het
Ofcc1	T	C	13: 40,097,119	S574G	probably benign	Het
Olfr1248	A	T	2: 89,617,580	M204K	possibly damaging	Het
Olfr512	G	A	7: 108,714,132	V248I	probably damaging	Het
Olfr749	T	C	14: 50,736,224	M313V	probably benign	Het
Pip5k1a	A	T	3: 95,065,496	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,553,517	P785S	probably damaging	Het
Plcg2	A	G	8: 117,612,994	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,520,652	V337E	probably benign	Het
Prkg2	T	C	5: 98,966,509		probably benign	Het
Prl7a2	T	G	13: 27,659,106	Y238S	probably benign	Het
Psg28	T	A	7: 18,427,879	D233V	probably damaging	Het
Rad50	A	G	11: 53,698,209	C221R	probably benign	Het
Rgl3	A	G	9: 21,975,958		probably benign	Het
Rgsl1	T	A	1: 153,825,268		probably benign	Het
Ror1	C	A	4: 100,441,874	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,056,560	D360E	probably benign	Het
Ryr3	T	C	2: 112,666,335	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 117,662,877	F342I	possibly damaging	Het
Setd5	A	G	6: 113,151,153	R1337G	probably benign	Het
Siglecf	T	C	7: 43,351,716	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,262,560	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,364,162	M2280L	probably benign	Het
Syngr2	T	C	11: 117,812,580	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,641,409	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,609,308	E502G	probably damaging	Het
Tph1	T	A	7: 46,662,039	D88V	possibly damaging	Het
Tpr	A	G	1: 150,419,940	K979E	possibly damaging	Het
Usp47	A	G	7: 112,092,727	T799A	probably benign	Het
Utf1	A	G	7: 139,944,007	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,772,602	C242S	probably damaging	Het
Wrnip1	T	C	13: 32,820,240	I498T	probably damaging	Het
Ypel2	T	A	11: 86,971,873	H18L	probably benign	Het
Zan	T	G	5: 137,421,848	D2849A	unknown	Het
Zfp647	A	T	15: 76,911,660	F267I	probably damaging	Het
Zfp786	G	T	6: 47,820,971	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,820,694	A365S	probably benign	Het
Zswim5	T	C	4: 116,973,041	W538R	probably damaging	Het

Other mutations in Ccr6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Ccr6	APN	17	8255993	missense	probably benign	0.07
IGL02227:Ccr6	APN	17	8256452	missense	probably damaging	1.00
IGL02339:Ccr6	APN	17	8256253	missense	probably benign	0.01
E0374:Ccr6	UTSW	17	8256452	missense	probably damaging	1.00
R0021:Ccr6	UTSW	17	8256766	missense	possibly damaging	0.46
R0976:Ccr6	UTSW	17	8256422	missense	probably damaging	1.00
R0980:Ccr6	UTSW	17	8256014	missense	probably benign	0.00
R1141:Ccr6	UTSW	17	8256002	missense	probably damaging	1.00
R1674:Ccr6	UTSW	17	8256217	missense	probably damaging	0.99
R2117:Ccr6	UTSW	17	8256082	missense	possibly damaging	0.75
R4736:Ccr6	UTSW	17	8256064	nonsense	probably null
R5050:Ccr6	UTSW	17	8256104	missense	probably damaging	1.00
R5786:Ccr6	UTSW	17	8256412	missense	probably damaging	0.99
R6138:Ccr6	UTSW	17	8256382	missense	probably damaging	1.00
R6856:Ccr6	UTSW	17	8256049	missense	probably benign	0.08
R6950:Ccr6	UTSW	17	8257066	makesense	probably null
R7102:Ccr6	UTSW	17	8256187	missense	probably benign	0.15
R7206:Ccr6	UTSW	17	8256949	missense	probably benign
R7223:Ccr6	UTSW	17	8256140	missense	probably damaging	1.00
R7323:Ccr6	UTSW	17	8256779	missense	possibly damaging	0.88
R7737:Ccr6	UTSW	17	8245094	start gained	probably benign
R7974:Ccr6	UTSW	17	8256224	missense	probably damaging	1.00
R8145:Ccr6	UTSW	17	8256113	missense	probably benign	0.16
R8699:Ccr6	UTSW	17	8256566	missense	probably benign	0.20
R8738:Ccr6	UTSW	17	8256562	missense	probably damaging	0.98
R8983:Ccr6	UTSW	17	8256046	missense	probably damaging	1.00
R9242:Ccr6	UTSW	17	8256133	missense	probably benign	0.01
R9689:Ccr6	UTSW	17	8256989	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- ATGCTCCCTAGAAGAGGTCAG -3'
(R):5'- ACAGATGACCTTACTGTGCG -3'

Sequencing Primer
(F):5'- GAAACTTCACCAAGGTATTTGTGCC -3'
(R):5'- TCAGTGTTCTGGAGCGTACCC -3'

Posted On

2014-10-02