Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Ccr6'

668960

Institutional Source

Beutler Lab

Gene Symbol

Ccr6

Ensembl Gene

ENSMUSG00000040899

Gene Name

chemokine (C-C motif) receptor 6

Synonyms

Cmkbr6

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8236043-8257141 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8256566 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 201 (T201M)

Ref Sequence

ENSEMBL: ENSMUSP00000095029 (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: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095029
Gene: ENSMUSG00000040899
AA Change: T201M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164411
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131153
Gene: ENSMUSG00000040899
AA Change: T201M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166348
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128559
Gene: ENSMUSG00000040899
AA Change: T201M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167956
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128529
Gene: ENSMUSG00000040899
AA Change: T201M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177568
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137249
Gene: ENSMUSG00000040899
AA Change: T201M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180103
AA Change: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135945
Gene: ENSMUSG00000040899
AA Change: T201M

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: T201M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,931,057	K82E	probably benign	Het
4933430I17Rik	T	C	4: 62,532,278	W30R	probably damaging	Het
Abca3	A	G	17: 24,408,225	D1555G	probably benign	Het
Anapc1	T	C	2: 128,641,453	T1241A	probably damaging	Het
Ano5	G	A	7: 51,593,771	V881I	probably benign	Het
Appl1	G	A	14: 26,940,255	S490L	probably benign	Het
Asxl3	A	G	18: 22,434,607	T81A	probably benign	Het
Bclaf1	T	C	10: 20,333,438	S754P	possibly damaging	Het
Bicra	G	T	7: 15,989,188	Q135K	probably benign	Het
Cad	T	C	5: 31,076,261	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,341,116	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,565,114	I59T	probably damaging	Het
Cd5	A	G	19: 10,725,192	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,361	D1017E	probably damaging	Het
Cntnap4	A	T	8: 112,757,596	D427V	probably damaging	Het
Col4a4	T	A	1: 82,455,734	N1496I	unknown	Het
Crybg3	A	G	16: 59,554,928	Y274H	probably damaging	Het
Cubn	C	A	2: 13,383,959	S1479I	probably damaging	Het
Diras2	A	T	13: 52,508,107	C55S	probably damaging	Het
Dleu7	G	A	14: 62,292,830	R41C	probably benign	Het
Exo5	A	G	4: 120,921,996	I224T	probably damaging	Het
Fcho1	T	C	8: 71,709,633	I774V	possibly damaging	Het
Gclm	T	G	3: 122,266,323	S251A	possibly damaging	Het
Gm11639	A	G	11: 104,781,246	T1464A	probably benign	Het
Gm13889	T	C	2: 93,956,982	Q49R	unknown	Het
Gm35315	T	A	5: 110,080,526	H18L	probably benign	Het
Gm9949	G	A	18: 62,183,972	G65R	unknown	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gria4	C	A	9: 4,424,347	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351	Y838S	probably damaging	Het
Hrh3	A	G	2: 180,101,356	W160R	probably damaging	Het
Htr4	G	A	18: 62,437,692	A273T	probably damaging	Het
Lig3	G	T	11: 82,794,550	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,282,195	V1594E		Het
Map3k10	A	T	7: 27,668,355	V286D	probably damaging	Het
Map4k4	T	A	1: 39,976,750	V117E	unknown	Het
Mdga1	C	T	17: 29,842,374	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363	L248F	possibly damaging	Het
Ncaph	T	C	2: 127,121,176	D379G	possibly damaging	Het
Neb	A	G	2: 52,147,234	V7064A	probably benign	Het
Neb	G	A	2: 52,212,551	T4570M	probably benign	Het
Npy5r	G	T	8: 66,681,622	T173K	probably damaging	Het
Olfr1002	A	T	2: 85,647,986	C112S	possibly damaging	Het
Olfr1037	A	T	2: 86,085,174	I201N	probably damaging	Het
Olfr1442	A	G	19: 12,674,882	M226V	probably benign	Het
Olfr1447	A	T	19: 12,901,464	F105L	possibly damaging	Het
Olfr622	A	T	7: 103,639,615	I175N	probably damaging	Het
Oxsm	A	G	14: 16,242,631	I46T	possibly damaging	Het
Pcdha1	A	T	18: 36,931,023	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,742,922	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,496,587	S304C	probably damaging	Het
Pramef6	A	T	4: 143,897,192	N137K	probably benign	Het
Ptprd	A	T	4: 76,041,392	F279I	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rest	G	A	5: 77,281,542	G603R	probably benign	Het
Rgs17	A	T	10: 5,918,194	L9M	probably benign	Het
Rtp1	A	G	16: 23,431,383	Y166C	probably damaging	Het
Sec24b	C	A	3: 130,005,004	R572I	probably damaging	Het
Setd1a	G	T	7: 127,786,602	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,701,891	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Stat4	T	A	1: 52,071,937	M181K	probably benign	Het
Stk16	A	G	1: 75,212,038	E67G	probably benign	Het
Supv3l1	A	G	10: 62,432,455	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,783,535	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,582,294		probably benign	Het
Tpr	T	A	1: 150,418,021	I922N	probably damaging	Het
Uaca	G	T	9: 60,871,065	L911F	probably damaging	Het
Ubn1	A	T	16: 5,063,703	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,911,377	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,606,655	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,808,809	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,178,760	N15K	probably benign	Het
Wdr46	T	A	17: 33,948,852	I513N	probably damaging	Het
Wdr60	T	C	12: 116,207,701	T972A	probably benign	Het
Zfp788	A	G	7: 41,648,416	N159D	probably benign	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
R2176:Ccr6	UTSW	17	8256241	missense	probably damaging	0.99
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
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'- AGCATGGACCGGTACATTGC -3'
(R):5'- ACCATGTTGTGAGGGATCTGAC -3'

Sequencing Primer
(F):5'- GTACATTGCCATCGTCCAGG -3'
(R):5'- TTGTGAGGGATCTGACAAGCC -3'

Posted On

2021-04-30