Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Ccr8'

481135

Institutional Source

Beutler Lab

Gene Symbol

Ccr8

Ensembl Gene

ENSMUSG00000042262

Gene Name

chemokine (C-C motif) receptor 8

Synonyms

Cmkbr8

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5996 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120092114-120094906 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120094463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 215 (C215S)

Ref Sequence

ENSEMBL: ENSMUSP00000038473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048777]

AlphaFold

P56484

Predicted Effect

probably damaging
Transcript: ENSMUST00000048777
AA Change: C215S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038473
Gene: ENSMUSG00000042262
AA Change: C215S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	44	313	2.4e-8	PFAM
Pfam:7tm_1	50	298	3.3e-44	PFAM
low complexity region	338	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217495

Meta Mutation Damage Score

0.7887

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for either of two independently generated knock-out alleles show normal lung eosinophilia and Th2 cytokine responses in OVA-elicited asthma models. Mice homozygous for a third knock-out allele show a delay in onset of clinical signs of experimental autoimmune encephalomyelitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,518,928 (GRCm38)	M1T	probably null	Het
4932438A13Rik	T	C	3: 36,931,116 (GRCm38)	F865S	probably benign	Het
A2m	T	A	6: 121,659,394 (GRCm38)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,400,139 (GRCm38)	R108C	possibly damaging	Het
Acan	A	G	7: 79,111,320 (GRCm38)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,955,672 (GRCm38)		probably null	Het
Cd209b	T	C	8: 3,918,688 (GRCm38)	T314A	probably benign	Het
Cd244	T	G	1: 171,581,640 (GRCm38)		probably null	Het
Cdh23	T	C	10: 60,413,577 (GRCm38)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,809,879 (GRCm38)	V268A	probably damaging	Het
Clip4	T	C	17: 71,856,310 (GRCm38)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,328,071 (GRCm38)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,455,728 (GRCm38)	D1498G	unknown	Het
Coro6	T	C	11: 77,466,496 (GRCm38)	V177A	probably benign	Het
Crip3	T	C	17: 46,431,284 (GRCm38)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,158,460 (GRCm38)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 32,929,473 (GRCm38)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,435,311 (GRCm38)	Q415*	probably null	Het
Dennd5b	A	G	6: 149,068,095 (GRCm38)	F287L	probably benign	Het
Dlg4	G	A	11: 70,017,231 (GRCm38)	R6K	probably benign	Het
Edc4	A	G	8: 105,887,401 (GRCm38)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,779,630 (GRCm38)		probably null	Het
Flt4	A	T	11: 49,651,070 (GRCm38)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,159,824 (GRCm38)		probably benign	Het
Gm35060	G	T	18: 32,462,492 (GRCm38)		probably benign	Het
Gm4894	A	T	9: 49,278,670 (GRCm38)	I82L	unknown	Het
Gm7247	C	T	14: 51,364,348 (GRCm38)	S26F	probably benign	Het
Gpr176	A	C	2: 118,283,904 (GRCm38)		probably null	Het
Gtse1	T	C	15: 85,864,180 (GRCm38)	L262P	probably benign	Het
Il4ra	T	C	7: 125,567,221 (GRCm38)	W46R	probably damaging	Het
Itga11	A	G	9: 62,755,673 (GRCm38)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,434,830 (GRCm38)		probably null	Het
Kcnh7	G	A	2: 63,184,097 (GRCm38)		probably benign	Het
Ly9	T	A	1: 171,601,828 (GRCm38)	Q230L	probably damaging	Het
Map2	C	A	1: 66,414,884 (GRCm38)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,497,906 (GRCm38)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,905,245 (GRCm38)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,797,763 (GRCm38)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm38)	P192L	probably damaging	Het
Mrpl37	T	C	4: 107,066,507 (GRCm38)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,513,594 (GRCm38)	G121D	probably benign	Het
Nabp1	A	G	1: 51,471,385 (GRCm38)	S153P	probably benign	Het
Nsun3	A	T	16: 62,769,686 (GRCm38)	F222I	probably benign	Het
Olfr735	A	G	14: 50,345,512 (GRCm38)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,685,938 (GRCm38)	D180V	probably benign	Het
Pex6	C	A	17: 46,714,458 (GRCm38)		probably null	Het
Phrf1	C	A	7: 141,259,102 (GRCm38)		probably benign	Het
Ppp1r36	A	G	12: 76,439,162 (GRCm38)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 105,773,040 (GRCm38)	M519T	probably benign	Het
Rfx4	G	A	10: 84,840,017 (GRCm38)	W32*	probably null	Het
Ryr1	T	C	7: 29,024,241 (GRCm38)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,612,234 (GRCm38)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,209,236 (GRCm38)	D719G	probably benign	Het
Slfn9	A	G	11: 82,987,484 (GRCm38)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,384,674 (GRCm38)	E781G	probably benign	Het
Sspo	C	T	6: 48,494,176 (GRCm38)	P4686S	possibly damaging	Het
Stab1	G	T	14: 31,139,551 (GRCm38)	R2500S	probably benign	Het
Stox2	A	T	8: 47,203,147 (GRCm38)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,623,483 (GRCm38)	S633P	probably damaging	Het
Tm9sf4	T	C	2: 153,195,571 (GRCm38)		probably null	Het
Togaram2	T	A	17: 71,704,783 (GRCm38)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,747,114 (GRCm38)	S140P	possibly damaging	Het
Ttc29	A	T	8: 78,276,896 (GRCm38)	N247I	probably damaging	Het
Uso1	A	T	5: 92,192,730 (GRCm38)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,411,909 (GRCm38)		probably null	Het
Xirp2	T	A	2: 67,511,650 (GRCm38)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,310,458 (GRCm38)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,577,048 (GRCm38)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,593,858 (GRCm38)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,719,360 (GRCm38)	S175A	probably benign	Het

Other mutations in Ccr8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Ccr8	APN	9	120,094,625 (GRCm38)	missense	probably damaging	1.00
IGL02558:Ccr8	APN	9	120,094,658 (GRCm38)	missense	probably benign	0.01
IGL02966:Ccr8	APN	9	120,094,140 (GRCm38)	missense	probably damaging	0.96
IGL03135:Ccr8	APN	9	120,094,623 (GRCm38)	missense	possibly damaging	0.89
R0402:Ccr8	UTSW	9	120,094,910 (GRCm38)	splice site	probably null
R0739:Ccr8	UTSW	9	120,094,349 (GRCm38)	missense	probably damaging	1.00
R1069:Ccr8	UTSW	9	120,094,217 (GRCm38)	missense	probably benign	0.00
R4766:Ccr8	UTSW	9	120,094,464 (GRCm38)	missense	probably damaging	1.00
R4934:Ccr8	UTSW	9	120,094,749 (GRCm38)	missense	probably benign
R5116:Ccr8	UTSW	9	120,094,029 (GRCm38)	missense	probably benign	0.39
R5942:Ccr8	UTSW	9	120,094,706 (GRCm38)	missense	probably damaging	0.99
R5957:Ccr8	UTSW	9	120,093,827 (GRCm38)	missense	probably damaging	0.99
R7223:Ccr8	UTSW	9	120,094,617 (GRCm38)	missense	probably damaging	0.99
R8037:Ccr8	UTSW	9	120,094,370 (GRCm38)	missense	probably benign
R8332:Ccr8	UTSW	9	120,094,374 (GRCm38)	missense	probably damaging	1.00
R8962:Ccr8	UTSW	9	120,094,547 (GRCm38)	missense	possibly damaging	0.56
R9344:Ccr8	UTSW	9	120,094,067 (GRCm38)	missense	probably damaging	1.00
Z1177:Ccr8	UTSW	9	120,094,499 (GRCm38)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ATGCCATCAAGGTGAGGAC -3'
(R):5'- TGGCACATCCATCCAAGATG -3'

Sequencing Primer
(F):5'- AGCCCTGAGTCTGACAGTGTG -3'
(R):5'- ATCCATCCAAGATGTGCAGGTCG -3'

Posted On

2017-06-26