Mutagenetix > Incidental Mutation

Incidental Mutation 'R5418:Ccr10'

427869

Institutional Source

Beutler Lab

Gene Symbol

Ccr10

Ensembl Gene

ENSMUSG00000044052

Gene Name

C-C motif chemokine receptor 10

Synonyms

GPR2, Cmkbr9, CCR10

MMRRC Submission

042986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5418 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

101063824-101066269 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101064904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 209 (V209M)

Ref Sequence

ENSEMBL: ENSMUSP00000062588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000062759] [ENSMUST00000103109] [ENSMUST00000123864] [ENSMUST00000129895] [ENSMUST00000164474]

AlphaFold

Q9JL21

Predicted Effect

probably benign
Transcript: ENSMUST00000043397

SMART Domains

Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	285	398	4.2e-21	PFAM
B41	400	664	2.91e-4	SMART
low complexity region	750	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062759
AA Change: V209M

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000062588
Gene: ENSMUSG00000044052
AA Change: V209M

Domain	Start	End	E-Value	Type
Pfam:7tm_1	58	310	4.8e-43	PFAM
low complexity region	313	329	N/A	INTRINSIC
low complexity region	336	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103109

SMART Domains

Protein: ENSMUSP00000099398
Gene: ENSMUSG00000017167

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
FA58C	25	169	7.49e-36	SMART
LamG	196	333	2.86e-32	SMART
LamG	382	516	3.49e-27	SMART
EGF	544	578	2.28e0	SMART
Blast:FBG	580	777	1e-133	BLAST
LamG	806	940	1.95e-25	SMART
EGF_like	961	997	6.03e1	SMART
low complexity region	1032	1044	N/A	INTRINSIC
low complexity region	1047	1058	N/A	INTRINSIC
low complexity region	1063	1078	N/A	INTRINSIC
LamG	1081	1219	2.59e-30	SMART
4.1m	1305	1323	7.85e-7	SMART
low complexity region	1333	1370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123864

SMART Domains

Protein: ENSMUSP00000120865
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
PH	95	200	1.9e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129895

SMART Domains

Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	281	399	2.7e-16	PFAM
B41	400	664	5.17e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138942

Predicted Effect

probably benign
Transcript: ENSMUST00000164474

SMART Domains

Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	23	40	N/A	INTRINSIC
PH	96	201	1.9e-5	SMART
low complexity region	241	251	N/A	INTRINSIC
Pfam:MyTH4	281	399	3.3e-16	PFAM
B41	400	661	6.14e-4	SMART
low complexity region	747	763	N/A	INTRINSIC

Meta Mutation Damage Score

0.1790

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for null mutation are viable and fertile, without any detectable neurological abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	G	2: 35,244,738 (GRCm39)	S205P	probably damaging	Het
Abcc1	T	C	16: 14,278,996 (GRCm39)	V1102A	probably benign	Het
Acad8	A	T	9: 26,896,853 (GRCm39)	M202K	probably damaging	Het
Acoxl	T	A	2: 127,719,722 (GRCm39)	M161K	probably benign	Het
Adamts4	T	A	1: 171,080,143 (GRCm39)	V35E	probably damaging	Het
Add2	A	G	6: 86,087,894 (GRCm39)	S614G	probably benign	Het
Adgrv1	T	A	13: 81,567,427 (GRCm39)	I5249L	probably benign	Het
Agps	A	G	2: 75,689,248 (GRCm39)	T252A	probably damaging	Het
Alms1-ps1	G	A	6: 85,732,584 (GRCm39)		noncoding transcript	Het
Ankrd24	T	A	10: 81,480,776 (GRCm39)		probably benign	Het
Bcl9l	A	G	9: 44,416,733 (GRCm39)	Q218R	possibly damaging	Het
Bin2	T	C	15: 100,547,027 (GRCm39)	Y232C	probably damaging	Het
Bptf	A	G	11: 107,002,120 (GRCm39)	Y331H	probably damaging	Het
Cflar	A	T	1: 58,791,810 (GRCm39)	D371V	possibly damaging	Het
Col1a2	A	G	6: 4,516,931 (GRCm39)		probably benign	Het
Crlf2	A	G	5: 109,704,899 (GRCm39)	V104A	probably benign	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dmxl2	A	G	9: 54,281,935 (GRCm39)		probably null	Het
Dnah17	C	A	11: 117,985,810 (GRCm39)	E1422D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Efcab11	A	G	12: 99,821,877 (GRCm39)	L80S	possibly damaging	Het
Emc8	G	A	8: 121,385,342 (GRCm39)	T130M	probably damaging	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Erc2	A	G	14: 27,688,467 (GRCm39)	M196V	probably benign	Het
Etnk2	T	C	1: 133,300,995 (GRCm39)	I254T	probably damaging	Het
Fam120b	C	T	17: 15,622,061 (GRCm39)	T13M	probably damaging	Het
Fam234b	A	G	6: 135,203,966 (GRCm39)	K423E	probably benign	Het
Fcgbp	G	A	7: 27,784,738 (GRCm39)	G266D	probably damaging	Het
Fndc4	A	T	5: 31,451,978 (GRCm39)	S146R	probably benign	Het
Frmd3	G	A	4: 74,079,935 (GRCm39)		probably null	Het
Glrx2	C	A	1: 143,615,446 (GRCm39)	S16R	possibly damaging	Het
Gm26526	T	G	7: 39,238,358 (GRCm39)		noncoding transcript	Het
Hc	C	T	2: 34,898,195 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,787,313 (GRCm39)	C1695R	probably damaging	Het
Hic1	A	G	11: 75,057,425 (GRCm39)		probably null	Het
Igkv4-92	A	T	6: 68,732,564 (GRCm39)	V5E	possibly damaging	Het
Irs1	G	A	1: 82,266,491 (GRCm39)	T575I	probably damaging	Het
Kcp	A	T	6: 29,504,283 (GRCm39)	Y143*	probably null	Het
Klb	A	G	5: 65,540,813 (GRCm39)	N969D	probably benign	Het
Klra6	T	A	6: 129,990,393 (GRCm39)	L239F	probably damaging	Het
Lhx6	A	G	2: 35,977,378 (GRCm39)		probably null	Het
Lrrc34	G	A	3: 30,696,923 (GRCm39)	P116S	possibly damaging	Het
Map3k9	T	A	12: 81,790,591 (GRCm39)	K321*	probably null	Het
Mapk14	T	C	17: 28,960,817 (GRCm39)	V196A	possibly damaging	Het
Matcap2	G	T	9: 22,343,066 (GRCm39)	R187L	probably damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mtmr12	T	C	15: 12,270,045 (GRCm39)	L711P	probably damaging	Het
Mylk	T	C	16: 34,732,600 (GRCm39)	S627P	probably benign	Het
Nbea	A	T	3: 55,553,410 (GRCm39)	Y2631N	possibly damaging	Het
Ncoa7	A	G	10: 30,524,035 (GRCm39)	V153A	probably damaging	Het
Or4a79	T	C	2: 89,552,343 (GRCm39)	I37M	probably benign	Het
Pax6	A	T	2: 105,521,910 (GRCm39)	D175V	probably benign	Het
Piezo1	A	G	8: 123,213,519 (GRCm39)	L1793P	probably damaging	Het
Pkp4	T	C	2: 59,140,506 (GRCm39)	V404A	probably benign	Het
Plxnb2	A	G	15: 89,050,694 (GRCm39)	Y421H	probably benign	Het
Prkdc	T	G	16: 15,612,961 (GRCm39)	V3173G	probably benign	Het
Prss40	A	T	1: 34,599,840 (GRCm39)	I49N	probably benign	Het
Prx	T	A	7: 27,216,699 (GRCm39)	V400E	probably damaging	Het
Rbm11	A	C	16: 75,393,423 (GRCm39)	T40P	probably damaging	Het
Resf1	T	C	6: 149,227,634 (GRCm39)	Y227H	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,569,820 (GRCm39)	Y70H	probably damaging	Het
Senp6	G	A	9: 80,029,151 (GRCm39)	E505K	possibly damaging	Het
Slc25a3	T	C	10: 90,955,398 (GRCm39)	I147M	probably benign	Het
Slc4a7	T	A	14: 14,760,280 (GRCm38)	S572T	probably benign	Het
Smarcal1	C	T	1: 72,638,068 (GRCm39)	P501S	probably benign	Het
Sox7	C	T	14: 64,185,396 (GRCm39)	T144M	probably benign	Het
Taar1	T	C	10: 23,797,214 (GRCm39)	F304S	possibly damaging	Het
Tcf3	A	G	10: 80,263,517 (GRCm39)	F46L	probably damaging	Het
Tmem184c	A	G	8: 78,324,449 (GRCm39)	V347A	probably damaging	Het
Tpcn2	C	T	7: 144,832,518 (GRCm39)	E113K	probably damaging	Het
Vmn1r232	T	A	17: 21,134,378 (GRCm39)	Y74F	possibly damaging	Het
Vmn2r102	C	T	17: 19,914,415 (GRCm39)	T660I	probably damaging	Het
Zdhhc3	A	G	9: 122,909,456 (GRCm39)	M234T	probably damaging	Het
Zfp960	T	A	17: 17,307,805 (GRCm39)	L173H	probably damaging	Het

Other mutations in Ccr10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Ccr10	APN	11	101,065,492 (GRCm39)	missense	probably benign	0.01
R1523:Ccr10	UTSW	11	101,064,501 (GRCm39)	missense	probably damaging	0.98
R1696:Ccr10	UTSW	11	101,065,210 (GRCm39)	missense	probably benign	0.25
R5275:Ccr10	UTSW	11	101,065,111 (GRCm39)	missense	possibly damaging	0.92
R5295:Ccr10	UTSW	11	101,065,111 (GRCm39)	missense	possibly damaging	0.92
R6219:Ccr10	UTSW	11	101,065,375 (GRCm39)	missense	possibly damaging	0.85
R7161:Ccr10	UTSW	11	101,065,104 (GRCm39)	missense	probably benign	0.02
R7674:Ccr10	UTSW	11	101,065,475 (GRCm39)	missense	probably benign
R8458:Ccr10	UTSW	11	101,064,982 (GRCm39)	missense	probably damaging	1.00
R9596:Ccr10	UTSW	11	101,065,018 (GRCm39)	missense	probably benign
Z1176:Ccr10	UTSW	11	101,065,166 (GRCm39)	frame shift	probably null
Z1176:Ccr10	UTSW	11	101,065,149 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTAGATCGGCTGTATCCAG -3'
(R):5'- TTCCTAGCCTGTATCAGCGC -3'

Sequencing Primer
(F):5'- TGTATCCAGCAGCAGGGC -3'
(R):5'- TATGTGGCCATCGCACGAG -3'

Posted On

2016-09-01