Mutagenetix > Incidental Mutations

Incidental Mutation 'R4672:Ccr9'

348547

Institutional Source

Beutler Lab

Gene Symbol

Ccr9

Ensembl Gene

ENSMUSG00000029530

Gene Name

chemokine (C-C motif) receptor 9

Synonyms

Cmkbr10, GPR-9-6

MMRRC Submission

041927-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123678439-123784330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123779687 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 145 (Y145H)

Ref Sequence

ENSEMBL: ENSMUSP00000137144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111454] [ENSMUST00000163559] [ENSMUST00000166236] [ENSMUST00000168910] [ENSMUST00000180093]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111454
AA Change: Y133H

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: Y133H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	47	320	1.2e-5	PFAM
Pfam:7tm_1	53	305	1.1e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163559
AA Change: Y145H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: Y145H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	59	332	5.9e-6	PFAM
Pfam:7tm_1	65	317	3.4e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166236
AA Change: Y145H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: Y145H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	59	332	5.9e-6	PFAM
Pfam:7tm_1	65	317	4.6e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168910
AA Change: Y145H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: Y145H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	59	332	5.9e-6	PFAM
Pfam:7tm_1	65	317	3.4e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172093

Predicted Effect

probably damaging
Transcript: ENSMUST00000180093
AA Change: Y145H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: Y145H

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	59	332	5.9e-6	PFAM
Pfam:7tm_1	65	317	3.4e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214413

Meta Mutation Damage Score

0.6182

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the beta chemokine receptor family. It is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are key regulators of the thymocytes migration and maturation in normal and inflammation conditions. The specific ligand of this receptor is CCL25. It has been found that this gene is differentially expressed by T lymphocytes of small intestine and colon, suggested a role in the thymocytes recruitment and development that may permit functional specialization of immune responses in different segment of the gastrointestinal tract. This gene is mapped to the chemokine receptor gene cluster region. Two alternatively spliced transcript variants have been described. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice have altered trafficing of lymphocytes to the intestine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,889,990	*330W	probably null	Het
Abca8a	G	A	11: 110,071,876	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,936,448	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,577,904	E104*	probably null	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
AI464131	T	A	4: 41,499,061	M190L	probably benign	Het
Alppl2	T	C	1: 87,089,465		probably benign	Het
Aplnr	A	G	2: 85,137,180	Y183C	probably damaging	Het
Atm	G	A	9: 53,522,201	R250W	probably damaging	Het
B4galt7	T	C	13: 55,609,319	L275P	probably damaging	Het
C87414	T	A	5: 93,636,323	R230S	probably damaging	Het
Ccdc178	G	A	18: 22,150,444	Q10*	probably null	Het
Cd209f	C	T	8: 4,103,685	G188D	probably damaging	Het
Cep70	T	A	9: 99,254,312	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,805,374	E294*	probably null	Het
Crisp1	T	A	17: 40,294,513		probably null	Het
Disp1	T	C	1: 183,098,651		probably null	Het
Dlg2	A	T	7: 92,286,535	M624L	probably damaging	Het
Elf2	A	G	3: 51,256,434	V558A	probably damaging	Het
Eno2	T	C	6: 124,766,146	D209G	probably damaging	Het
Fam187b	G	A	7: 30,977,543	R159H	probably damaging	Het
Fh1	G	A	1: 175,604,051	A423V	probably benign	Het
Frg1	C	T	8: 41,400,809	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841	N36K	probably benign	Het
Gcn1l1	A	G	5: 115,606,520	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,765,753	I81T	probably damaging	Het
Gjb6	C	T	14: 57,124,778	V9I	probably benign	Het
Gkap1	T	C	13: 58,263,956	S68G	possibly damaging	Het
Gm8765	T	C	13: 50,703,172	Y949H	probably benign	Het
Gpatch8	A	T	11: 102,478,958	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,320,930	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,341,983	G362*	probably null	Het
Igfn1	T	A	1: 135,965,369	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,570,956	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,730		probably null	Het
Insr	C	T	8: 3,167,501		probably null	Het
Kdm3b	T	C	18: 34,808,577	S374P	probably benign	Het
Kif14	A	C	1: 136,521,278	Q1472P	probably benign	Het
Kif14	G	T	1: 136,521,279	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,834,031	E202G	probably damaging	Het
Knstrn	G	T	2: 118,834,032	E202D	possibly damaging	Het
Krt12	A	G	11: 99,418,683		probably benign	Het
Lgi3	A	T	14: 70,534,457	I195F	possibly damaging	Het
Lima1	T	C	15: 99,843,709	N29D	probably damaging	Het
Liph	T	C	16: 21,984,056	I88V	probably benign	Het
Lrrk1	A	G	7: 66,279,372	S86P	probably benign	Het
Lsamp	A	G	16: 41,955,334	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,350,784	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 70,784,797		probably null	Het
Megf6	T	A	4: 154,249,452	N212K	probably damaging	Het
Met	A	C	6: 17,571,804	D1374A	probably benign	Het
Mrc2	A	G	11: 105,343,097	T902A	probably benign	Het
Mroh3	T	A	1: 136,190,975	T535S	probably benign	Het
Muc1	G	T	3: 89,232,077	V595L	probably damaging	Het
Myh2	T	A	11: 67,188,477	L957Q	probably damaging	Het
Ncl	A	T	1: 86,356,602	D257E	probably benign	Het
Nipbl	T	A	15: 8,302,984	D2263V	probably damaging	Het
Olfr1290	A	T	2: 111,489,557	N200K	possibly damaging	Het
Olfr727	A	G	14: 50,127,257	N227D	probably benign	Het
Olfr855	A	G	9: 19,585,430	K298E	possibly damaging	Het
Optc	C	A	1: 133,897,817	V324L	possibly damaging	Het
Osbpl9	A	G	4: 109,064,609	I604T	possibly damaging	Het
Otog	C	A	7: 46,289,786	A2080D	probably damaging	Het
Parp6	G	C	9: 59,640,110	R460P	probably damaging	Het
Phactr4	G	T	4: 132,370,706	P417Q	probably damaging	Het
Pigt	T	C	2: 164,497,578		probably benign	Het
Plekha5	A	G	6: 140,524,929	I99V	probably damaging	Het
Plxna3	T	G	X: 74,338,948		probably null	Het
Ppp2r1b	G	A	9: 50,867,719	M362I	probably damaging	Het
Rad51	A	G	2: 119,123,846	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449	H633Q	probably benign	Het
Rasal2	A	G	1: 157,243,661	F41S	probably benign	Het
Reep3	T	A	10: 67,021,850	H154L	probably benign	Het
Rp1l1	T	G	14: 64,031,270	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,654,287	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,543,618	M330K	probably damaging	Het
Scand1	A	G	2: 156,311,930		probably null	Het
Setd6	A	G	8: 95,718,012	H111R	probably null	Het
Slc27a3	T	C	3: 90,387,646	N368S	possibly damaging	Het
Slc38a2	T	C	15: 96,698,637	T32A	probably benign	Het
Smg7	A	G	1: 152,845,413	S683P	probably damaging	Het
Smyd2	A	T	1: 189,909,904	L62M	probably damaging	Het
Sox5	T	C	6: 143,833,349	Y687C	probably damaging	Het
Spaca6	T	A	17: 17,836,743	C53*	probably null	Het
Spire2	T	C	8: 123,358,111	V230A	probably benign	Het
Sptbn2	G	T	19: 4,732,496	V487L	probably benign	Het
Stk3	T	A	15: 35,099,457	I110L	probably benign	Het
Stox2	T	A	8: 47,192,106	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,651,336	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,503,738	D152E	probably benign	Het
Tpr	G	A	1: 150,423,567	A1173T	probably benign	Het
Trrap	T	C	5: 144,785,480	L271P	probably damaging	Het
Ttn	G	T	2: 76,827,075		probably benign	Het
U2surp	A	G	9: 95,493,145	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,410,716	S1128L	probably damaging	Het
Ucma	G	A	2: 4,976,654		probably null	Het
Urb1	A	T	16: 90,772,634	D1401E	probably benign	Het
Usp54	A	T	14: 20,581,529		probably benign	Het
Vmn1r31	A	G	6: 58,472,071	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,561,568	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,418,155	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,452,151	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,796,605	T209K	probably benign	Het
Zfp955b	T	A	17: 33,305,259		probably benign	Het

Other mutations in Ccr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ccr9	APN	9	123780044	missense	probably benign	0.00
IGL00983:Ccr9	APN	9	123779286	missense	probably benign
IGL02466:Ccr9	APN	9	123779846	missense	probably damaging	1.00
IGL03151:Ccr9	APN	9	123774573	utr 5 prime	probably benign
IGL03302:Ccr9	APN	9	123779536	missense	probably damaging	1.00
hamlet	UTSW	9	123779439	missense	probably damaging	1.00
Laertes	UTSW	9	123779846	missense	probably damaging	1.00
Ophelia	UTSW	9	123779469	missense	probably damaging	1.00
R0310:Ccr9	UTSW	9	123774552	utr 5 prime	probably benign
R0393:Ccr9	UTSW	9	123779970	missense	probably benign	0.18
R0421:Ccr9	UTSW	9	123779606	missense	probably benign
R2069:Ccr9	UTSW	9	123779364	missense	probably benign	0.05
R3980:Ccr9	UTSW	9	123779376	missense	probably benign	0.14
R4645:Ccr9	UTSW	9	123779593	missense	probably benign	0.00
R4920:Ccr9	UTSW	9	123779439	missense	probably damaging	1.00
R5661:Ccr9	UTSW	9	123780099	missense	probably benign	0.04
R5964:Ccr9	UTSW	9	123779434	missense	probably benign	0.12
R7037:Ccr9	UTSW	9	123779971	missense	possibly damaging	0.52
R7500:Ccr9	UTSW	9	123779469	missense	probably damaging	1.00
R7620:Ccr9	UTSW	9	123779846	missense	probably damaging	1.00
R7670:Ccr9	UTSW	9	123779306	missense	probably damaging	0.98
R7762:Ccr9	UTSW	9	123779957	missense	probably benign	0.08
R8154:Ccr9	UTSW	9	123779831	missense	probably benign	0.00
R8283:Ccr9	UTSW	9	123779631	missense	probably damaging	1.00
X0026:Ccr9	UTSW	9	123779501	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCCTGGTCATCCTTGTC -3'
(R):5'- ATCCTTAGGGTAGACCATGGTAC -3'

Sequencing Primer
(F):5'- CCTTGTCTACTGGTATTGCACAAGAG -3'
(R):5'- ACCCAGATGGTAATGCAG -3'

Posted On

2015-10-08