Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Ccr9'

226958

Institutional Source

Beutler Lab

Gene Symbol

Ccr9

Ensembl Gene

ENSMUSG00000029530

Gene Name

C-C motif chemokine receptor 9

Synonyms

GPR-9-6, Cmkbr10

MMRRC Submission

040074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123596276-123612522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123608429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 37 (F37S)

Ref Sequence

ENSEMBL: ENSMUSP00000137144 (fasta)

Gene Model

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

AlphaFold

Q9WUT7

Predicted Effect

probably benign
Transcript: ENSMUST00000111454
AA Change: F25S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: F25S

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 benign
Transcript: ENSMUST00000163559
AA Change: F37S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: F37S

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 benign
Transcript: ENSMUST00000166236
AA Change: F37S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: F37S

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 benign
Transcript: ENSMUST00000168910
AA Change: F37S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: F37S

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 benign
Transcript: ENSMUST00000180093
AA Change: F37S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: F37S

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,012,341 (GRCm39)	V86A	probably benign	Het
Abcc3	A	T	11: 94,255,243 (GRCm39)	I601N	probably damaging	Het
Abl2	T	A	1: 156,448,397 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,835,895 (GRCm39)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,601 (GRCm39)	G247D	probably damaging	Het
Arid2	C	T	15: 96,260,471 (GRCm39)	L407F	probably damaging	Het
Atp13a1	T	C	8: 70,252,423 (GRCm39)	F606L	probably benign	Het
Avl9	T	A	6: 56,713,420 (GRCm39)		probably benign	Het
B3glct	C	T	5: 149,632,845 (GRCm39)	A65V	probably damaging	Het
Bcorl1	T	C	X: 47,490,794 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,187,496 (GRCm39)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,228,075 (GRCm39)	M263T	probably benign	Het
Brd8	T	C	18: 34,747,532 (GRCm39)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,848,041 (GRCm39)	D1052G	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 96,283,924 (GRCm39)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,896,938 (GRCm39)		probably null	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,477,797 (GRCm39)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,372,684 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,652,453 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,962,556 (GRCm39)	F771S	probably damaging	Het
Chil4	G	A	3: 106,126,771 (GRCm39)	L4F	probably benign	Het
Cilp	G	A	9: 65,185,372 (GRCm39)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Coq8b	A	G	7: 26,956,802 (GRCm39)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,783,412 (GRCm39)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,534 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,566 (GRCm39)	V156A	probably damaging	Het
Duox1	A	T	2: 122,163,543 (GRCm39)	T792S	probably benign	Het
Duox2	T	C	2: 122,117,589 (GRCm39)	D915G	probably benign	Het
Efcab5	A	T	11: 77,063,147 (GRCm39)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,923,959 (GRCm39)	D139N	probably benign	Het
Erg	A	G	16: 95,161,937 (GRCm39)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,690,811 (GRCm39)	S650R	probably damaging	Het
Fbp2	T	A	13: 63,001,875 (GRCm39)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,588,716 (GRCm39)	S496A	probably damaging	Het
Gab3	C	A	X: 74,043,701 (GRCm39)	R475L	probably damaging	Het
Gsap	T	C	5: 21,431,837 (GRCm39)		probably benign	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm39)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Insc	G	T	7: 114,403,828 (GRCm39)		probably null	Het
Jph2	A	G	2: 163,181,605 (GRCm39)	S520P	possibly damaging	Het
Kidins220	T	A	12: 25,037,005 (GRCm39)		probably benign	Het
Krtap29-1	A	G	11: 99,869,438 (GRCm39)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,840,507 (GRCm39)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,840,853 (GRCm39)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,392,768 (GRCm39)		probably benign	Het
Mboat2	T	C	12: 25,001,442 (GRCm39)	V281A	probably benign	Het
Mdga2	G	A	12: 66,615,691 (GRCm39)	R570*	probably null	Het
Mlxipl	A	G	5: 135,135,859 (GRCm39)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,355,734 (GRCm39)	I679M	probably benign	Het
Myh4	T	C	11: 67,137,192 (GRCm39)		probably benign	Het
Nfib	A	C	4: 82,416,852 (GRCm39)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,325,907 (GRCm39)	Y227*	probably null	Het
Nrde2	A	G	12: 100,108,491 (GRCm39)	S367P	probably damaging	Het
Nup93	C	A	8: 94,970,367 (GRCm39)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or10a2	A	T	7: 106,673,826 (GRCm39)	K264*	probably null	Het
Or11h4	T	A	14: 50,974,033 (GRCm39)	E195D	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k77	A	G	2: 111,199,440 (GRCm39)	I154M	probably benign	Het
Or6b9	A	T	7: 106,555,494 (GRCm39)	Y216*	probably null	Het
Or9r7	A	G	10: 129,962,074 (GRCm39)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,122,007 (GRCm39)	A319S	probably null	Het
P2ry10	A	G	X: 106,146,859 (GRCm39)	S265G	probably benign	Het
Peak1	A	T	9: 56,166,043 (GRCm39)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,705,432 (GRCm39)	Q168L	probably benign	Het
Plaat5	T	C	19: 7,590,003 (GRCm39)	S10P	possibly damaging	Het
Plec	A	G	15: 76,073,126 (GRCm39)	M604T	probably benign	Het
Pmfbp1	A	T	8: 110,258,735 (GRCm39)	N680I	possibly damaging	Het
Pnma8b	T	C	7: 16,679,714 (GRCm39)	W233R	probably damaging	Het
Pxn	A	G	5: 115,683,726 (GRCm39)	N186S	probably benign	Het
Rsad1	A	C	11: 94,439,951 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,046,229 (GRCm39)	I112T	probably benign	Het
S1pr2	A	T	9: 20,878,790 (GRCm39)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,638,276 (GRCm39)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 65,698,235 (GRCm39)	V242D	probably damaging	Het
Sp100	A	G	1: 85,608,863 (GRCm39)		probably null	Het
Spryd3	A	C	15: 102,026,616 (GRCm39)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,999,171 (GRCm39)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,131,266 (GRCm39)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,829 (GRCm39)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,751,842 (GRCm39)	D1154E	unknown	Het
Trap1	A	G	16: 3,886,200 (GRCm39)	S86P	probably benign	Het
Trim32	T	A	4: 65,533,013 (GRCm39)	C523*	probably null	Het
Ttc38	G	T	15: 85,722,989 (GRCm39)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,678,570 (GRCm39)	L131Q	probably damaging	Het
Ttn	T	C	2: 76,557,192 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubash3b	G	A	9: 40,954,869 (GRCm39)	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,859,397 (GRCm39)	N367S	probably damaging	Het
Ubr4	T	A	4: 139,206,851 (GRCm39)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm39)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,201,442 (GRCm39)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,519 (GRCm39)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 41,949,425 (GRCm39)	D615G	probably benign	Het
Wdr24	T	A	17: 26,045,256 (GRCm39)	D330E	probably damaging	Het
Zbbx	A	T	3: 74,985,719 (GRCm39)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,676,529 (GRCm39)	Q757L	probably damaging	Het
Zpld2	T	G	4: 133,929,252 (GRCm39)	N351T	possibly damaging	Het

Other mutations in Ccr9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ccr9	APN	9	123,609,109 (GRCm39)	missense	probably benign	0.00
IGL00983:Ccr9	APN	9	123,608,351 (GRCm39)	missense	probably benign
IGL02466:Ccr9	APN	9	123,608,911 (GRCm39)	missense	probably damaging	1.00
IGL03151:Ccr9	APN	9	123,603,638 (GRCm39)	utr 5 prime	probably benign
IGL03302:Ccr9	APN	9	123,608,601 (GRCm39)	missense	probably damaging	1.00
hamlet	UTSW	9	123,608,504 (GRCm39)	missense	probably damaging	1.00
Laertes	UTSW	9	123,608,911 (GRCm39)	missense	probably damaging	1.00
Ophelia	UTSW	9	123,608,534 (GRCm39)	missense	probably damaging	1.00
R0310:Ccr9	UTSW	9	123,603,617 (GRCm39)	utr 5 prime	probably benign
R0393:Ccr9	UTSW	9	123,609,035 (GRCm39)	missense	probably benign	0.18
R0421:Ccr9	UTSW	9	123,608,671 (GRCm39)	missense	probably benign
R3980:Ccr9	UTSW	9	123,608,441 (GRCm39)	missense	probably benign	0.14
R4645:Ccr9	UTSW	9	123,608,658 (GRCm39)	missense	probably benign	0.00
R4672:Ccr9	UTSW	9	123,608,752 (GRCm39)	missense	probably damaging	0.96
R4920:Ccr9	UTSW	9	123,608,504 (GRCm39)	missense	probably damaging	1.00
R5661:Ccr9	UTSW	9	123,609,164 (GRCm39)	missense	probably benign	0.04
R5964:Ccr9	UTSW	9	123,608,499 (GRCm39)	missense	probably benign	0.12
R7037:Ccr9	UTSW	9	123,609,036 (GRCm39)	missense	possibly damaging	0.52
R7500:Ccr9	UTSW	9	123,608,534 (GRCm39)	missense	probably damaging	1.00
R7620:Ccr9	UTSW	9	123,608,911 (GRCm39)	missense	probably damaging	1.00
R7670:Ccr9	UTSW	9	123,608,371 (GRCm39)	missense	probably damaging	0.98
R7762:Ccr9	UTSW	9	123,609,022 (GRCm39)	missense	probably benign	0.08
R8154:Ccr9	UTSW	9	123,608,896 (GRCm39)	missense	probably benign	0.00
R8283:Ccr9	UTSW	9	123,608,696 (GRCm39)	missense	probably damaging	1.00
R8525:Ccr9	UTSW	9	123,608,732 (GRCm39)	missense	probably benign	0.31
R9046:Ccr9	UTSW	9	123,608,831 (GRCm39)	missense	probably benign
R9273:Ccr9	UTSW	9	123,609,085 (GRCm39)	missense	probably benign	0.07
R9462:Ccr9	UTSW	9	123,608,600 (GRCm39)	missense	probably damaging	1.00
X0026:Ccr9	UTSW	9	123,608,566 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACTTTGGGTCAGTTTATCC -3'
(R):5'- TTGACCAGCAGCAGCAATGG -3'

Sequencing Primer
(F):5'- GGTCAGTTTATCCTATTTACCATCAG -3'
(R):5'- CAGCAGCAATGGCCCAG -3'

Posted On

2014-09-17