Mutagenetix > Incidental Mutation

Incidental Mutation 'R7037:Ccr9'

546777

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

045137-MU

Accession Numbers

Essential gene?

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

Stock #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123596276-123612522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123609036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 239 (H239Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137144 (fasta)

Gene Model

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

AlphaFold

Q9WUT7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111454
AA Change: H227Q

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: H227Q

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

possibly damaging
Transcript: ENSMUST00000163559
AA Change: H239Q

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: H239Q

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

possibly damaging
Transcript: ENSMUST00000166236
AA Change: H239Q

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: H239Q

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

possibly damaging
Transcript: ENSMUST00000168910
AA Change: H239Q

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: H239Q

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

possibly damaging
Transcript: ENSMUST00000180093
AA Change: H239Q

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: H239Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,266 (GRCm39)	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,740,712 (GRCm39)	V314D	probably damaging	Het
Arl14epl	T	G	18: 47,065,510 (GRCm39)	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,220,215 (GRCm39)	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	C	T	2: 59,764,014 (GRCm39)		probably null	Het
Bicral	T	C	17: 47,135,560 (GRCm39)	H550R	probably benign	Het
C1rl	A	G	6: 124,485,598 (GRCm39)	Y323C	probably damaging	Het
Cdh16	T	A	8: 105,344,267 (GRCm39)	R91*	probably null	Het
Coro1c	A	G	5: 113,983,457 (GRCm39)	F357S	possibly damaging	Het
Cpsf4	G	A	5: 145,112,939 (GRCm39)	R141Q	possibly damaging	Het
Cryzl2	G	A	1: 157,298,318 (GRCm39)	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,117 (GRCm39)	E247G	probably damaging	Het
Dbr1	T	A	9: 99,458,621 (GRCm39)		probably null	Het
Dclk1	T	C	3: 55,370,469 (GRCm39)	S23P	probably damaging	Het
Dpyd	A	T	3: 118,692,938 (GRCm39)	I361F	probably benign	Het
Elac2	A	G	11: 64,874,537 (GRCm39)	E218G	probably benign	Het
Eml4	T	A	17: 83,732,756 (GRCm39)	D136E	probably benign	Het
Foxred1	A	T	9: 35,118,844 (GRCm39)	S223T	probably benign	Het
Garin5b	G	T	7: 4,761,584 (GRCm39)		probably benign	Het
Gask1a	G	T	9: 121,794,592 (GRCm39)	V249L	possibly damaging	Het
Gm11595	A	G	11: 99,663,474 (GRCm39)	C69R	unknown	Het
Gna14	A	T	19: 16,511,128 (GRCm39)	H59L		Het
H2-Ab1	T	A	17: 34,486,963 (GRCm39)	I239N	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Itgb4	T	A	11: 115,896,391 (GRCm39)	Y1379*	probably null	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,764,504 (GRCm39)	D846E	probably benign	Het
Lyst	A	G	13: 13,791,251 (GRCm39)	H38R	probably damaging	Het
Mc3r	T	C	2: 172,091,554 (GRCm39)	F259L	probably damaging	Het
Med25	A	G	7: 44,532,206 (GRCm39)	Y384H	probably damaging	Het
Met	A	T	6: 17,547,127 (GRCm39)		probably benign	Het
Mmp16	T	C	4: 18,116,148 (GRCm39)	V584A	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,942 (GRCm39)	L203P	probably damaging	Het
Mus81	A	G	19: 5,536,108 (GRCm39)	L185P	probably damaging	Het
Naaa	A	G	5: 92,424,934 (GRCm39)	V75A	possibly damaging	Het
Obscn	T	A	11: 58,934,755 (GRCm39)	T5292S	probably damaging	Het
Obscn	T	C	11: 58,943,430 (GRCm39)	S4801G	probably damaging	Het
Or2ag19	T	C	7: 106,444,543 (GRCm39)	S242P	probably damaging	Het
Otof	T	C	5: 30,538,882 (GRCm39)	D1112G	probably benign	Het
Pals1	T	A	12: 78,843,973 (GRCm39)	I59N	probably damaging	Het
Pbx4	A	G	8: 70,317,525 (GRCm39)	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plce1	A	T	19: 38,690,461 (GRCm39)	D715V	probably damaging	Het
Pms1	T	C	1: 53,246,770 (GRCm39)	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,194,629 (GRCm39)	D350G	probably damaging	Het
Prex1	A	G	2: 166,429,100 (GRCm39)	V661A	probably benign	Het
Ptbp2	A	G	3: 119,545,557 (GRCm39)	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,727,971 (GRCm39)	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,147,185 (GRCm39)	R75K	probably null	Het
Ryr3	T	A	2: 112,779,475 (GRCm39)	R259*	probably null	Het
Scai	A	T	2: 39,080,633 (GRCm39)	S8T	probably benign	Het
Scn4a	C	A	11: 106,211,726 (GRCm39)	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,993 (GRCm39)	K1035R	probably damaging	Het
Siah3	A	G	14: 75,763,025 (GRCm39)	H92R	probably benign	Het
Smc4	G	A	3: 68,925,528 (GRCm39)	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,848,138 (GRCm39)	C1330Y	possibly damaging	Het
St18	C	A	1: 6,873,260 (GRCm39)	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,806,250 (GRCm39)	E480D	possibly damaging	Het
Tex14	A	T	11: 87,388,741 (GRCm39)	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,114,107 (GRCm39)		probably null	Het
Tmem241	G	T	18: 12,246,463 (GRCm39)	H62Q	probably benign	Het
Tmem54	T	A	4: 129,004,594 (GRCm39)		probably null	Het
Tomm34	A	G	2: 163,912,398 (GRCm39)	L39P	probably damaging	Het
Triml2	T	A	8: 43,646,573 (GRCm39)	V354D	probably damaging	Het
Usp19	T	C	9: 108,374,157 (GRCm39)	I738T	possibly damaging	Het
Utp25	A	C	1: 192,803,031 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,702,514 (GRCm39)		probably null	Het
Zfp1005	G	T	2: 150,108,376 (GRCm39)	V46F	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
R2069:Ccr9	UTSW	9	123,608,429 (GRCm39)	missense	probably benign	0.05
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
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'- CAGAAATCCTGTACAGTCAAGTCAG -3'
(R):5'- ACTGGGTTCAGACAACTGTGG -3'

Sequencing Primer
(F):5'- CCTGTACAGTCAAGTCAGTGGGG -3'
(R):5'- TGCAATAGTCTGAGTAACCTGG -3'

Posted On

2019-05-13