Mutagenetix > Incidental Mutation

Incidental Mutation 'R8283:Ccr9'

638322

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

067706-MU

Accession Numbers

Essential gene?

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

Stock #

R8283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123596276-123612522 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123608696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 126 (Y126C)

Ref Sequence

ENSEMBL: ENSMUSP00000131782 (fasta)

Gene Model

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

AlphaFold

Q9WUT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000111454
AA Change: Y114C

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

SMART Domains

Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: Y114C

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: Y126C

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

SMART Domains

Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: Y126C

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: Y126C

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

SMART Domains

Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: Y126C

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: Y126C

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

SMART Domains

Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: Y126C

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: ENSMUST00000180093
AA Change: Y126C

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

SMART Domains

Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: Y126C

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,856,086 (GRCm39)	P65S	probably damaging	Het
Adcy3	A	T	12: 4,250,935 (GRCm39)	R565W	probably damaging	Het
Arl14	A	T	3: 69,129,868 (GRCm39)	N5I	probably benign	Het
Arl6ip6	A	G	2: 53,082,250 (GRCm39)	E39G	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Boc	A	T	16: 44,340,800 (GRCm39)	L50Q	noncoding transcript	Het
Calml3	A	G	13: 3,854,097 (GRCm39)	V36A	probably damaging	Het
Ccdc183	G	A	2: 25,502,160 (GRCm39)	A238V	probably damaging	Het
Ccndbp1	A	G	2: 120,839,065 (GRCm39)		probably benign	Het
Cdhr1	T	C	14: 36,804,737 (GRCm39)	N491S	probably benign	Het
Celsr2	C	T	3: 108,303,771 (GRCm39)	G2429D	probably damaging	Het
Cts6	T	C	13: 61,349,457 (GRCm39)	T84A	probably damaging	Het
Dcpp2	T	C	17: 24,118,384 (GRCm39)		probably null	Het
Drosha	A	G	15: 12,890,587 (GRCm39)	I945V	possibly damaging	Het
Dsg1b	A	G	18: 20,524,963 (GRCm39)	Q133R	probably benign	Het
Enpp1	T	A	10: 24,550,554 (GRCm39)	E174D	probably benign	Het
Esrrb	A	G	12: 86,468,732 (GRCm39)	H15R	probably benign	Het
Fbxl12	T	C	9: 20,550,017 (GRCm39)	T213A	probably benign	Het
Fnbp4	C	A	2: 90,577,115 (GRCm39)	T149K	probably damaging	Het
Foxj1	A	T	11: 116,224,893 (GRCm39)	F158Y	probably benign	Het
Frrs1	A	G	3: 116,671,952 (GRCm39)	T17A	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm45844	T	C	7: 7,244,901 (GRCm39)	Y11C	possibly damaging	Het
Hnrnpl	T	C	7: 28,513,697 (GRCm39)	V220A		Het
Iars2	T	A	1: 185,020,288 (GRCm39)	R949*	probably null	Het
Ice1	T	C	13: 70,752,549 (GRCm39)	E1179G	probably damaging	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mcmdc2	A	C	1: 10,004,263 (GRCm39)	K581T	possibly damaging	Het
Men1	A	T	19: 6,386,848 (GRCm39)	D186V	probably damaging	Het
Morc2b	T	G	17: 33,355,675 (GRCm39)	N699T	probably benign	Het
Mrgpra2b	A	G	7: 47,114,465 (GRCm39)	L89P	probably damaging	Het
Naip1	C	T	13: 100,563,695 (GRCm39)	G490E	probably damaging	Het
Ntm	T	C	9: 28,923,508 (GRCm39)	Y224C	probably damaging	Het
Nup88	A	T	11: 70,849,166 (GRCm39)	D262E	probably benign	Het
Or10ag52	T	C	2: 87,043,683 (GRCm39)	V149A	probably benign	Het
Or51l4	T	A	7: 103,404,019 (GRCm39)	I258L	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Oscp1	A	G	4: 125,980,393 (GRCm39)	M293V	probably benign	Het
Pcdhgc3	C	A	18: 37,940,694 (GRCm39)	A365D	probably damaging	Het
Pcyt2	A	T	11: 120,501,548 (GRCm39)	F388I	probably benign	Het
Pgm2l1	C	G	7: 99,902,460 (GRCm39)	A136G	probably benign	Het
Phf14	T	G	6: 11,987,636 (GRCm39)	D638E	probably benign	Het
Pnpla7	A	G	2: 24,940,935 (GRCm39)	K1096E	probably damaging	Het
Prkcb	T	A	7: 122,199,948 (GRCm39)	C586*	probably null	Het
Rnf187	T	A	11: 58,829,241 (GRCm39)	R124W	probably damaging	Het
Sema3a	T	C	5: 13,450,030 (GRCm39)	Y36H	probably damaging	Het
Setd7	T	G	3: 51,428,796 (GRCm39)	S345R	probably benign	Het
Sgms1	T	C	19: 32,137,035 (GRCm39)	D177G	probably damaging	Het
Snx19	T	C	9: 30,374,522 (GRCm39)	L927S	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sorl1	T	C	9: 41,942,294 (GRCm39)	D977G	probably damaging	Het
Sptan1	C	T	2: 29,870,212 (GRCm39)	R121W	probably damaging	Het
Srgap2	T	C	1: 131,291,771 (GRCm39)	D152G	probably damaging	Het
Suclg2	T	A	6: 95,474,700 (GRCm39)		probably null	Het
Tacc2	T	C	7: 130,227,034 (GRCm39)	S1240P	probably benign	Het
Tbc1d12	C	T	19: 38,825,353 (GRCm39)	A68V	probably benign	Het
Tex14	G	A	11: 87,365,241 (GRCm39)	D62N	probably damaging	Het
Thyn1	C	T	9: 26,918,155 (GRCm39)	T181I	probably benign	Het
Trio	T	A	15: 27,756,628 (GRCm39)	H2056L	possibly damaging	Het
Ubn2	T	A	6: 38,475,663 (GRCm39)	L1207Q	probably damaging	Het
Usp17lb	T	C	7: 104,490,013 (GRCm39)	S305G	probably damaging	Het
Vmn2r101	T	A	17: 19,832,253 (GRCm39)	Y750N	probably damaging	Het
Wif1	G	A	10: 120,931,952 (GRCm39)	S292N	probably benign	Het
Xpo6	T	G	7: 125,727,421 (GRCm39)	Q528H	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
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
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'- ACAGCCTGGTCATCCTTGTC -3'
(R):5'- TCCTTAGGGTAGACCATGGTAC -3'

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

Posted On

2020-07-28