Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Ccr9'

597949

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123678439-123784330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123779957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 235 (T235S)

Ref Sequence

ENSEMBL: ENSMUSP00000131782 (fasta)

Gene Model

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

AlphaFold

Q9WUT7

Predicted Effect

probably benign
Transcript: ENSMUST00000111454
AA Change: T223S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: T223S

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: T235S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: T235S

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: T235S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: T235S

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: T235S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: T235S

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: ENSMUST00000180093
AA Change: T235S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: T235S

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% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443		probably null	Het
Acod1	T	G	14: 103,051,340	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338	S128P	probably benign	Het
Cat	T	C	2: 103,456,858	K476E	probably benign	Het
Cep55	T	G	19: 38,069,069		probably null	Het
Clec2e	A	G	6: 129,095,128	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381	N116K		Het
Dnaja4	A	G	9: 54,709,210	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181		probably benign	Het
Olfr933	G	A	9: 38,976,194	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928		probably null	Het
Shh	T	G	5: 28,466,666	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501		probably null	Het
Tbx2	A	G	11: 85,835,901	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306	T2468I	possibly damaging	Het
Tmeff2	A	T	1: 50,979,416	N186Y	probably benign	Het
Tmem132c	T	C	5: 127,554,696	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946		probably null	Het
Vwa3b	A	C	1: 37,124,045	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635	F1356I	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
R4672:Ccr9	UTSW	9	123779687	missense	probably damaging	0.96
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
R8154:Ccr9	UTSW	9	123779831	missense	probably benign	0.00
R8283:Ccr9	UTSW	9	123779631	missense	probably damaging	1.00
R8525:Ccr9	UTSW	9	123779667	missense	probably benign	0.31
R9046:Ccr9	UTSW	9	123779766	missense	probably benign
R9273:Ccr9	UTSW	9	123780020	missense	probably benign	0.07
R9462:Ccr9	UTSW	9	123779535	missense	probably damaging	1.00
X0026:Ccr9	UTSW	9	123779501	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCTGCATTACCATCTGG -3'
(R):5'- CTGGAAGCAGATGTCAATATTGGTG -3'

Sequencing Primer
(F):5'- CATCTGGGTGATGGCAGC -3'
(R):5'- TGTCAATATTGGTGGAAATAGTGCAG -3'

Posted On

2019-11-26