Incidental Mutation 'IGL02466:Ccr9'
ID294593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccr9
Ensembl Gene ENSMUSG00000029530
Gene Namechemokine (C-C motif) receptor 9
SynonymsCmkbr10, GPR-9-6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02466
Quality Score
Status
Chromosome9
Chromosomal Location123678439-123784330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 123779846 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 198 (C198S)
Ref Sequence ENSEMBL: ENSMUSP00000137144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111454] [ENSMUST00000163559] [ENSMUST00000166236] [ENSMUST00000168910] [ENSMUST00000180093]
Predicted Effect probably damaging
Transcript: ENSMUST00000111454
AA Change: C186S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530
AA Change: C186S

DomainStartEndE-ValueType
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: C198S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: C198S

DomainStartEndE-ValueType
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: C198S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: C198S

DomainStartEndE-ValueType
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: C198S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: C198S

DomainStartEndE-ValueType
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: C198S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: C198S

DomainStartEndE-ValueType
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
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730559C18Rik T C 1: 136,216,435 probably null Het
Abca13 T C 11: 9,297,527 F2425L probably benign Het
Adgre4 A T 17: 55,814,188 Y418F probably benign Het
Adra1a G T 14: 66,637,873 C99F probably damaging Het
Aox3 C A 1: 58,158,272 H592Q probably benign Het
Cacna1f A G X: 7,629,405 probably null Het
Cacna2d2 T A 9: 107,465,554 I100N probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col4a3 T A 1: 82,670,192 C475S unknown Het
Csnk2a2 T C 8: 95,477,231 D100G possibly damaging Het
Cstf2t G A 19: 31,083,877 G271E possibly damaging Het
Fbxw22 T C 9: 109,385,092 R219G probably damaging Het
Gif A T 19: 11,752,232 N185I probably damaging Het
Homez A G 14: 54,858,102 F50L probably damaging Het
Hspa4l C T 3: 40,753,225 Q81* probably null Het
Ifi202b T C 1: 173,972,309 D202G possibly damaging Het
Mansc1 T A 6: 134,610,851 D121V probably damaging Het
Olfr1197 T G 2: 88,729,395 D68A probably damaging Het
Olfr538 A G 7: 140,574,771 Y206C probably benign Het
Olfr572 T A 7: 102,928,516 V296E possibly damaging Het
P2rx1 A T 11: 73,009,584 probably null Het
Phactr4 A G 4: 132,377,172 probably benign Het
Pus10 C T 11: 23,725,574 T482I probably damaging Het
Scyl2 G T 10: 89,653,009 Y206* probably null Het
Sell G A 1: 164,069,063 probably null Het
Slfn10-ps C T 11: 83,030,264 noncoding transcript Het
Ssh2 T C 11: 77,416,407 probably benign Het
Tas2r117 A G 6: 132,803,000 M34V probably benign Het
Vmn2r103 A T 17: 19,773,369 T3S probably benign Het
Vmn2r73 A T 7: 85,872,876 I85K probably damaging Het
Vps13b T C 15: 35,770,741 V2110A possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 G A 7: 81,023,998 G237R probably damaging Het
Zkscan7 A G 9: 122,888,885 E115G probably damaging Het
Zranb3 G A 1: 128,016,092 T306M probably benign Het
Other mutations in Ccr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ccr9 APN 9 123780044 missense probably benign 0.00
IGL00983:Ccr9 APN 9 123779286 missense probably benign
IGL03151:Ccr9 APN 9 123774573 utr 5 prime probably benign
IGL03302:Ccr9 APN 9 123779536 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
X0026:Ccr9 UTSW 9 123779501 missense probably damaging 1.00
Posted On2015-04-16