Incidental Mutation 'IGL00983:Ccr9'
ID28272
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: 0.097) question?
Stock #IGL00983
Quality Score
Status
Chromosome9
Chromosomal Location123678439-123784330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 123779286 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 11 (P11L)
Ref Sequence ENSEMBL: ENSMUSP00000137144 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111454] [ENSMUST00000163559] [ENSMUST00000166236] [ENSMUST00000168910] [ENSMUST00000180093]
Predicted Effect probably benign
Transcript: ENSMUST00000111454
SMART Domains Protein: ENSMUSP00000107081
Gene: ENSMUSG00000029530

DomainStartEndE-ValueType
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: P11L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131782
Gene: ENSMUSG00000029530
AA Change: P11L

DomainStartEndE-ValueType
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: P11L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127024
Gene: ENSMUSG00000029530
AA Change: P11L

DomainStartEndE-ValueType
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: P11L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126758
Gene: ENSMUSG00000029530
AA Change: P11L

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 benign
Transcript: ENSMUST00000180093
AA Change: P11L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137144
Gene: ENSMUSG00000029530
AA Change: P11L

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,880,612 Q307* probably null Het
Acss3 A T 10: 106,966,964 C473* probably null Het
Adgrg1 T A 8: 95,005,243 S178T probably damaging Het
Anxa7 C A 14: 20,458,681 L386F possibly damaging Het
Calcrl T C 2: 84,370,454 E82G probably benign Het
Cep164 C A 9: 45,775,256 V887L possibly damaging Het
Dctn6 A G 8: 34,092,593 L136P probably damaging Het
Dnase1 T C 16: 4,039,553 V238A possibly damaging Het
Fat1 A G 8: 45,033,390 Y3304C probably damaging Het
Fbxo31 A T 8: 121,554,330 V359D possibly damaging Het
Gpr182 A G 10: 127,750,788 I98T possibly damaging Het
Gspt1 C T 16: 11,230,997 probably benign Het
Itgam C A 7: 128,068,667 T70K probably damaging Het
Itpr2 A G 6: 146,310,981 probably benign Het
Kank3 T A 17: 33,821,817 M458K probably damaging Het
Kcnd2 A G 6: 21,714,154 K379E possibly damaging Het
Macf1 C T 4: 123,382,122 V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 L3397S probably damaging Het
Msh3 A T 13: 92,300,277 N508K probably damaging Het
Mttp C A 3: 138,115,129 probably benign Het
Nme5 G T 18: 34,567,128 Q155K probably benign Het
Olfr1341 A T 4: 118,709,922 N172Y probably damaging Het
Olfr458 A T 6: 42,460,095 I308N probably benign Het
Olfr548-ps1 T A 7: 102,542,386 I150N possibly damaging Het
Pfkp A T 13: 6,581,567 W151R probably damaging Het
Pkd1l1 T A 11: 8,844,585 T1859S probably benign Het
Pmvk T C 3: 89,467,583 W96R probably damaging Het
Prdx6b T A 2: 80,293,195 M116K probably damaging Het
Ptpro A C 6: 137,418,248 L876F probably benign Het
Sdcbp G T 4: 6,392,953 E197* probably null Het
Serpinb1c A T 13: 32,884,224 S188R possibly damaging Het
Sorcs1 A T 19: 50,176,128 D988E probably damaging Het
Tmbim1 C A 1: 74,295,263 G46V probably damaging Het
Ubl4b C T 3: 107,554,440 G168E unknown Het
Vmn2r91 T C 17: 18,105,558 F146S probably benign Het
Zdhhc20 T C 14: 57,839,156 N335D possibly damaging Het
Zzz3 T G 3: 152,455,810 probably benign Het
Other mutations in Ccr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ccr9 APN 9 123780044 missense probably benign 0.00
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
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
R7762:Ccr9 UTSW 9 123779957 missense probably benign 0.08
X0026:Ccr9 UTSW 9 123779501 missense probably damaging 1.00
Posted On2013-04-17