Incidental Mutation 'IGL02492:Ccrl2'
ID295682
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccrl2
Ensembl Gene ENSMUSG00000043953
Gene Namechemokine (C-C motif) receptor-like 2
SynonymsCCR11, Cmkbr1l2, L-CCR
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02492
Quality Score
Status
Chromosome9
Chromosomal Location111054486-111057519 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111055803 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 209 (I209T)
Ref Sequence ENSEMBL: ENSMUSP00000143116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111888] [ENSMUST00000195968] [ENSMUST00000199839]
Predicted Effect probably benign
Transcript: ENSMUST00000111888
AA Change: I209T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107519
Gene: ENSMUSG00000043953
AA Change: I209T

DomainStartEndE-ValueType
Pfam:7tm_1 54 304 6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195968
SMART Domains Protein: ENSMUSP00000143105
Gene: ENSMUSG00000043953

DomainStartEndE-ValueType
Pfam:7tm_1 54 130 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197851
Predicted Effect probably benign
Transcript: ENSMUST00000199839
AA Change: I209T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143116
Gene: ENSMUSG00000043953
AA Change: I209T

DomainStartEndE-ValueType
Pfam:7tm_1 54 304 4.2e-31 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any significant abnormalities compared to controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,048,113 E1320G probably benign Het
Atm A G 9: 53,455,859 L2482P probably damaging Het
Bcl11b T C 12: 107,915,686 Y718C probably damaging Het
Cd200r2 A G 16: 44,909,540 K149R probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col18a1 A G 10: 77,072,021 probably benign Het
Cops5 T A 1: 10,027,152 T291S probably benign Het
Csmd1 C A 8: 16,002,597 V2176F probably benign Het
Ctse C A 1: 131,668,234 S221R probably damaging Het
Cxcl3 A G 5: 90,786,340 probably null Het
Cyp51 C T 5: 4,104,304 V2I probably benign Het
Dennd5a A G 7: 109,933,637 F285L probably benign Het
Dst T G 1: 34,152,193 probably benign Het
Frzb A T 2: 80,424,591 probably benign Het
Gm5070 A T 3: 95,411,043 noncoding transcript Het
Gm9637 A G 14: 19,402,182 noncoding transcript Het
Grip1 A G 10: 119,930,040 probably benign Het
Itga4 C T 2: 79,255,657 probably benign Het
Ltbp2 A T 12: 84,809,665 I675N probably damaging Het
Olfr733 T G 14: 50,298,603 K235N probably damaging Het
Pcdhb20 G T 18: 37,506,400 V660L probably benign Het
Prex2 T G 1: 11,123,845 L484R possibly damaging Het
Prkg1 A T 19: 30,724,202 V305D probably damaging Het
Rab44 A G 17: 29,146,049 probably benign Het
Smpd4 C T 16: 17,639,351 A391V probably damaging Het
Smyd4 T C 11: 75,403,426 L711P probably benign Het
Spag16 T G 1: 69,887,529 M261R probably benign Het
Steap1 A G 5: 5,740,561 V129A possibly damaging Het
Tbcd A T 11: 121,497,134 I364L probably benign Het
Trmt13 C T 3: 116,582,543 D400N possibly damaging Het
Vps13a A G 19: 16,647,637 S2753P probably damaging Het
Xirp2 T G 2: 67,516,167 S2917R probably damaging Het
Zfp983 G A 17: 21,657,612 probably null Het
Other mutations in Ccrl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02382:Ccrl2 APN 9 111055879 missense probably benign 0.22
octomom UTSW 9 111055987 splice site probably null
IGL03134:Ccrl2 UTSW 9 111055657 missense probably damaging 1.00
R0321:Ccrl2 UTSW 9 111056211 missense probably damaging 0.97
R0924:Ccrl2 UTSW 9 111055968 missense probably benign 0.39
R0967:Ccrl2 UTSW 9 111055686 missense probably benign 0.02
R2033:Ccrl2 UTSW 9 111055870 missense possibly damaging 0.95
R3720:Ccrl2 UTSW 9 111056364 missense probably benign 0.01
R3721:Ccrl2 UTSW 9 111056364 missense probably benign 0.01
R4244:Ccrl2 UTSW 9 111055354 missense probably benign 0.33
R5634:Ccrl2 UTSW 9 111055987 splice site probably null
R7027:Ccrl2 UTSW 9 111055885 missense probably benign 0.11
R7060:Ccrl2 UTSW 9 111055614 missense probably damaging 1.00
Posted On2015-04-16