Incidental Mutation 'IGL02382:Ccrl2'
ID291411
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 #IGL02382
Quality Score
Status
Chromosome9
Chromosomal Location111054486-111057519 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111055879 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 184 (K184E)
Ref Sequence ENSEMBL: ENSMUSP00000143116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111888] [ENSMUST00000195968] [ENSMUST00000199839]
Predicted Effect probably benign
Transcript: ENSMUST00000111888
AA Change: K184E

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107519
Gene: ENSMUSG00000043953
AA Change: K184E

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: K184E

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143116
Gene: ENSMUSG00000043953
AA Change: K184E

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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,459,749 probably null Het
Aoc2 T C 11: 101,326,672 L527P probably damaging Het
Arhgef15 C A 11: 68,954,030 R247L probably damaging Het
Armcx2 T C X: 134,805,667 T406A probably benign Het
Armcx5 T C X: 135,746,828 F551S probably damaging Het
Cenpe A G 3: 135,247,386 I1534V probably benign Het
Cflar T A 1: 58,752,681 I381K probably benign Het
Crb1 T A 1: 139,237,614 N924I probably damaging Het
Crebbp A G 16: 4,108,070 V729A probably damaging Het
Dab2 T A 15: 6,436,987 V615D possibly damaging Het
Edrf1 T C 7: 133,650,615 probably benign Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Gm14406 C A 2: 177,569,195 probably benign Het
Kptn T A 7: 16,124,020 S258T probably benign Het
Mbnl1 G T 3: 60,625,142 E291* probably null Het
Mcm4 A T 16: 15,624,738 L843Q probably damaging Het
Mgrn1 A G 16: 4,922,618 N274D probably damaging Het
Olfr26 G A 9: 38,855,068 G2D probably benign Het
Olfr532 T A 7: 140,419,603 T57S possibly damaging Het
Phactr4 A T 4: 132,370,841 V335E probably damaging Het
Ptgr2 T C 12: 84,313,948 S331P probably damaging Het
Ranbp9 T C 13: 43,436,146 probably null Het
Setd5 A G 6: 113,143,640 T937A probably benign Het
Slc27a4 C T 2: 29,809,843 R265C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A G 8: 48,235,476 Y2359H probably damaging Het
Tnip3 T C 6: 65,614,795 probably null Het
Zfc3h1 C T 10: 115,416,876 Q1365* probably null Het
Other mutations in Ccrl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02492:Ccrl2 APN 9 111055803 missense probably benign 0.01
octomom UTSW 9 111055987 unclassified 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 unclassified 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