Incidental Mutation 'IGL01744:Ackr2'
ID152968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ackr2
Ensembl Gene ENSMUSG00000044534
Gene Nameatypical chemokine receptor 2
SynonymsCcbp2, chemokine decoy receptor D6, D6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01744
Quality Score
Status
Chromosome9
Chromosomal Location121898355-121911074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121909119 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
Ref Sequence ENSEMBL: ENSMUSP00000148966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000214340] [ENSMUST00000215664] [ENSMUST00000216326]
Predicted Effect probably benign
Transcript: ENSMUST00000050327
AA Change: T187A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: T187A

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_1 62 311 1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214340
AA Change: T187A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000215664
Predicted Effect probably benign
Transcript: ENSMUST00000216326
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 beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased inflammatory responses but are viable and fertile without any other gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T C 7: 12,550,532 I102T possibly damaging Het
4933412E24Rik C A 15: 60,015,575 A339S possibly damaging Het
Adam28 A G 14: 68,607,507 V777A probably benign Het
Add3 T A 19: 53,239,430 D515E probably damaging Het
Aire C A 10: 78,036,723 E354* probably null Het
AW551984 T C 9: 39,591,272 K670R probably benign Het
Bahcc1 T C 11: 120,271,737 V287A probably benign Het
Brca1 T C 11: 101,524,176 N1044S possibly damaging Het
Bub1b T A 2: 118,636,749 I851N probably damaging Het
Ceacam11 A T 7: 17,973,398 I36F possibly damaging Het
Copa A G 1: 172,113,189 E714G probably benign Het
Cth A T 3: 157,924,935 N32K probably benign Het
Cyp2a5 T A 7: 26,841,009 M349K probably damaging Het
D130052B06Rik A G 11: 33,623,966 S188G unknown Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flt1 T C 5: 147,571,461 N1161S probably benign Het
Gm10696 T A 3: 94,176,237 K89M probably damaging Het
Hip1 T C 5: 135,545,063 probably benign Het
Mapk11 A G 15: 89,146,843 probably benign Het
Mtif2 A G 11: 29,544,417 probably benign Het
Myo1f C A 17: 33,583,680 probably benign Het
Nipsnap1 G A 11: 4,889,912 R211H probably damaging Het
Olfr599 A G 7: 103,338,228 H58R probably damaging Het
Olfr781 T C 10: 129,333,457 I192T probably benign Het
Pcdh1 A T 18: 38,203,249 I111N probably damaging Het
Piezo2 T A 18: 63,042,788 I1841F probably damaging Het
Pirb G T 7: 3,717,176 Y399* probably null Het
Ppp1r36 A T 12: 76,439,232 N388I possibly damaging Het
Prr16 A G 18: 51,302,989 D180G possibly damaging Het
Prss39 A G 1: 34,502,199 probably null Het
Trank1 T A 9: 111,349,363 V373D probably damaging Het
Ubn1 A G 16: 5,072,059 E186G probably damaging Het
Zmym2 T C 14: 56,946,572 V997A probably benign Het
Other mutations in Ackr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Ackr2 APN 9 121909500 missense probably benign 0.02
IGL03019:Ackr2 APN 9 121909182 missense probably benign 0.43
IGL03143:Ackr2 APN 9 121909267 missense probably damaging 1.00
IGL03398:Ackr2 APN 9 121908588 missense probably damaging 1.00
R0180:Ackr2 UTSW 9 121908916 missense probably benign 0.44
R0366:Ackr2 UTSW 9 121909360 missense probably damaging 1.00
R1295:Ackr2 UTSW 9 121908717 missense possibly damaging 0.94
R1596:Ackr2 UTSW 9 121909212 missense probably damaging 1.00
R1827:Ackr2 UTSW 9 121909515 missense probably benign 0.36
R2109:Ackr2 UTSW 9 121908960 missense probably damaging 0.98
R2125:Ackr2 UTSW 9 121908786 nonsense probably null
R2414:Ackr2 UTSW 9 121908974 missense probably damaging 1.00
R4161:Ackr2 UTSW 9 121909522 missense probably benign 0.05
R4524:Ackr2 UTSW 9 121909543 missense probably benign
R4732:Ackr2 UTSW 9 121909183 missense probably damaging 0.98
R4733:Ackr2 UTSW 9 121909183 missense probably damaging 0.98
R5809:Ackr2 UTSW 9 121909474 missense probably damaging 1.00
R7203:Ackr2 UTSW 9 121908967 missense probably damaging 1.00
R7210:Ackr2 UTSW 9 121908877 missense possibly damaging 0.64
R7267:Ackr2 UTSW 9 121908808 missense probably damaging 1.00
R7665:Ackr2 UTSW 9 121909308 missense probably benign
Posted On2014-02-04