Incidental Mutation 'IGL03019:Ackr2'
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ID407978
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 #IGL03019
Quality Score
Status
Chromosome9
Chromosomal Location121898355-121911074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121909182 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 208 (Y208N)
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: Y208N

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: Y208N

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: Y208N

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T C 10: 127,091,562 probably benign Het
Arhgap21 A T 2: 20,861,063 I914N probably damaging Het
Brsk1 T C 7: 4,710,497 probably benign Het
Cachd1 A T 4: 100,952,085 T256S probably damaging Het
Ccdc171 G T 4: 83,795,308 G1195W probably damaging Het
Cept1 A G 3: 106,504,641 M339T probably damaging Het
Cir1 T C 2: 73,286,348 K223E unknown Het
Cited2 A T 10: 17,724,162 M73L probably benign Het
Drg2 T C 11: 60,456,595 Y37H probably damaging Het
Drosha T C 15: 12,846,099 L440P probably damaging Het
Dsc1 G A 18: 20,088,364 P685S probably benign Het
Epha1 T A 6: 42,362,752 D639V probably damaging Het
Fam212b G T 3: 105,716,371 M1I probably null Het
Izumo4 A G 10: 80,703,846 probably benign Het
Kcnmb2 A T 3: 32,198,150 R167W probably damaging Het
Lce1k A C 3: 92,806,779 C33G unknown Het
Map7 C T 10: 20,267,355 P417S unknown Het
Myo18b A G 5: 112,692,397 V2510A probably benign Het
Rubcn A T 16: 32,826,707 V787D probably damaging Het
Spen A T 4: 141,478,916 L800Q unknown Het
Zfp276 C A 8: 123,267,934 T580N probably damaging Het
Zfp354c G T 11: 50,817,194 P60T probably damaging Het
Other mutations in Ackr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Ackr2 APN 9 121909500 missense probably benign 0.02
IGL01744:Ackr2 APN 9 121909119 missense probably benign 0.06
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
R8090:Ackr2 UTSW 9 121908979 missense possibly damaging 0.53
Posted On2016-08-02