Incidental Mutation 'R1295:Ackr2'
ID158072
Institutional Source Beutler Lab
Gene Symbol Ackr2
Ensembl Gene ENSMUSG00000044534
Gene Nameatypical chemokine receptor 2
SynonymsCcbp2, chemokine decoy receptor D6, D6
MMRRC Submission 039361-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1295 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location121898355-121911074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121908717 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 53 (S53G)
Ref Sequence ENSEMBL: ENSMUSP00000150219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000214340] [ENSMUST00000215664] [ENSMUST00000216326]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050327
AA Change: S53G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: S53G

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_1 62 311 1e-40 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214340
AA Change: S53G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000215664
Predicted Effect possibly damaging
Transcript: ENSMUST00000216326
AA Change: S53G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.1312 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.1%
  • 20x: 82.0%
Validation Efficiency 98% (81/83)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T A 15: 74,550,039 L886Q probably damaging Het
Adprhl1 G A 8: 13,248,624 T102M probably damaging Het
Akap6 A C 12: 52,887,029 K435Q probably damaging Het
Aldh7a1 T C 18: 56,546,950 probably null Het
Amfr T C 8: 93,974,804 R507G probably benign Het
Ap1m1 T A 8: 72,251,875 probably null Het
Arhgap29 A G 3: 121,992,395 H275R probably benign Het
Arhgef17 C A 7: 100,881,269 E428* probably null Het
Atm A T 9: 53,456,530 V2431E probably damaging Het
Atn1 G T 6: 124,747,787 P161Q unknown Het
Atp13a2 T C 4: 140,993,802 S99P probably damaging Het
Ccar1 C A 10: 62,783,882 probably null Het
Cdk18 T C 1: 132,119,960 probably benign Het
Cep85 A G 4: 134,167,400 W32R probably damaging Het
Col5a3 A G 9: 20,808,418 F215S unknown Het
Decr1 T C 4: 15,919,207 N312S possibly damaging Het
Diaph3 A T 14: 87,007,399 W178R probably damaging Het
Dync2h1 A G 9: 7,075,752 probably benign Het
Ehd3 C A 17: 73,828,186 D352E probably damaging Het
Enpp6 T G 8: 47,065,500 I221S probably benign Het
Fam186a T C 15: 99,939,789 probably benign Het
Gm5435 G T 12: 82,495,784 noncoding transcript Het
Gm6990 T A 19: 56,755,334 noncoding transcript Het
Gpr22 A C 12: 31,709,514 I203S probably benign Het
Gpr61 A G 3: 108,150,481 V288A possibly damaging Het
Grik3 G A 4: 125,704,564 probably benign Het
Gstcd T C 3: 133,005,628 N431D probably damaging Het
Haao T A 17: 83,838,838 Q69L probably benign Het
Hist1h1b T C 13: 21,779,999 S186G probably benign Het
Ift140 G T 17: 25,088,933 probably null Het
Ikbke A G 1: 131,270,226 V381A probably benign Het
Ing1 A C 8: 11,561,501 I38L probably benign Het
Ing1 T A 8: 11,561,502 I38N probably damaging Het
Itga4 A G 2: 79,322,689 M907V possibly damaging Het
Kcnk12 C T 17: 87,746,373 G287D probably damaging Het
Kmt2e A C 5: 23,502,404 H1655P probably damaging Het
Mbtd1 A G 11: 93,910,359 Y122C probably damaging Het
Mslnl T C 17: 25,743,240 L204P probably damaging Het
Muc6 T C 7: 141,651,879 E112G probably benign Het
Nav3 T A 10: 109,692,102 D2240V probably damaging Het
Ndufaf3 T C 9: 108,566,693 T9A probably damaging Het
Numb C A 12: 83,796,161 probably benign Het
Prodh2 T C 7: 30,494,089 V79A probably damaging Het
Psmb2 A G 4: 126,687,032 Y73C probably damaging Het
Rmnd5a G A 6: 71,398,455 L80F probably benign Het
Rnf19a G T 15: 36,244,101 Y604* probably null Het
Ros1 T A 10: 52,087,932 E1744V possibly damaging Het
Rpusd2 T C 2: 119,036,927 F219L probably benign Het
Sall2 T C 14: 52,313,725 N671S probably damaging Het
Sele T A 1: 164,050,810 S239R probably damaging Het
Serpina3b T C 12: 104,130,879 F140L probably damaging Het
Stxbp1 A T 2: 32,794,636 S594T probably benign Het
Sufu G A 19: 46,454,720 probably benign Het
Tbx2 A G 11: 85,834,766 E181G probably damaging Het
Thumpd2 A G 17: 81,055,888 V50A probably damaging Het
Tmem56 A G 3: 121,207,291 V231A probably benign Het
Ttn C A 2: 76,743,245 R17441L probably damaging Het
Usp34 A G 11: 23,384,477 Y1157C probably damaging Het
Vmn1r9 T C 6: 57,071,537 V199A probably damaging Het
Vmn2r6 A G 3: 64,538,273 F677S probably damaging Het
Vmn2r84 C T 10: 130,389,139 A501T probably benign Het
Wapl C T 14: 34,724,769 P605S probably damaging Het
Zfp598 A G 17: 24,679,649 N474S probably benign Het
Zfyve26 A G 12: 79,274,920 L975P probably damaging Het
Zp3r C T 1: 130,591,444 G255D 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
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
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
Predicted Primers PCR Primer
(F):5'- AGGACAGGCTCGTGTCTCAGTTTC -3'
(R):5'- TCCAGGCTCATGCAGGTGATGAAG -3'

Sequencing Primer
(F):5'- tgatgcttctgcttctgcc -3'
(R):5'- AGAGTGCTTATCACCTTGCACAG -3'
Posted On2014-02-18