Incidental Mutation 'R8477:Ackr1'
ID 657284
Institutional Source Beutler Lab
Gene Symbol Ackr1
Ensembl Gene ENSMUSG00000037872
Gene Name atypical chemokine receptor 1 (Duffy blood group)
Synonyms Darc, CD234, Dfy, FY, CCBP1, ESTM35
MMRRC Submission 067921-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8477 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 173159457-173161079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 173159755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 255 (G255R)
Ref Sequence ENSEMBL: ENSMUSP00000045134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005470] [ENSMUST00000038227] [ENSMUST00000111220] [ENSMUST00000194046]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000005470
SMART Domains Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 67 159 1.43e-8 SMART
IG 169 262 6.31e-1 SMART
IGc2 277 338 3.91e-6 SMART
low complexity region 351 359 N/A INTRINSIC
4.1m 383 401 9.24e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000038227
AA Change: G255R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045134
Gene: ENSMUSG00000037872
AA Change: G255R

DomainStartEndE-ValueType
SCOP:d1l9ha_ 26 317 1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111220
SMART Domains Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
IG 33 125 1.43e-8 SMART
IG 135 228 6.31e-1 SMART
IGc2 243 304 3.91e-6 SMART
low complexity region 317 325 N/A INTRINSIC
4.1m 349 367 9.24e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000194046
SMART Domains Protein: ENSMUSP00000141765
Gene: ENSMUSG00000037872

DomainStartEndE-ValueType
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (60/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are healthy, but erythrocytes lack CXC and CC chemokine-binding activity, such that when challenged with LPS result in increased inflammatory infiltrates in lung and liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,924,174 (GRCm39) S94L probably benign Het
Aldh1l2 G A 10: 83,337,785 (GRCm39) T560I probably damaging Het
Arhgef25 A T 10: 127,020,266 (GRCm39) F384I probably damaging Het
Bptf T A 11: 106,943,679 (GRCm39) Q2671L probably damaging Het
Ccdc159 A G 9: 21,844,223 (GRCm39) E95G probably damaging Het
Cenpf A T 1: 189,385,385 (GRCm39) H2298Q probably benign Het
Chn2 G T 6: 54,246,467 (GRCm39) probably null Het
Csnk1g1 T C 9: 65,909,555 (GRCm39) L224P probably damaging Het
Cyp2c54 T A 19: 40,058,708 (GRCm39) K241N probably benign Het
Cyp2c55 G T 19: 38,999,485 (GRCm39) V64L probably damaging Het
Dlgap1 A C 17: 70,823,967 (GRCm39) Q317H probably damaging Het
Dnaja3 A G 16: 4,505,212 (GRCm39) D108G probably null Het
Dpagt1 G T 9: 44,243,390 (GRCm39) probably null Het
Dzip1 T C 14: 119,138,958 (GRCm39) R424G possibly damaging Het
Ero1b A G 13: 12,616,672 (GRCm39) K367R probably benign Het
Evi2 T C 11: 79,406,891 (GRCm39) Y228C probably benign Het
Exosc10 A T 4: 148,649,847 (GRCm39) I426L possibly damaging Het
Gba2 C T 4: 43,569,944 (GRCm39) R423Q probably damaging Het
Gm19965 A C 1: 116,730,854 (GRCm39) probably benign Het
Gpr165 C A X: 95,757,623 (GRCm39) D7E probably benign Het
Gvin2 T C 7: 105,548,133 (GRCm39) K1640E possibly damaging Het
Hc A T 2: 34,879,182 (GRCm39) C1557S probably damaging Het
Hfm1 C T 5: 107,029,684 (GRCm39) S799N probably benign Het
Hibadh A T 6: 52,617,185 (GRCm39) W17R probably benign Het
Hivep1 A T 13: 42,337,696 (GRCm39) T2592S probably benign Het
Ighv8-5 G A 12: 115,031,200 (GRCm39) T113I probably benign Het
Il2rb A T 15: 78,370,006 (GRCm39) V211D probably damaging Het
Itgal A G 7: 126,900,105 (GRCm39) Y121C probably damaging Het
Kirrel1 T C 3: 86,992,138 (GRCm39) T597A possibly damaging Het
Lats1 A G 10: 7,581,279 (GRCm39) E688G probably damaging Het
Lbr C T 1: 181,644,539 (GRCm39) A589T possibly damaging Het
Limch1 G A 5: 67,131,908 (GRCm39) V133I probably benign Het
Mast2 C T 4: 116,164,407 (GRCm39) A1670T probably benign Het
Mtcl1 A T 17: 66,684,942 (GRCm39) L949Q probably benign Het
Nlrp4a T C 7: 26,159,219 (GRCm39) V833A probably benign Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or8g28 A T 9: 39,169,099 (GRCm39) Y290N probably damaging Het
Osgep C A 14: 51,155,334 (GRCm39) A75S probably damaging Het
Pank1 C A 19: 34,856,055 (GRCm39) R141L probably benign Het
Pcdhb20 T A 18: 37,638,307 (GRCm39) S278T probably benign Het
Pcdhgb8 C A 18: 37,896,365 (GRCm39) F478L probably benign Het
Peg10 C CTCT 6: 4,756,453 (GRCm39) probably benign Het
Polr2a G A 11: 69,626,312 (GRCm39) P1613S probably benign Het
Pramel55 A C 5: 95,949,567 (GRCm39) M105L probably benign Het
Prom2 A C 2: 127,381,124 (GRCm39) S251A probably benign Het
R3hdm2 A G 10: 127,320,029 (GRCm39) H546R probably damaging Het
Reck G T 4: 43,891,011 (GRCm39) V50L probably benign Het
Rerg T C 6: 137,033,184 (GRCm39) T164A probably benign Het
Rho T A 6: 115,912,346 (GRCm39) probably null Het
Ric1 A G 19: 29,575,183 (GRCm39) T959A probably damaging Het
Slc28a3 T A 13: 58,724,609 (GRCm39) N215I possibly damaging Het
Slc2a5 G A 4: 150,210,119 (GRCm39) V35I probably benign Het
Srpk2 A T 5: 23,718,986 (GRCm39) S610T probably benign Het
Tasor2 A G 13: 3,625,079 (GRCm39) F1624L probably benign Het
Tmem147 T A 7: 30,427,656 (GRCm39) M86L probably benign Het
Trhde A G 10: 114,636,622 (GRCm39) V195A probably benign Het
Trio T C 15: 27,774,038 (GRCm39) S112G possibly damaging Het
U2af2 T C 7: 5,078,693 (GRCm39) V424A probably benign Het
Vmn2r27 T C 6: 124,201,200 (GRCm39) I252M probably benign Het
Wasf2 A G 4: 132,912,412 (GRCm39) E88G unknown Het
Zfp37 A G 4: 62,110,240 (GRCm39) C275R probably damaging Het
Zfp532 A T 18: 65,757,137 (GRCm39) I357F probably damaging Het
Other mutations in Ackr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Ackr1 APN 1 173,160,396 (GRCm39) missense probably benign 0.23
R0479:Ackr1 UTSW 1 173,159,712 (GRCm39) missense probably benign 0.02
R1664:Ackr1 UTSW 1 173,160,433 (GRCm39) missense probably benign 0.36
R1713:Ackr1 UTSW 1 173,159,916 (GRCm39) missense probably benign 0.38
R2273:Ackr1 UTSW 1 173,160,052 (GRCm39) missense probably benign 0.17
R2274:Ackr1 UTSW 1 173,160,052 (GRCm39) missense probably benign 0.17
R2275:Ackr1 UTSW 1 173,160,052 (GRCm39) missense probably benign 0.17
R4469:Ackr1 UTSW 1 173,160,112 (GRCm39) splice site probably null
R5871:Ackr1 UTSW 1 173,159,640 (GRCm39) missense probably damaging 0.99
R6523:Ackr1 UTSW 1 173,160,120 (GRCm39) critical splice donor site probably null
R7062:Ackr1 UTSW 1 173,159,682 (GRCm39) missense possibly damaging 0.68
R7751:Ackr1 UTSW 1 173,159,779 (GRCm39) missense probably damaging 0.96
R8234:Ackr1 UTSW 1 173,159,582 (GRCm39) missense probably benign 0.12
R8697:Ackr1 UTSW 1 173,159,775 (GRCm39) missense probably damaging 0.96
R8738:Ackr1 UTSW 1 173,159,952 (GRCm39) missense probably damaging 0.97
R8851:Ackr1 UTSW 1 173,159,683 (GRCm39) missense probably benign 0.23
R9131:Ackr1 UTSW 1 173,160,075 (GRCm39) missense possibly damaging 0.79
R9746:Ackr1 UTSW 1 173,159,598 (GRCm39) missense probably benign 0.22
Predicted Primers PCR Primer
(F):5'- GGCATCCATTTGAGAAGCCTG -3'
(R):5'- ATCCTCCAGAGACATGGAAGC -3'

Sequencing Primer
(F):5'- GCATCCATTTGAGAAGCCTGTCTTG -3'
(R):5'- CATGGAAGCTTTGAAGTACATGC -3'
Posted On 2021-01-18