Incidental Mutation 'R6523:Ackr1'
ID 521447
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 044649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6523 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 173159457-173161079 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 173160120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141765 (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 benign
Transcript: ENSMUST00000038227
AA Change: V133A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045134
Gene: ENSMUSG00000037872
AA Change: V133A

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 noncoding transcript
Transcript: ENSMUST00000136540
Predicted Effect probably null
Transcript: ENSMUST00000194046
SMART Domains Protein: ENSMUSP00000141765
Gene: ENSMUSG00000037872

DomainStartEndE-ValueType
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194298
Meta Mutation Damage Score 0.4583 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,472,071 (GRCm39) S246T possibly damaging Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Arid4a A G 12: 71,114,115 (GRCm39) probably null Het
AU040320 G A 4: 126,762,553 (GRCm39) probably null Het
B430306N03Rik A G 17: 48,626,193 (GRCm39) T129A possibly damaging Het
Blvrb C A 7: 27,165,142 (GRCm39) probably null Het
Ccdc175 T C 12: 72,191,565 (GRCm39) N337S probably benign Het
Ccdc28b A C 4: 129,514,780 (GRCm39) F110V probably damaging Het
Cd200 A G 16: 45,220,633 (GRCm39) Y16H probably benign Het
Cfh T G 1: 140,029,445 (GRCm39) E950A possibly damaging Het
Clec3a A T 8: 115,152,345 (GRCm39) Y117F probably damaging Het
CN725425 A G 15: 91,115,784 (GRCm39) S9G probably benign Het
Coasy T A 11: 100,976,944 (GRCm39) W535R probably damaging Het
Cox4i1 T A 8: 121,399,480 (GRCm39) S30R probably benign Het
Csnk1a1 G A 18: 61,688,829 (GRCm39) S3N probably benign Het
Dcst2 C G 3: 89,280,808 (GRCm39) L669V probably benign Het
Dnah14 A G 1: 181,471,186 (GRCm39) I1346V probably benign Het
Fbxw24 G A 9: 109,434,048 (GRCm39) R421* probably null Het
Fstl5 G A 3: 76,443,641 (GRCm39) V329I probably benign Het
Gli3 T C 13: 15,888,235 (GRCm39) probably null Het
Gna11 A T 10: 81,380,688 (GRCm39) I25N probably damaging Het
Greb1 C T 12: 16,734,374 (GRCm39) V1539I possibly damaging Het
Hipk3 T A 2: 104,269,753 (GRCm39) T479S possibly damaging Het
Hspa1b A G 17: 35,176,167 (GRCm39) I606T probably benign Het
Idnk T A 13: 58,311,457 (GRCm39) F141L probably damaging Het
Ifit3 A G 19: 34,565,555 (GRCm39) N367S probably benign Het
Kcnn1 A T 8: 71,299,169 (GRCm39) D448E possibly damaging Het
Krt14 T C 11: 100,095,923 (GRCm39) T212A possibly damaging Het
Ldlr G A 9: 21,648,549 (GRCm39) C285Y probably damaging Het
Mark3 G A 12: 111,593,669 (GRCm39) V234I probably damaging Het
Meikin T A 11: 54,289,327 (GRCm39) Y233* probably null Het
Mtcl2 G A 2: 156,902,263 (GRCm39) Q251* probably null Het
Muc20 T C 16: 32,613,820 (GRCm39) D519G possibly damaging Het
Nalcn T A 14: 123,555,255 (GRCm39) H876L probably benign Het
Ncaph A T 2: 126,947,809 (GRCm39) I698K probably damaging Het
Nipal1 A T 5: 72,824,951 (GRCm39) I215F probably damaging Het
Nrde2 A T 12: 100,100,664 (GRCm39) D607E possibly damaging Het
Nt5dc2 T C 14: 30,857,662 (GRCm39) F217S probably damaging Het
Ntsr2 T A 12: 16,706,697 (GRCm39) S156T probably benign Het
Or13c9 A T 4: 52,935,500 (GRCm39) I261N probably damaging Het
Or5b110-ps1 A C 19: 13,259,728 (GRCm39) D231E probably benign Het
Or5p4 A C 7: 107,680,762 (GRCm39) T254P probably benign Het
Pfas A T 11: 68,881,283 (GRCm39) I1028K probably benign Het
Pnpla5 C A 15: 83,999,912 (GRCm39) R329L possibly damaging Het
Pramel30 T C 4: 144,058,218 (GRCm39) V275A probably benign Het
Rhot2 A G 17: 26,058,394 (GRCm39) V393A possibly damaging Het
Rigi T A 4: 40,205,947 (GRCm39) T882S probably benign Het
Rnase9 T A 14: 51,276,684 (GRCm39) Y98F possibly damaging Het
Sacs C A 14: 61,440,410 (GRCm39) L819I probably damaging Het
Sall3 C T 18: 81,016,403 (GRCm39) M508I possibly damaging Het
Scube3 G A 17: 28,381,362 (GRCm39) C301Y probably damaging Het
Sgo2b G T 8: 64,380,538 (GRCm39) H765N probably benign Het
Sh3gl1 A T 17: 56,324,617 (GRCm39) Y344N possibly damaging Het
Slc15a2 A G 16: 36,572,683 (GRCm39) V635A probably benign Het
Slc1a4 T A 11: 20,282,114 (GRCm39) Y40F probably damaging Het
Slc4a10 A T 2: 62,117,305 (GRCm39) K755* probably null Het
Slco1a5 C T 6: 142,212,121 (GRCm39) G38R probably damaging Het
Snx25 T A 8: 46,508,892 (GRCm39) D564V probably damaging Het
Spon1 T A 7: 113,486,018 (GRCm39) D189E probably benign Het
Sptbn5 T C 2: 119,896,095 (GRCm39) probably null Het
Ssbp2 A G 13: 91,841,170 (GRCm39) I317V probably benign Het
Stil AAGATTTCCAG A 4: 114,889,911 (GRCm39) probably null Het
Strn3 A T 12: 51,689,881 (GRCm39) probably null Het
Tcaf2 A T 6: 42,619,953 (GRCm39) F25I probably benign Het
Themis C T 10: 28,657,894 (GRCm39) T154I possibly damaging Het
Ttn T C 2: 76,626,390 (GRCm39) R13176G probably damaging Het
Utp4 G A 8: 107,625,095 (GRCm39) V125M probably damaging Het
Vmn1r119 T A 7: 20,745,777 (GRCm39) M202L possibly damaging Het
Zfp292 G C 4: 34,816,301 (GRCm39) F329L probably benign Het
Zfp541 C T 7: 15,829,445 (GRCm39) P1281L probably damaging Het
Zfp616 A T 11: 73,973,968 (GRCm39) Q79L possibly 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
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
R8477:Ackr1 UTSW 1 173,159,755 (GRCm39) missense probably damaging 1.00
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'- TGTCTCTGGAGGATGGAAAGGC -3'
(R):5'- TCATGCTCACCAGTGTCCTG -3'

Sequencing Primer
(F):5'- GCAGAAGCCATTGTAAGCATCACTG -3'
(R):5'- CAGTGTCCTGGGCATGCTG -3'
Posted On 2018-06-06