Incidental Mutation 'R8234:Ackr1'
ID 637244
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 067666-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8234 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 173159457-173161079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 173159582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 312 (R312S)
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 benign
Transcript: ENSMUST00000038227
AA Change: R312S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045134
Gene: ENSMUSG00000037872
AA Change: R312S

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T A 14: 54,499,133 (GRCm39) M38K probably benign Het
Akap9 T C 5: 4,094,845 (GRCm39) V2213A probably benign Het
Alox5 T A 6: 116,390,835 (GRCm39) R439W probably damaging Het
Atrn A T 2: 130,864,920 (GRCm39) probably null Het
Casd1 A G 6: 4,601,209 (GRCm39) N14S probably damaging Het
Cry2 T C 2: 92,242,974 (GRCm39) S542G probably benign Het
Cyb5rl A G 4: 106,925,935 (GRCm39) Y39C probably damaging Het
Dmpk A T 7: 18,822,048 (GRCm39) K335N probably benign Het
Dnai1 A G 4: 41,625,221 (GRCm39) D395G probably benign Het
Dock4 C T 12: 40,884,837 (GRCm39) probably null Het
Eif1ad5 A T 12: 87,940,508 (GRCm39) I71L noncoding transcript Het
Fmo4 T C 1: 162,632,757 (GRCm39) D198G probably damaging Het
Foxc2 G A 8: 121,844,777 (GRCm39) R475Q probably damaging Het
Gipr C A 7: 18,898,533 (GRCm39) G37V unknown Het
Gpat3 T C 5: 101,005,076 (GRCm39) probably null Het
Hcn4 A G 9: 58,751,433 (GRCm39) D353G unknown Het
Hectd4 T A 5: 121,477,607 (GRCm39) N2843K possibly damaging Het
Hmcn1 C T 1: 150,469,761 (GRCm39) V4973M possibly damaging Het
Il20rb C T 9: 100,341,263 (GRCm39) S281N probably benign Het
Kcnh4 A T 11: 100,643,093 (GRCm39) N391K possibly damaging Het
Kitl A G 10: 99,887,708 (GRCm39) T6A probably damaging Het
Krt36 A G 11: 99,995,027 (GRCm39) Y182H probably damaging Het
Lrp1b T G 2: 41,202,668 (GRCm39) I1262L Het
Mtf1 A G 4: 124,738,039 (GRCm39) E644G probably benign Het
Mtx2 A G 2: 74,699,706 (GRCm39) Y159C probably damaging Het
Nags C T 11: 102,039,824 (GRCm39) S504F probably damaging Het
Ncam1 A T 9: 49,456,523 (GRCm39) F475L probably damaging Het
Nipal2 G T 15: 34,600,178 (GRCm39) T213N possibly damaging Het
Or52m1 T A 7: 102,289,678 (GRCm39) L75Q probably damaging Het
Or8h8 A G 2: 86,753,313 (GRCm39) S188P probably damaging Het
Pkm T C 9: 59,577,882 (GRCm39) V233A possibly damaging Het
Pros1 T A 16: 62,748,540 (GRCm39) I671N possibly damaging Het
Rasd1 T C 11: 59,855,118 (GRCm39) I121V probably damaging Het
Relch T C 1: 105,681,235 (GRCm39) S1180P possibly damaging Het
Samhd1 A G 2: 156,958,270 (GRCm39) probably null Het
Serpinb9f A T 13: 33,509,898 (GRCm39) Y30F probably benign Het
Slc5a10 T C 11: 61,564,107 (GRCm39) I543V probably benign Het
Stat5a A G 11: 100,770,129 (GRCm39) I469V possibly damaging Het
Sugct T C 13: 17,032,459 (GRCm39) E431G probably benign Het
Tecr C A 8: 84,299,880 (GRCm39) R133L possibly damaging Het
Tiparp A G 3: 65,439,002 (GRCm39) N106S probably benign Het
Triml1 T C 8: 43,594,285 (GRCm39) S49G probably benign Het
Trpm3 T A 19: 22,692,640 (GRCm39) S244T possibly damaging Het
Ttn T C 2: 76,553,324 (GRCm39) D31055G probably damaging Het
Vcp A T 4: 42,985,242 (GRCm39) I369N probably damaging Het
Vmn2r110 A C 17: 20,804,691 (GRCm39) N76K probably benign Het
Vmn2r12 T C 5: 109,234,074 (GRCm39) T713A probably benign Het
Vmn2r17 A T 5: 109,601,235 (GRCm39) K844N probably benign 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
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'- TCCAGGACAGCTCTAAGGAC -3'
(R):5'- CATTTTCTGGTGGCCTCATG -3'

Sequencing Primer
(F):5'- CAGCTCTAAGGACAGGAAAGG -3'
(R):5'- GCCTCATGGGATGGTTCTC -3'
Posted On 2020-07-13