Incidental Mutation 'R2274:Ackr1'
ID 244939
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2274 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 173159457-173161079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 173160052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 156 (N156D)
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: N156D

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000045134
Gene: ENSMUSG00000037872
AA Change: N156D

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194298
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Abcb10 G T 8: 124,709,491 (GRCm39) A21E probably benign Het
Adamtsl3 A T 7: 82,255,766 (GRCm39) S1593C probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Aqp4 A G 18: 15,526,537 (GRCm39) S315P probably benign Het
Atp7b T C 8: 22,510,848 (GRCm39) I433V probably benign Het
Bco1 G A 8: 117,835,522 (GRCm39) probably null Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Calhm3 T A 19: 47,145,986 (GRCm39) Q73L probably damaging Het
Car5a C T 8: 122,671,408 (GRCm39) probably null Het
Cdk11b T A 4: 155,732,051 (GRCm39) probably benign Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
Egr4 A T 6: 85,489,725 (GRCm39) F112I probably damaging Het
Emilin1 C T 5: 31,075,082 (GRCm39) P441L possibly damaging Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Fat4 T A 3: 39,050,048 (GRCm39) V3970D possibly damaging Het
Fbxw5 C A 2: 25,394,773 (GRCm39) C222* probably null Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Ghr A G 15: 3,349,507 (GRCm39) V557A probably benign Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpatch1 A T 7: 34,988,103 (GRCm39) S678T probably benign Het
Gpr155 A G 2: 73,178,479 (GRCm39) probably null Het
Gucy2f A T X: 140,899,269 (GRCm39) M697K probably benign Het
Hecw1 T C 13: 14,520,653 (GRCm39) T195A probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Irf8 A G 8: 121,480,266 (GRCm39) E168G probably damaging Het
Kcnh1 T G 1: 192,019,829 (GRCm39) V358G probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
L3hypdh T C 12: 72,131,632 (GRCm39) Y100C possibly damaging Het
Map4k1 T A 7: 28,701,382 (GRCm39) H729Q probably damaging Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mier2 T C 10: 79,380,368 (GRCm39) I321V probably damaging Het
Mta1 C T 12: 113,091,770 (GRCm39) S291L probably damaging Het
Myh2 A G 11: 67,081,184 (GRCm39) K1267E possibly damaging Het
Nbea A T 3: 55,895,506 (GRCm39) probably null Het
Nexmif T G X: 103,131,452 (GRCm39) E155A possibly damaging Het
Nkpd1 A G 7: 19,257,822 (GRCm39) I534V probably benign Het
Nxph1 G T 6: 9,247,746 (GRCm39) C239F probably damaging Het
Odc1 A G 12: 17,598,425 (GRCm39) I189V probably benign Het
Or1n1 A T 2: 36,750,113 (GRCm39) N82K probably damaging Het
Or2t44 T C 11: 58,677,492 (GRCm39) V144A probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb15 T C 18: 37,608,496 (GRCm39) L576P probably damaging Het
Raph1 T C 1: 60,537,659 (GRCm39) D499G probably damaging Het
Rptor T A 11: 119,647,148 (GRCm39) C246* probably null Het
Rtl1 T C 12: 109,561,101 (GRCm39) E246G unknown Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Slc4a8 A G 15: 100,705,283 (GRCm39) M830V probably benign Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
St3gal6 T A 16: 58,309,332 (GRCm39) E34D possibly damaging Het
Tcstv3 C T 13: 120,779,190 (GRCm39) Q30* probably null Het
Tex16 T A X: 111,030,838 (GRCm39) D1112E probably damaging Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tmf1 T A 6: 97,140,547 (GRCm39) L776F probably damaging Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn1r49 G A 6: 90,049,126 (GRCm39) T292I probably benign Het
Wdr19 T A 5: 65,398,334 (GRCm39) M853K possibly damaging Het
Zkscan8 C T 13: 21,705,966 (GRCm39) M265I 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
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
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'- CCTTGGCTGCCAAAAGAGTC -3'
(R):5'- CCCATTCTGGCAGAGTTAGC -3'

Sequencing Primer
(F):5'- CTGCCAAAAGAGTCGGTGGC -3'
(R):5'- CATTCTGGCAGAGTTAGCAGTGG -3'
Posted On 2014-10-30