Incidental Mutation 'R6574:Ackr3'
ID 523335
Institutional Source Beutler Lab
Gene Symbol Ackr3
Ensembl Gene ENSMUSG00000044337
Gene Name atypical chemokine receptor 3
Synonyms Rdc1, Cxcr7, Cmkor1
MMRRC Submission 044698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 90131702-90143446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90141790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 83 (I83T)
Ref Sequence ENSEMBL: ENSMUSP00000069114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065587] [ENSMUST00000159654]
AlphaFold P56485
Predicted Effect probably damaging
Transcript: ENSMUST00000065587
AA Change: I83T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069114
Gene: ENSMUSG00000044337
AA Change: I83T

DomainStartEndE-ValueType
Pfam:7tm_1 61 315 5.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159654
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutations result in perinatal lethality with cardiac defects including semilunar valve defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A C 3: 146,356,613 (GRCm39) D98E probably benign Het
Ahnak A T 19: 8,994,411 (GRCm39) M5232L probably benign Het
Ano1 A C 7: 144,161,653 (GRCm39) probably null Het
Arap1 T A 7: 101,053,208 (GRCm39) I532N probably damaging Het
Bsn A G 9: 107,991,153 (GRCm39) V1533A possibly damaging Het
Ccdc83 T C 7: 89,875,885 (GRCm39) S329G possibly damaging Het
Ccno T A 13: 113,124,719 (GRCm39) D96E probably benign Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Degs1 T C 1: 182,106,638 (GRCm39) Y207C probably damaging Het
Dnah7a A T 1: 53,495,693 (GRCm39) probably null Het
Dnah9 C T 11: 66,059,107 (GRCm39) A63T probably benign Het
Eif4e1b T C 13: 54,932,711 (GRCm39) F100S probably damaging Het
Eps8 A T 6: 137,460,596 (GRCm39) Y722* probably null Het
Etfa A T 9: 55,402,910 (GRCm39) I96N probably damaging Het
Flt4 A G 11: 49,516,199 (GRCm39) T101A probably benign Het
Gabra4 A G 5: 71,781,268 (GRCm39) I381T probably benign Het
Gria2 A G 3: 80,596,603 (GRCm39) V821A probably damaging Het
Gss G T 2: 155,423,931 (GRCm39) T51K probably damaging Het
Igkv13-84 C A 6: 68,916,977 (GRCm39) Y91* probably null Het
Iqcb1 A T 16: 36,691,863 (GRCm39) Q487H probably damaging Het
Itga8 G A 2: 12,234,972 (GRCm39) H429Y probably benign Het
Myo1c T G 11: 75,547,124 (GRCm39) probably benign Het
Odad2 C A 18: 7,129,394 (GRCm39) probably null Het
Pcdhga5 T C 18: 37,828,434 (GRCm39) L294P probably damaging Het
Pkd2l2 T C 18: 34,558,134 (GRCm39) L271P probably damaging Het
Plcb2 T C 2: 118,549,654 (GRCm39) D290G probably damaging Het
Pmp22 C T 11: 63,049,099 (GRCm39) A114V probably damaging Het
Ppp1r15a T C 7: 45,173,533 (GRCm39) D425G probably benign Het
Ppp2r3d G A 9: 101,071,584 (GRCm39) P678L probably benign Het
Ptbp2 T G 3: 119,541,596 (GRCm39) Q147P probably damaging Het
Sez6l A G 5: 112,724,692 (GRCm39) S15P possibly damaging Het
Slc25a10 T C 11: 120,387,903 (GRCm39) F199L probably benign Het
Slc4a8 A G 15: 100,705,197 (GRCm39) N801S probably damaging Het
Sucnr1 T C 3: 59,994,020 (GRCm39) Y183H probably damaging Het
Tmem67 T C 4: 12,063,086 (GRCm39) D520G possibly damaging Het
Trgc3 G T 13: 19,445,293 (GRCm39) R80S probably benign Het
Trrap G T 5: 144,752,360 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,473,331 (GRCm39) P803L probably benign Het
Ubash3a A T 17: 31,451,370 (GRCm39) Q423L probably damaging Het
Ucp1 G A 8: 84,020,718 (GRCm39) probably null Het
Vmn2r94 G T 17: 18,476,421 (GRCm39) N425K probably damaging Het
Vps52 A G 17: 34,181,452 (GRCm39) M418V probably null Het
Other mutations in Ackr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01599:Ackr3 APN 1 90,141,856 (GRCm39) missense probably benign 0.03
P0042:Ackr3 UTSW 1 90,142,600 (GRCm39) missense probably damaging 1.00
R0616:Ackr3 UTSW 1 90,142,191 (GRCm39) missense probably benign 0.00
R1792:Ackr3 UTSW 1 90,142,620 (GRCm39) missense probably benign 0.08
R2074:Ackr3 UTSW 1 90,141,703 (GRCm39) missense probably damaging 1.00
R2152:Ackr3 UTSW 1 90,141,565 (GRCm39) missense probably benign 0.00
R3839:Ackr3 UTSW 1 90,141,850 (GRCm39) missense probably damaging 1.00
R4683:Ackr3 UTSW 1 90,141,709 (GRCm39) missense probably damaging 0.96
R5569:Ackr3 UTSW 1 90,142,563 (GRCm39) missense probably benign 0.30
R7324:Ackr3 UTSW 1 90,141,923 (GRCm39) missense probably damaging 1.00
R7939:Ackr3 UTSW 1 90,142,287 (GRCm39) missense probably benign 0.31
R8185:Ackr3 UTSW 1 90,141,666 (GRCm39) missense probably benign 0.00
R9242:Ackr3 UTSW 1 90,142,558 (GRCm39) missense probably damaging 1.00
R9520:Ackr3 UTSW 1 90,141,971 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACTACTCTGACATCAACTGGCC -3'
(R):5'- TGATGGAGAGATAGCGGTCC -3'

Sequencing Primer
(F):5'- TGGCCATGTAACAGCAGC -3'
(R):5'- TCCACGCTCATGCAGGC -3'
Posted On 2018-06-22