Incidental Mutation 'R3839:Ackr3'
ID 277039
Institutional Source Beutler Lab
Gene Symbol Ackr3
Ensembl Gene ENSMUSG00000044337
Gene Name atypical chemokine receptor 3
Synonyms Rdc1, Cxcr7, Cmkor1
MMRRC Submission 040892-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3839 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 90131702-90143446 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90141850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 103 (S103N)
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: S103N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069114
Gene: ENSMUSG00000044337
AA Change: S103N

DomainStartEndE-ValueType
Pfam:7tm_1 61 315 5.9e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159654
Meta Mutation Damage Score 0.4372 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 98% (48/49)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028I16Rik A G 10: 82,648,219 (GRCm39) noncoding transcript Het
Abraxas2 T A 7: 132,484,867 (GRCm39) S303R probably benign Het
Arhgef25 T C 10: 127,025,605 (GRCm39) T12A probably benign Het
Aspm C T 1: 139,405,792 (GRCm39) H1560Y probably benign Het
Atg10 A T 13: 91,085,499 (GRCm39) I150K probably damaging Het
AW551984 T C 9: 39,509,204 (GRCm39) probably benign Het
Cald1 A T 6: 34,722,700 (GRCm39) D122V probably damaging Het
Cc2d2a T C 5: 43,876,056 (GRCm39) V1011A probably benign Het
Cdh9 G T 15: 16,823,524 (GRCm39) E169* probably null Het
Cmbl T C 15: 31,582,144 (GRCm39) V47A probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Ctnnd2 T A 15: 31,009,174 (GRCm39) probably null Het
Cyp4a10 A C 4: 115,382,544 (GRCm39) E278A possibly damaging Het
Ddx56 T C 11: 6,217,712 (GRCm39) D3G probably benign Het
Dnajb2 G A 1: 75,218,124 (GRCm39) probably null Het
Eif3d T A 15: 77,848,300 (GRCm39) T211S probably benign Het
Fam13c C T 10: 70,378,478 (GRCm39) S336L probably damaging Het
Garnl3 C T 2: 32,879,558 (GRCm39) G923S probably benign Het
Gcnt4 A T 13: 97,083,522 (GRCm39) R273* probably null Het
Gldc T A 19: 30,096,075 (GRCm39) probably benign Het
Glra2 C T X: 164,072,612 (GRCm39) V85I probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gpam T C 19: 55,068,890 (GRCm39) N450S probably benign Het
Gpr156 T A 16: 37,808,962 (GRCm39) V228D probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hmgcr A G 13: 96,795,597 (GRCm39) I324T probably benign Het
Itga3 A G 11: 94,948,095 (GRCm39) probably null Het
Itih1 T A 14: 30,657,785 (GRCm39) N429Y probably damaging Het
Klhl40 A G 9: 121,609,482 (GRCm39) Y453C possibly damaging Het
Mid1ip1 T C X: 10,584,620 (GRCm39) V51A possibly damaging Het
Msn C A X: 95,203,805 (GRCm39) Q303K probably damaging Het
Nap1l1 T A 10: 111,331,183 (GRCm39) probably null Het
Rala A T 13: 18,067,759 (GRCm39) C91S probably damaging Het
Rps9 A G 7: 3,709,823 (GRCm39) probably benign Het
Sdr16c5 C A 4: 4,006,601 (GRCm39) M230I probably damaging Het
Sec14l3 A G 11: 4,021,544 (GRCm39) probably null Het
Senp2 T C 16: 21,828,485 (GRCm39) S32P probably damaging Het
Skor1 A C 9: 63,051,730 (GRCm39) S746R probably damaging Het
Slc17a4 C T 13: 24,085,752 (GRCm39) R387H probably benign Het
Slc47a1 G T 11: 61,243,884 (GRCm39) probably benign Het
Slit3 A T 11: 35,399,064 (GRCm39) N143I probably benign Het
Tpbg T C 9: 85,725,167 (GRCm39) probably benign Het
Tubb2a G T 13: 34,259,294 (GRCm39) N165K probably benign Het
Usp14 A G 18: 10,024,532 (GRCm39) probably null Het
Vmn2r109 A G 17: 20,774,704 (GRCm39) V217A probably damaging Het
Zfp108 A G 7: 23,959,981 (GRCm39) I191V probably benign 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
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
R6574:Ackr3 UTSW 1 90,141,790 (GRCm39) missense probably damaging 0.96
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'- CCATGTAACAGCAGCGACTG -3'
(R):5'- AACACGGCGTACCATCTTCTTC -3'

Sequencing Primer
(F):5'- TGCCTAACAAGAACGTGCTTCTG -3'
(R):5'- ACCATCTTCTTCTTATAGCTGGAGG -3'
Posted On 2015-04-06