Incidental Mutation 'IGL02094:Arl3'
ID 279548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl3
Ensembl Gene ENSMUSG00000025035
Gene Name ADP-ribosylation factor-like 3
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02094
Quality Score
Status
Chromosome 19
Chromosomal Location 46519548-46561621 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46546780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 15 (D15G)
Ref Sequence ENSEMBL: ENSMUSP00000026009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026009]
AlphaFold Q9WUL7
PDB Structure CRYSTAL STRUCTURE OF MURINE ARL3-GDP [X-RAY DIFFRACTION]
Crystal structure of the RP2-Arl3 complex bound to GppNHp [X-RAY DIFFRACTION]
Crystal structure of the RP2-Arl3 complex bound to GDP-AlF4 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000026009
AA Change: D15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026009
Gene: ENSMUSG00000025035
AA Change: D15G

DomainStartEndE-ValueType
ARF 1 181 2.2e-57 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are born at sub-Mendelian ratios, are small and sickly, fail to thrive, and die by 3 weeks of age exhibiting photoreceptor degeneration and abnormal epithelial cell proliferation and cyst formation in the kidney,liver, and pancreatic tubule structures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,324,480 (GRCm39) N658S possibly damaging Het
Adcy10 T C 1: 165,398,189 (GRCm39) Y1429H probably damaging Het
Aebp1 G A 11: 5,818,357 (GRCm39) M98I probably benign Het
Casp2 T A 6: 42,257,293 (GRCm39) I414N probably damaging Het
Ceacam1 T C 7: 25,173,968 (GRCm39) D229G probably damaging Het
Cog7 G T 7: 121,562,470 (GRCm39) A234E probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a59 A T 5: 146,041,631 (GRCm39) T392S probably benign Het
Ebf2 G A 14: 67,472,689 (GRCm39) V36M possibly damaging Het
Fbxw15 A C 9: 109,387,308 (GRCm39) V229G possibly damaging Het
Got1l1 A G 8: 27,689,873 (GRCm39) V171A probably benign Het
Itgax A G 7: 127,730,645 (GRCm39) Y121C probably damaging Het
Kcng4 C A 8: 120,359,960 (GRCm39) A139S probably damaging Het
Kcnj9 G T 1: 172,153,275 (GRCm39) T283K probably damaging Het
Mgl2 T A 11: 70,027,923 (GRCm39) I377K possibly damaging Het
Myo15a T C 11: 60,401,473 (GRCm39) probably benign Het
Nod1 A T 6: 54,916,375 (GRCm39) probably null Het
Nr1h5 A T 3: 102,859,512 (GRCm39) C182* probably null Het
Nup210l G T 3: 90,087,520 (GRCm39) probably null Het
Ptbp2 G A 3: 119,546,589 (GRCm39) probably benign Het
Ptpn13 T G 5: 103,742,483 (GRCm39) F2401V probably damaging Het
Rbbp6 T C 7: 122,596,485 (GRCm39) S676P probably damaging Het
Recql4 T A 15: 76,593,717 (GRCm39) Q131L probably benign Het
Sbno2 G A 10: 79,893,479 (GRCm39) P1274L probably benign Het
Sec24c T C 14: 20,738,470 (GRCm39) V341A probably damaging Het
Smc1b A T 15: 84,982,092 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,050,659 (GRCm39) H2310R probably benign Het
Tas2r109 T A 6: 132,957,202 (GRCm39) I243F possibly damaging Het
Trpc1 A C 9: 95,625,334 (GRCm39) D97E probably damaging Het
Trpm2 G A 10: 77,778,830 (GRCm39) Q379* probably null Het
Ttn A G 2: 76,649,167 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,610,669 (GRCm39) F8I probably benign Het
Zfp36 C T 7: 28,077,188 (GRCm39) S240N probably benign Het
Zfp65 A G 13: 67,856,304 (GRCm39) I325T possibly damaging Het
Other mutations in Arl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02109:Arl3 APN 19 46,530,785 (GRCm39) splice site probably benign
R8006:Arl3 UTSW 19 46,546,813 (GRCm39) missense probably damaging 1.00
R8406:Arl3 UTSW 19 46,530,823 (GRCm39) missense probably benign 0.01
R8458:Arl3 UTSW 19 46,546,709 (GRCm39) missense probably benign
R9312:Arl3 UTSW 19 46,531,964 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16