Incidental Mutation 'R8212:Arl2'
ID 636229
Institutional Source Beutler Lab
Gene Symbol Arl2
Ensembl Gene ENSMUSG00000024944
Gene Name ADP-ribosylation factor-like 2
Synonyms arf-like protein 2, 2610009M23Rik
MMRRC Submission 067635-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R8212 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6184419-6191167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 6187596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 84 (T84K)
Ref Sequence ENSEMBL: ENSMUSP00000025893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025893]
AlphaFold Q9D0J4
PDB Structure Complex of Arl2 and PDE delta, Crystal Form 1 [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (native) [X-RAY DIFFRACTION]
Complex of Arl2 and PDE delta, Crystal Form 2 (SeMet) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000025893
AA Change: T84K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944
AA Change: T84K

DomainStartEndE-ValueType
ARF 1 180 8.03e-60 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,670,240 (GRCm39) I2369V probably benign Het
Ager G A 17: 34,819,586 (GRCm39) R368H possibly damaging Het
Cfap126 A T 1: 170,953,630 (GRCm39) T67S probably damaging Het
Cfap45 A G 1: 172,369,067 (GRCm39) probably null Het
Cfdp1 A T 8: 112,571,815 (GRCm39) N31K probably damaging Het
Clpx A G 9: 65,228,173 (GRCm39) T408A possibly damaging Het
Cobll1 T C 2: 64,932,424 (GRCm39) N526S probably benign Het
Cpne1 T C 2: 155,920,134 (GRCm39) D215G probably damaging Het
Cstf1 T C 2: 172,219,872 (GRCm39) S328P probably damaging Het
Cyp2a22 T C 7: 26,637,205 (GRCm39) E193G possibly damaging Het
Fam83c A G 2: 155,671,207 (GRCm39) F743L probably benign Het
Fn1 A G 1: 71,682,064 (GRCm39) I364T probably benign Het
Foxo3 T C 10: 42,072,991 (GRCm39) M509V possibly damaging Het
Galnt6 T C 15: 100,591,308 (GRCm39) T599A probably benign Het
Gm5114 A G 7: 39,060,676 (GRCm39) S58P probably benign Het
Gria4 G A 9: 4,480,242 (GRCm39) A402V probably benign Het
Heatr5a C A 12: 51,946,012 (GRCm39) A1200S probably benign Het
Nlrp5 A T 7: 23,116,762 (GRCm39) D162V probably benign Het
Or14j6 T C 17: 38,215,148 (GRCm39) V237A probably benign Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pcf11 G A 7: 92,308,706 (GRCm39) R589C probably damaging Het
Pkhd1l1 A G 15: 44,362,696 (GRCm39) D574G probably benign Het
Plb1 T C 5: 32,422,250 (GRCm39) S68P probably damaging Het
Plekhs1 A G 19: 56,460,188 (GRCm39) M95V probably damaging Het
Polr2h T C 16: 20,536,746 (GRCm39) probably null Het
Ppef2 T A 5: 92,376,524 (GRCm39) I668L possibly damaging Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rwdd1 A G 10: 33,878,523 (GRCm39) V104A probably damaging Het
Slc2a9 G T 5: 38,637,402 (GRCm39) H25N probably benign Het
Slc36a3 T A 11: 55,015,907 (GRCm39) I416F probably damaging Het
Sppl2b T A 10: 80,701,193 (GRCm39) V356D probably damaging Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tln1 T C 4: 43,555,918 (GRCm39) T99A probably damaging Het
Tm9sf3 A T 19: 41,229,074 (GRCm39) M243K probably damaging Het
Trnt1 T C 6: 106,746,832 (GRCm39) Y6H probably benign Het
Ttn T A 2: 76,612,626 (GRCm39) H17151L probably benign Het
Ube2o A G 11: 116,439,624 (GRCm39) V182A possibly damaging Het
Zfhx2 G T 14: 55,310,373 (GRCm39) D724E possibly damaging Het
Zfp616 T A 11: 73,976,569 (GRCm39) V946D probably damaging Het
Other mutations in Arl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Arl2 APN 19 6,191,082 (GRCm39) missense probably damaging 1.00
IGL00841:Arl2 APN 19 6,185,999 (GRCm39) splice site probably benign
IGL01883:Arl2 APN 19 6,187,521 (GRCm39) missense probably damaging 1.00
R0833:Arl2 UTSW 19 6,186,052 (GRCm39) missense probably damaging 1.00
R1300:Arl2 UTSW 19 6,191,103 (GRCm39) missense probably benign 0.00
R3952:Arl2 UTSW 19 6,184,707 (GRCm39) missense probably benign 0.03
R4669:Arl2 UTSW 19 6,184,716 (GRCm39) missense probably damaging 1.00
R4692:Arl2 UTSW 19 6,187,776 (GRCm39) missense probably damaging 0.99
R5683:Arl2 UTSW 19 6,184,794 (GRCm39) missense probably benign
R6715:Arl2 UTSW 19 6,187,555 (GRCm39) missense probably damaging 1.00
R7027:Arl2 UTSW 19 6,191,119 (GRCm39) missense probably benign 0.00
R7100:Arl2 UTSW 19 6,184,774 (GRCm39) missense probably benign 0.01
R8226:Arl2 UTSW 19 6,187,506 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGCATCCAAGTCTCAGCCTG -3'
(R):5'- TTCAACATCAAGACCCTGGAG -3'

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