Incidental Mutation 'R5683:Arl2'
ID 443212
Institutional Source Beutler Lab
Gene Symbol Arl2
Ensembl Gene ENSMUSG00000024944
Gene Name ADP-ribosylation factor-like 2
Synonyms arf-like protein 2, 2610009M23Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R5683 (G1)
Quality Score 94
Status Not validated
Chromosome 19
Chromosomal Location 6184419-6191167 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 6184794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 153 (R153L)
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 benign
Transcript: ENSMUST00000025893
AA Change: R153L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944
AA Change: R153L

DomainStartEndE-ValueType
ARF 1 180 8.03e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134821
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A C 11: 72,093,266 (GRCm39) M22R probably benign Het
Acad11 A G 9: 103,961,482 (GRCm39) E397G probably damaging Het
Actrt3 A T 3: 30,652,427 (GRCm39) D222E probably benign Het
Akap11 A T 14: 78,750,018 (GRCm39) S790T probably damaging Het
Arhgap5 T A 12: 52,566,369 (GRCm39) D1113E probably benign Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
Ccdc138 C A 10: 58,376,641 (GRCm39) Q425K probably damaging Het
Ccdc178 T A 18: 22,263,179 (GRCm39) K143N probably benign Het
Cd200r4 T A 16: 44,653,311 (GRCm39) I73K probably benign Het
Chaf1b A G 16: 93,684,030 (GRCm39) K94E possibly damaging Het
Cmtm2a T C 8: 105,019,676 (GRCm39) probably null Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Fnbp4 C A 2: 90,583,206 (GRCm39) N277K probably damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Itsn1 T C 16: 91,702,268 (GRCm39) Y37H probably benign Het
Kdm8 A G 7: 125,054,345 (GRCm39) Y16C possibly damaging Het
Kif1b A T 4: 149,306,718 (GRCm39) Y881N probably damaging Het
Lhcgr C T 17: 89,079,447 (GRCm39) V80I probably benign Het
Lrriq1 T A 10: 103,009,236 (GRCm39) L1082F probably damaging Het
Met A G 6: 17,571,743 (GRCm39) Y1354C probably damaging Het
Nbea A G 3: 55,536,007 (GRCm39) L2859P possibly damaging Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrp4e T C 7: 23,052,697 (GRCm39) I872T probably damaging Het
Npnt A T 3: 132,612,601 (GRCm39) probably null Het
Nsd1 G A 13: 55,393,961 (GRCm39) V521I probably benign Het
Or2n1e G A 17: 38,586,437 (GRCm39) M258I possibly damaging Het
Pak6 T A 2: 118,524,393 (GRCm39) Y469N probably damaging Het
Parp4 C T 14: 56,884,886 (GRCm39) R1322* probably null Het
Pax6 T C 2: 105,516,252 (GRCm39) Y177H probably benign Het
Pcdhb4 A T 18: 37,442,042 (GRCm39) T451S probably benign Het
Pcdhgb5 A T 18: 37,864,907 (GRCm39) D234V probably damaging Het
Pramel11 A G 4: 143,622,423 (GRCm39) S311P probably damaging Het
Ralb G A 1: 119,403,686 (GRCm39) A147V possibly damaging Het
Rgs11 A G 17: 26,424,155 (GRCm39) K196E probably benign Het
Rnft1 A T 11: 86,382,616 (GRCm39) T280S probably benign Het
Slco4c1 G T 1: 96,795,559 (GRCm39) H166Q probably damaging Het
Sycp3 T C 10: 88,308,797 (GRCm39) S248P probably damaging Het
Tab2 A G 10: 7,794,876 (GRCm39) probably null Het
Tgm6 T C 2: 129,980,875 (GRCm39) M224T probably damaging Het
Topbp1 A T 9: 103,190,003 (GRCm39) E193V possibly damaging Het
Trim36 T C 18: 46,302,359 (GRCm39) Y551C probably damaging Het
Ttc17 T C 2: 94,192,866 (GRCm39) Y628C probably damaging Het
Vmn1r180 A C 7: 23,652,635 (GRCm39) D266A possibly damaging Het
Vmn2r104 T A 17: 20,260,981 (GRCm39) K481* probably null Het
Zc3hav1 A G 6: 38,284,172 (GRCm39) V981A 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
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
R8212:Arl2 UTSW 19 6,187,596 (GRCm39) missense probably damaging 1.00
R8226:Arl2 UTSW 19 6,187,506 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTAATAGCAGCAGCAGGTCATG -3'
(R):5'- CTGCAAAATGCCTGGTCCTG -3'

Sequencing Primer
(F):5'- AGCAGGTCATGGTGGGG -3'
(R):5'- AAATGCCTGGTCCTGTCACAC -3'
Posted On 2016-11-09