Incidental Mutation 'IGL00841:Arl2'
ID88912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl2
Ensembl Gene ENSMUSG00000024944
Gene NameADP-ribosylation factor-like 2
Synonyms2610009M23Rik, arf-like protein 2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock #IGL00841
Quality Score
Status
Chromosome19
Chromosomal Location6134374-6141406 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 6135969 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025893]
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
SMART Domains Protein: ENSMUSP00000025893
Gene: ENSMUSG00000024944

DomainStartEndE-ValueType
ARF 1 180 8.03e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134821
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1b T C 13: 96,417,830 probably benign Het
Atp8b4 A G 2: 126,383,769 S514P probably damaging Het
Ces1a G T 8: 93,039,536 S150* probably null Het
Ces1g T A 8: 93,302,987 D539V possibly damaging Het
Col24a1 A G 3: 145,362,309 D752G probably damaging Het
Ctsd A C 7: 142,382,681 S128A probably damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dscam G A 16: 96,819,877 L544F probably damaging Het
Fry T A 5: 150,422,724 I1566N probably benign Het
Fut8 T A 12: 77,365,321 H148Q probably benign Het
Ighv1-64 A T 12: 115,507,976 M1K probably null Het
Ivd T C 2: 118,876,902 V299A probably benign Het
Kcnab3 A G 11: 69,331,303 I292V probably benign Het
Mfhas1 T A 8: 35,590,886 N838K probably damaging Het
Prom1 A T 5: 44,063,116 probably benign Het
Ros1 T G 10: 52,144,873 T648P possibly damaging Het
Scel A T 14: 103,529,995 Q30L probably benign Het
Skp2 A C 15: 9,139,487 S40R probably benign Het
Tm9sf1 T A 14: 55,642,727 K71M probably damaging Het
Vegfb A G 19: 6,986,478 W38R probably damaging Het
Xpo1 T G 11: 23,285,094 F588V probably damaging Het
Zfp990 C A 4: 145,537,868 L479M probably damaging Het
Other mutations in Arl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00482:Arl2 APN 19 6141052 missense probably damaging 1.00
IGL01883:Arl2 APN 19 6137491 missense probably damaging 1.00
R0833:Arl2 UTSW 19 6136022 missense probably damaging 1.00
R1300:Arl2 UTSW 19 6141073 missense probably benign 0.00
R3952:Arl2 UTSW 19 6134677 missense probably benign 0.03
R4669:Arl2 UTSW 19 6134686 missense probably damaging 1.00
R4692:Arl2 UTSW 19 6137746 missense probably damaging 0.99
R5683:Arl2 UTSW 19 6134764 missense probably benign
R6715:Arl2 UTSW 19 6137525 missense probably damaging 1.00
R7027:Arl2 UTSW 19 6141089 missense probably benign 0.00
R7100:Arl2 UTSW 19 6134744 missense probably benign 0.01
R8212:Arl2 UTSW 19 6137566 missense probably damaging 1.00
R8226:Arl2 UTSW 19 6137476 critical splice donor site probably null
Posted On2013-12-03