Incidental Mutation 'R1160:Arl5b'
ID 100281
Institutional Source Beutler Lab
Gene Symbol Arl5b
Ensembl Gene ENSMUSG00000017418
Gene Name ADP-ribosylation factor-like 5B
Synonyms Arl8, 4930587A11Rik
MMRRC Submission 039233-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1160 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 15060066-15087267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15074648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 43 (V43A)
Ref Sequence ENSEMBL: ENSMUSP00000069725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]
AlphaFold Q9D4P0
Predicted Effect probably benign
Transcript: ENSMUST00000017562
AA Change: V34A

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: V34A

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069870
AA Change: V43A

PolyPhen 2 Score 0.359 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: V43A

DomainStartEndE-ValueType
ARF 2 180 3.95e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128682
Predicted Effect silent
Transcript: ENSMUST00000129509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192653
Predicted Effect probably benign
Transcript: ENSMUST00000193836
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 G T 1: 89,770,876 (GRCm39) K622N probably damaging Het
Ap3b2 A T 7: 81,115,917 (GRCm39) probably null Het
Astn1 T C 1: 158,427,935 (GRCm39) V702A possibly damaging Het
Bach1 T C 16: 87,512,322 (GRCm39) V15A probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccar2 C T 14: 70,377,218 (GRCm39) V774M probably benign Het
Dcaf5 T C 12: 80,386,989 (GRCm39) D379G possibly damaging Het
Dcpp1 T A 17: 24,100,405 (GRCm39) I45K possibly damaging Het
Ddx17 T A 15: 79,425,288 (GRCm39) S128C probably damaging Het
Eml3 A G 19: 8,910,614 (GRCm39) N192S probably benign Het
Epha3 T G 16: 63,593,431 (GRCm39) D219A probably damaging Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Khdc4 C A 3: 88,616,169 (GRCm39) P452Q probably damaging Het
Klhl5 A G 5: 65,298,683 (GRCm39) N154S probably benign Het
Lrif1 A G 3: 106,640,033 (GRCm39) N373D possibly damaging Het
Map3k20 A G 2: 72,271,864 (GRCm39) N664S probably benign Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pglyrp4 T A 3: 90,636,138 (GRCm39) probably null Het
Pole A G 5: 110,443,119 (GRCm39) E349G possibly damaging Het
Ptprj A G 2: 90,274,868 (GRCm39) Y1165H probably damaging Het
Rasd1 T A 11: 59,855,547 (GRCm39) I29F possibly damaging Het
Scamp3 T C 3: 89,088,505 (GRCm39) F237S probably damaging Het
Sccpdh T G 1: 179,511,775 (GRCm39) D82E probably benign Het
Slc19a3 A C 1: 83,000,413 (GRCm39) H201Q possibly damaging Het
Slc5a4a G A 10: 76,013,995 (GRCm39) A401T possibly damaging Het
Snupn T G 9: 56,864,389 (GRCm39) C29W probably benign Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sox17 A T 1: 4,562,075 (GRCm39) V310E probably damaging Het
Srgap1 T A 10: 121,691,382 (GRCm39) Y284F probably benign Het
Srpk1 C A 17: 28,818,748 (GRCm39) V363F probably benign Het
Syt13 T A 2: 92,773,387 (GRCm39) probably null Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tal1 A T 4: 114,925,813 (GRCm39) D294V probably damaging Het
Tbl2 A G 5: 135,188,246 (GRCm39) T347A probably benign Het
Tet3 A G 6: 83,381,434 (GRCm39) S110P probably benign Het
Tmem132a A G 19: 10,835,938 (GRCm39) V864A probably damaging Het
Trak1 T C 9: 121,221,073 (GRCm39) I80T probably benign Het
Trappc6b G A 12: 59,097,064 (GRCm39) T86I probably damaging Het
Usf3 T A 16: 44,038,910 (GRCm39) I1130N probably damaging Het
Xirp2 T C 2: 67,340,231 (GRCm39) V824A possibly damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,936 (GRCm39) V685E probably damaging Het
Zp2 A T 7: 119,735,268 (GRCm39) D368E probably damaging Het
Other mutations in Arl5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Arl5b APN 2 15,074,746 (GRCm39) missense probably benign 0.03
IGL02374:Arl5b APN 2 15,073,003 (GRCm39) missense probably damaging 1.00
IGL03213:Arl5b APN 2 15,074,676 (GRCm39) missense probably damaging 1.00
IGL03396:Arl5b APN 2 15,079,915 (GRCm39) missense probably damaging 0.96
R0559:Arl5b UTSW 2 15,077,998 (GRCm39) missense probably damaging 1.00
R0959:Arl5b UTSW 2 15,077,942 (GRCm39) missense probably damaging 1.00
R1766:Arl5b UTSW 2 15,074,648 (GRCm39) missense probably benign 0.36
R2100:Arl5b UTSW 2 15,078,006 (GRCm39) missense probably benign 0.03
R2403:Arl5b UTSW 2 15,079,848 (GRCm39) missense probably damaging 1.00
R4272:Arl5b UTSW 2 15,077,990 (GRCm39) missense probably damaging 1.00
R6782:Arl5b UTSW 2 15,077,993 (GRCm39) missense probably damaging 0.98
R7423:Arl5b UTSW 2 15,072,983 (GRCm39) missense probably damaging 1.00
R7898:Arl5b UTSW 2 15,079,869 (GRCm39) missense probably damaging 0.99
R8528:Arl5b UTSW 2 15,078,138 (GRCm39) splice site probably null
R9036:Arl5b UTSW 2 15,073,012 (GRCm39) critical splice donor site probably null
Z1088:Arl5b UTSW 2 15,079,832 (GRCm39) missense probably benign 0.04
Predicted Primers
Posted On 2014-01-15