Incidental Mutation 'R6782:Arl5b'
ID 531445
Institutional Source Beutler Lab
Gene Symbol Arl5b
Ensembl Gene ENSMUSG00000017418
Gene Name ADP-ribosylation factor-like 5B
Synonyms Arl8, 4930587A11Rik
MMRRC Submission 044896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6782 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 15060066-15087267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15077993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 106 (E106G)
Ref Sequence ENSEMBL: ENSMUSP00000069725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]
AlphaFold Q9D4P0
Predicted Effect possibly damaging
Transcript: ENSMUST00000017562
AA Change: E97G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: E97G

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000069870
AA Change: E106G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: E106G

DomainStartEndE-ValueType
ARF 2 180 3.95e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128682
Predicted Effect probably benign
Transcript: ENSMUST00000129509
Predicted Effect probably benign
Transcript: ENSMUST00000193836
Predicted Effect probably benign
Transcript: ENSMUST00000193883
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,847,308 (GRCm39) A724V probably damaging Het
Abcc3 A T 11: 94,249,776 (GRCm39) F1055L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Ankrd17 T C 5: 90,402,597 (GRCm39) K1488R possibly damaging Het
Ano1 G A 7: 144,175,424 (GRCm39) T498I probably damaging Het
Arhgap42 T A 9: 9,115,721 (GRCm39) K118N probably damaging Het
Atp5mc3 C T 2: 73,739,672 (GRCm39) R56Q probably benign Het
Bbx T C 16: 50,020,928 (GRCm39) R749G probably benign Het
Cacna1g A G 11: 94,350,376 (GRCm39) S490P probably damaging Het
Ccdc63 A T 5: 122,249,077 (GRCm39) Y417* probably null Het
Cep162 A T 9: 87,093,737 (GRCm39) N880K probably benign Het
Chd2 G A 7: 73,125,127 (GRCm39) Q77* probably null Het
Cntrl T G 2: 35,060,658 (GRCm39) M1397R possibly damaging Het
Dcaf7 A G 11: 105,945,581 (GRCm39) Y310C probably damaging Het
Dnah5 T A 15: 28,449,302 (GRCm39) S4235T possibly damaging Het
Dot1l C T 10: 80,625,224 (GRCm39) P1157L probably damaging Het
Esco2 T C 14: 66,057,465 (GRCm39) T577A probably benign Het
Foxp1 T C 6: 98,907,106 (GRCm39) D624G probably damaging Het
Gfi1 A T 5: 107,873,819 (GRCm39) probably null Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm5113 G A 7: 29,878,178 (GRCm39) V89I probably benign Het
Gtf3c2 A C 5: 31,327,180 (GRCm39) L382R probably benign Het
H3c2 T C 13: 23,936,393 (GRCm39) S11P probably benign Het
Hhip T C 8: 80,778,233 (GRCm39) N99S probably damaging Het
Htr5b T C 1: 121,438,227 (GRCm39) I335V probably benign Het
Ifi206 A G 1: 173,308,923 (GRCm39) S358P unknown Het
Loxhd1 T A 18: 77,518,873 (GRCm39) V1893D probably damaging Het
Mical2 A G 7: 111,945,968 (GRCm39) R11G probably damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Npr1 T C 3: 90,363,560 (GRCm39) N821S probably benign Het
Or4g16 A G 2: 111,137,090 (GRCm39) D180G probably damaging Het
Or52a24 A G 7: 103,381,549 (GRCm39) T139A possibly damaging Het
Or5p63 T C 7: 107,811,670 (GRCm39) D22G probably benign Het
Or5p70 T G 7: 107,994,744 (GRCm39) M139R probably damaging Het
Pi4ka T A 16: 17,143,852 (GRCm39) D739V probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Ptprd T C 4: 76,243,377 (GRCm39) probably null Het
Ralgapb G A 2: 158,278,486 (GRCm39) G5R probably damaging Het
Ric8b T C 10: 84,783,391 (GRCm39) V83A probably damaging Het
Sdc2 C A 15: 33,028,281 (GRCm39) T133K probably damaging Het
Slc12a7 T A 13: 73,947,088 (GRCm39) V592D probably damaging Het
Sorcs1 G T 19: 50,164,560 (GRCm39) Y990* probably null Het
Spata13 G T 14: 60,928,912 (GRCm39) G157W probably damaging Het
Tada1 A G 1: 166,217,541 (GRCm39) N226S probably benign Het
Tenm3 A G 8: 49,099,291 (GRCm39) probably null Het
Tll1 A G 8: 64,524,315 (GRCm39) V457A probably benign Het
Tmem232 T C 17: 65,807,119 (GRCm39) K25E possibly damaging Het
Tnrc18 T C 5: 142,773,063 (GRCm39) S406G unknown Het
Ush2a A G 1: 188,089,031 (GRCm39) M329V probably benign Het
Vmn2r107 T C 17: 20,577,141 (GRCm39) S380P probably damaging Het
Vmn2r73 A G 7: 85,519,563 (GRCm39) M465T probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp217 T C 2: 169,958,178 (GRCm39) D463G probably damaging Het
Zfp345 T C 2: 150,315,274 (GRCm39) S88G probably damaging Het
Zfp975 A C 7: 42,311,454 (GRCm39) N386K probably benign 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
R1160:Arl5b UTSW 2 15,074,648 (GRCm39) missense probably benign 0.36
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
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 PCR Primer
(F):5'- TACGTGCTCGCTGATGGAAAG -3'
(R):5'- GTTGTAGCAAGCAAATTAACAGGC -3'

Sequencing Primer
(F):5'- AAGGCAGTGAGGTTCTGTAGC -3'
(R):5'- CAAGCAAATTAACAGGCTTGAAG -3'
Posted On 2018-08-29