Incidental Mutation 'R2100:Arl5b'
ID 230404
Institutional Source Beutler Lab
Gene Symbol Arl5b
Ensembl Gene ENSMUSG00000017418
Gene Name ADP-ribosylation factor-like 5B
Synonyms Arl8, 4930587A11Rik
MMRRC Submission 040104-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R2100 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 15060066-15087267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15078006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 101 (M101I)
Ref Sequence ENSEMBL: ENSMUSP00000017562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]
AlphaFold Q9D4P0
Predicted Effect probably benign
Transcript: ENSMUST00000017562
AA Change: M101I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: M101I

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069870
AA Change: M110I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: M110I

DomainStartEndE-ValueType
ARF 2 180 3.95e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128682
Predicted Effect probably benign
Transcript: ENSMUST00000129509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192653
Predicted Effect probably benign
Transcript: ENSMUST00000193836
Predicted Effect probably benign
Transcript: ENSMUST00000193883
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 C T 17: 24,627,183 (GRCm39) R1295W probably damaging Het
Abca8b A T 11: 109,828,608 (GRCm39) I1430N probably damaging Het
Abcb1a A G 5: 8,763,202 (GRCm39) T577A probably damaging Het
C1qbp T A 11: 70,868,928 (GRCm39) N278I probably benign Het
Cdh1 A T 8: 107,386,300 (GRCm39) T408S possibly damaging Het
Cfap54 T A 10: 92,837,799 (GRCm39) I1034F possibly damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Chil4 T C 3: 106,121,663 (GRCm39) K62R probably benign Het
Crebl2 A G 6: 134,828,166 (GRCm39) T113A probably benign Het
Cyp2c69 C A 19: 39,875,130 (GRCm39) V8L probably benign Het
Dpp6 A G 5: 27,869,742 (GRCm39) R447G probably damaging Het
Efcab6 A T 15: 83,777,168 (GRCm39) probably null Het
Emilin1 T G 5: 31,075,241 (GRCm39) V494G probably benign Het
Enoph1 A G 5: 100,211,645 (GRCm39) I181V probably null Het
F3 T C 3: 121,526,082 (GRCm39) V215A possibly damaging Het
Fads2b T C 2: 85,330,593 (GRCm39) N238S probably damaging Het
Fat3 G T 9: 16,288,726 (GRCm39) H266N possibly damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Garnl3 T C 2: 32,936,657 (GRCm39) T171A probably benign Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Impg2 A G 16: 56,051,748 (GRCm39) probably null Het
Kctd6 T C 14: 8,222,239 (GRCm38) L27P possibly damaging Het
Kmt2d G T 15: 98,744,361 (GRCm39) probably benign Het
Kremen1 AGGCGG AGGCGGCGG 11: 5,151,788 (GRCm39) probably benign Het
Lrig2 A G 3: 104,418,946 (GRCm39) L21P possibly damaging Het
Macf1 G A 4: 123,291,699 (GRCm39) Q3284* probably null Het
Mnt A G 11: 74,722,177 (GRCm39) E8G probably damaging Het
Nbeal1 A G 1: 60,344,430 (GRCm39) probably null Het
Nid2 C T 14: 19,828,946 (GRCm39) Q331* probably null Het
Nlrx1 A G 9: 44,173,905 (GRCm39) L432P probably damaging Het
Nop2 T A 6: 125,117,785 (GRCm39) D445E probably damaging Het
Nup62 T C 7: 44,478,921 (GRCm39) probably benign Het
Oas2 A G 5: 120,883,740 (GRCm39) probably null Het
Or5b121 A G 19: 13,507,798 (GRCm39) I298V probably benign Het
Or5p1 A T 7: 107,916,761 (GRCm39) Y220F probably benign Het
Or5w10 T A 2: 87,375,169 (GRCm39) T240S probably damaging Het
Or8k40 A T 2: 86,584,905 (GRCm39) M59K possibly damaging Het
Or9i14 A G 19: 13,792,600 (GRCm39) M118T possibly damaging Het
P3h3 T A 6: 124,822,005 (GRCm39) T623S probably damaging Het
Pkp3 T C 7: 140,663,205 (GRCm39) V350A probably damaging Het
Plekha3 T A 2: 76,523,007 (GRCm39) I225N probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf213 A T 11: 119,358,128 (GRCm39) K4292* probably null Het
Rtkn T C 6: 83,126,541 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Snx10 T C 6: 51,565,395 (GRCm39) Y171H probably damaging Het
Stx12 A T 4: 132,587,913 (GRCm39) I173N possibly damaging Het
Thrb T A 14: 18,030,393 (GRCm38) M379K possibly damaging Het
Tmem132e T A 11: 82,335,357 (GRCm39) V813E probably damaging Het
Tnfsf12 T C 11: 69,578,175 (GRCm39) E134G probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpbgl T A 7: 99,275,651 (GRCm39) I69F possibly damaging Het
Ythdc1 T A 5: 86,964,544 (GRCm39) S130T possibly damaging Het
Zbp1 A G 2: 173,051,037 (GRCm39) S278P probably damaging Het
Zfp30 A G 7: 29,492,951 (GRCm39) T483A probably benign Het
Zfp322a G A 13: 23,541,460 (GRCm39) S94L possibly damaging Het
Zfp646 T G 7: 127,481,359 (GRCm39) Y1179D 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
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
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 PCR Primer
(F):5'- TTACGTGCTCGCTGATGGAAAG -3'
(R):5'- AGTTGTAGCAAGCAAATTAACAGGC -3'

Sequencing Primer
(F):5'- AAGGCAGTGAGGTTCTGTAGC -3'
(R):5'- CAAGCAAATTAACAGGCTTGAAG -3'
Posted On 2014-09-18