Incidental Mutation 'R8451:Arl2bp'
ID 654766
Institutional Source Beutler Lab
Gene Symbol Arl2bp
Ensembl Gene ENSMUSG00000031776
Gene Name ADP-ribosylation factor-like 2 binding protein
Synonyms Bart1, BART, 1700027H16Rik, 1700010P10Rik
MMRRC Submission 067887-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8451 (G1)
Quality Score 214.009
Status Validated
Chromosome 8
Chromosomal Location 95393228-95401053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95393507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 6 (E6K)
Ref Sequence ENSEMBL: ENSMUSP00000034228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034228] [ENSMUST00000109527] [ENSMUST00000211858]
AlphaFold Q9D385
Predicted Effect unknown
Transcript: ENSMUST00000034228
AA Change: E6K
SMART Domains Protein: ENSMUSP00000034228
Gene: ENSMUSG00000031776
AA Change: E6K

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 20 134 3.8e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109527
SMART Domains Protein: ENSMUSP00000105153
Gene: ENSMUSG00000031776

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 5 125 1e-33 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000211858
AA Change: E6K
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Acss3 T C 10: 106,885,265 (GRCm39) H242R probably damaging Het
Ago2 G T 15: 73,002,739 (GRCm39) D164E probably damaging Het
Bola1 G A 3: 96,104,573 (GRCm39) A7V probably benign Het
Ccdc18 A G 5: 108,303,663 (GRCm39) E249G probably damaging Het
Cep162 G A 9: 87,074,903 (GRCm39) Q1360* probably null Het
Cep350 T C 1: 155,747,780 (GRCm39) I2047V probably damaging Het
Cntnap5c C T 17: 58,362,687 (GRCm39) R347W probably damaging Het
Eif4a3l1 T A 6: 136,305,542 (GRCm39) M1K probably null Het
Fmo6 C T 1: 162,748,174 (GRCm39) V297M probably damaging Het
Furin C T 7: 80,048,470 (GRCm39) V17M probably benign Het
Hs6st1 A G 1: 36,108,141 (GRCm39) T135A probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klk1 A G 7: 43,878,410 (GRCm39) E190G probably benign Het
Map3k21 T C 8: 126,671,472 (GRCm39) L920P probably benign Het
Mecom T A 3: 30,039,519 (GRCm39) H180L probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Nrxn3 A G 12: 89,477,413 (GRCm39) D532G probably damaging Het
Nufip2 A G 11: 77,583,181 (GRCm39) N365S probably damaging Het
Or12j2 T C 7: 139,916,518 (GRCm39) Y248H probably damaging Het
Or4f47 A T 2: 111,972,406 (GRCm39) M39L probably benign Het
Or6b2 T C 1: 92,407,660 (GRCm39) I228V probably benign Het
Pgbd1 A T 13: 21,607,550 (GRCm39) S215T probably benign Het
Ptcd3 A G 6: 71,885,625 (GRCm39) C34R probably benign Het
S100a7l2 A T 3: 90,995,671 (GRCm39) M77K probably benign Het
Samd4 A G 14: 47,338,888 (GRCm39) D703G probably damaging Het
Scaper A T 9: 55,724,088 (GRCm39) N623K possibly damaging Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Slc12a9 T C 5: 137,326,710 (GRCm39) D249G probably benign Het
Slc3a1 A G 17: 85,335,924 (GRCm39) N22S possibly damaging Het
Sugct A G 13: 17,427,143 (GRCm39) L339P probably damaging Het
Tenm3 T C 8: 48,740,907 (GRCm39) D1192G probably damaging Het
Tinagl1 T A 4: 130,061,376 (GRCm39) D289V probably damaging Het
Tnrc6b C A 15: 80,807,691 (GRCm39) P1548T probably damaging Het
Trmt1l A G 1: 151,324,039 (GRCm39) K152E unknown Het
Vmn1r173 T A 7: 23,401,957 (GRCm39) L64* probably null Het
Zcchc2 T A 1: 105,958,662 (GRCm39) N1044K probably damaging Het
Zfp750 T C 11: 121,404,135 (GRCm39) I247V probably benign Het
Other mutations in Arl2bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4031:Arl2bp UTSW 8 95,394,281 (GRCm39) missense probably damaging 1.00
R4955:Arl2bp UTSW 8 95,397,056 (GRCm39) critical splice donor site probably null
R7071:Arl2bp UTSW 8 95,393,794 (GRCm39) intron probably benign
R8351:Arl2bp UTSW 8 95,393,507 (GRCm39) missense unknown
R9462:Arl2bp UTSW 8 95,398,755 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAACCTGAGGCTGTGATTGG -3'
(R):5'- ATGGAAGCGCTGGTTATCTG -3'

Sequencing Primer
(F):5'- ATTGGCTGCTGGAACCG -3'
(R):5'- ATCTGTGACATATGCCCGTG -3'
Posted On 2020-10-20