Incidental Mutation 'R7071:Arl2bp'
ID 548908
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 045167-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7071 (G1)
Quality Score 223.009
Status Validated
Chromosome 8
Chromosomal Location 95393228-95401053 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to T at 95393794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034228] [ENSMUST00000109527] [ENSMUST00000211858]
AlphaFold Q9D385
Predicted Effect probably benign
Transcript: ENSMUST00000034228
SMART Domains Protein: ENSMUSP00000034228
Gene: ENSMUSG00000031776

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 probably benign
Transcript: ENSMUST00000211858
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 95% (41/43)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,449,503 (GRCm39) Q854* probably null Het
Astl T C 2: 127,187,885 (GRCm39) M121T probably benign Het
Atrip T C 9: 108,896,082 (GRCm39) probably null Het
Camk1g A T 1: 193,042,117 (GRCm39) V44E probably benign Het
Cc2d2a A G 5: 43,866,455 (GRCm39) H804R probably benign Het
Cd300a T C 11: 114,792,099 (GRCm39) S314P probably damaging Het
Ceacam5 A T 7: 17,484,577 (GRCm39) I440L possibly damaging Het
Cfap61 T G 2: 145,843,832 (GRCm39) I306R probably benign Het
Cnot10 T C 9: 114,446,787 (GRCm39) probably null Het
Cntln T A 4: 85,018,622 (GRCm39) L76Q probably damaging Het
Cobl A G 11: 12,204,795 (GRCm39) C636R probably benign Het
Dnm3 A T 1: 161,847,412 (GRCm39) H148Q probably damaging Het
Dot1l T A 10: 80,628,079 (GRCm39) L1039Q probably benign Het
Faiml T A 9: 99,118,400 (GRCm39) M1L unknown Het
Fat1 T G 8: 45,442,145 (GRCm39) I1149S possibly damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm11938 A T 11: 99,493,910 (GRCm39) C62S probably damaging Het
Gtf2i A G 5: 134,292,475 (GRCm39) L423S probably damaging Het
Hmcn1 A T 1: 150,479,853 (GRCm39) C4582S probably damaging Het
Ifitm3 A G 7: 140,590,437 (GRCm39) V41A probably benign Het
Ipo11 T A 13: 107,061,604 (GRCm39) S19C probably damaging Het
Khsrp C A 17: 57,332,386 (GRCm39) M268I possibly damaging Het
Lrp1b T G 2: 41,298,276 (GRCm39) D1036A Het
Mecom T G 3: 30,034,857 (GRCm39) H273P probably damaging Het
Mfn1 G A 3: 32,622,544 (GRCm39) V601I probably benign Het
Mrps5 T A 2: 127,442,772 (GRCm39) Y280* probably null Het
Myo18a A G 11: 77,714,653 (GRCm39) T811A probably damaging Het
Ndfip2 A C 14: 105,539,760 (GRCm39) N292H possibly damaging Het
Or2ak5 C A 11: 58,610,984 (GRCm39) V297F possibly damaging Het
Otog T A 7: 45,916,747 (GRCm39) C895S probably damaging Het
Pacs1 A T 19: 5,206,402 (GRCm39) I261N possibly damaging Het
Pira13 A G 7: 3,824,667 (GRCm39) S573P unknown Het
Ptprn A T 1: 75,237,263 (GRCm39) M113K possibly damaging Het
Rag1 T C 2: 101,473,807 (GRCm39) H445R probably damaging Het
Ranbp2 T G 10: 58,328,659 (GRCm39) F2853V probably damaging Het
Skint5 A T 4: 113,636,277 (GRCm39) F647Y unknown Het
Stt3b T C 9: 115,083,085 (GRCm39) Y449C probably damaging Het
Ythdc2 A G 18: 44,978,855 (GRCm39) D455G probably benign Het
Zfp451 A C 1: 33,815,825 (GRCm39) D708E possibly damaging Het
Zfp456 T C 13: 67,520,896 (GRCm39) E33G probably damaging Het
Zfp599 T C 9: 22,169,392 (GRCm39) T27A 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
R8351:Arl2bp UTSW 8 95,393,507 (GRCm39) missense unknown
R8451: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'- TTGTAAGTGAAGCGGCCAG -3'
(R):5'- TCGTGACGAAAACCGGTATGAC -3'

Sequencing Primer
(F):5'- ACGTCCTCTGGGTTGCG -3'
(R):5'- GTGACGAAAACCGGTATGACAATCAC -3'
Posted On 2019-05-15