Incidental Mutation 'R4031:Arl2bp'
ID 313495
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 040960-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4031 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95393228-95401053 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95394281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 32 (I32T)
Ref Sequence ENSEMBL: ENSMUSP00000148695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034228] [ENSMUST00000109527] [ENSMUST00000211858]
AlphaFold Q9D385
Predicted Effect probably damaging
Transcript: ENSMUST00000034228
AA Change: I32T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034228
Gene: ENSMUSG00000031776
AA Change: I32T

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 20 134 3.8e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109527
AA Change: I21T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105153
Gene: ENSMUSG00000031776
AA Change: I21T

DomainStartEndE-ValueType
Pfam:ARL2_Bind_BART 5 125 1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000211858
AA Change: I32T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212877
Meta Mutation Damage Score 0.7343 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 95% (52/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 G T 8: 87,244,077 (GRCm39) F1025L probably damaging Het
Acss2 C T 2: 155,399,130 (GRCm39) T477I probably damaging Het
Aplp2 G A 9: 31,069,026 (GRCm39) P601L probably benign Het
Avpi1 C A 19: 42,113,180 (GRCm39) probably benign Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Ccdc150 T A 1: 54,317,970 (GRCm39) M303K probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Copa T C 1: 171,935,942 (GRCm39) V428A probably damaging Het
Crybb3 A G 5: 113,227,735 (GRCm39) Y29H probably damaging Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Disp2 T C 2: 118,622,361 (GRCm39) I1031T probably benign Het
Elf1 A C 14: 79,806,723 (GRCm39) K161Q probably damaging Het
Fndc1 A T 17: 7,988,584 (GRCm39) Y1159* probably null Het
Hspa12a T C 19: 58,789,289 (GRCm39) N449S probably benign Het
Hyal4 A G 6: 24,756,223 (GRCm39) E147G probably damaging Het
Hydin T C 8: 111,336,679 (GRCm39) I5152T probably benign Het
Ighv9-1 C T 12: 114,057,844 (GRCm39) A19T probably benign Het
Kcnt1 T G 2: 25,806,060 (GRCm39) S1216R possibly damaging Het
Kdm5d T A Y: 916,910 (GRCm39) V435E probably damaging Het
Klhl30 G A 1: 91,288,879 (GRCm39) R546H probably benign Het
Lrp1b C T 2: 40,592,860 (GRCm39) G3753D probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Macf1 A G 4: 123,275,105 (GRCm39) L6303P probably damaging Het
Mblac2 T C 13: 81,898,208 (GRCm39) S195P possibly damaging Het
Mindy3 A C 2: 12,405,894 (GRCm39) probably null Het
Neurod1 C T 2: 79,284,370 (GRCm39) D338N probably benign Het
Polr1e A T 4: 45,018,685 (GRCm39) E5V probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Ppp2r2a T C 14: 67,266,425 (GRCm39) S79G probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rap1gds1 T C 3: 138,756,353 (GRCm39) probably benign Het
Rsph10b A G 5: 143,922,486 (GRCm39) probably null Het
Slc26a10 A G 10: 127,013,871 (GRCm39) V297A possibly damaging Het
Slc26a5 T C 5: 22,052,189 (GRCm39) K47E probably damaging Het
Slurp1 T C 15: 74,599,336 (GRCm39) E58G probably damaging Het
Spo11 T A 2: 172,828,625 (GRCm39) probably benign Het
Tm9sf4 T C 2: 153,040,264 (GRCm39) probably benign Het
Trak1 T C 9: 121,280,736 (GRCm39) I272T probably damaging Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Unc79 T A 12: 103,039,018 (GRCm39) S671T possibly damaging Het
Usp43 G T 11: 67,804,659 (GRCm39) A186D probably damaging Het
Vmn2r107 G A 17: 20,595,483 (GRCm39) V679I probably benign Het
Vsig10l C T 7: 43,114,798 (GRCm39) A333V probably damaging Het
Vwa3a G A 7: 120,367,455 (GRCm39) probably null Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Wnk1 T C 6: 119,928,029 (GRCm39) T1141A probably damaging Het
Zfp236 T A 18: 82,642,590 (GRCm39) E1052V probably damaging Het
Zfp317 A T 9: 19,558,008 (GRCm39) H163L possibly damaging Het
Zfp975 G A 7: 42,312,377 (GRCm39) Q79* probably null Het
Other mutations in Arl2bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- CTGAGTGATGGGAGGATCATC -3'
(R):5'- GCATGCCCTTATAAGCAGAGG -3'

Sequencing Primer
(F):5'- TTTATGCACGTTGGGAATCTTAC -3'
(R):5'- AAAGTTGTCCTCTGAGCTCCACATAG -3'
Posted On 2015-04-30