Incidental Mutation 'IGL00901:Rabl2'
ID 29030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rabl2
Ensembl Gene ENSMUSG00000022621
Gene Name RAB, member RAS oncogene family-like 2
Synonyms Rabl2a, 1110031N17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00901
Quality Score
Status
Chromosome 15
Chromosomal Location 89466736-89476126 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 89474473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023294] [ENSMUST00000094056] [ENSMUST00000169466] [ENSMUST00000170126] [ENSMUST00000172053] [ENSMUST00000171580]
AlphaFold E9Q9D5
Predicted Effect probably benign
Transcript: ENSMUST00000023294
SMART Domains Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621

DomainStartEndE-ValueType
Pfam:Arf 10 196 2.3e-12 PFAM
Pfam:MMR_HSR1 23 134 1.4e-6 PFAM
Pfam:Roc 23 137 2e-35 PFAM
Pfam:Gtr1_RagA 23 171 9e-8 PFAM
Pfam:Ras 23 180 3.8e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094056
SMART Domains Protein: ENSMUSP00000091598
Gene: ENSMUSG00000022621

DomainStartEndE-ValueType
Blast:RAB 50 94 4e-10 BLAST
SCOP:d3raba_ 57 91 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165747
Predicted Effect probably benign
Transcript: ENSMUST00000169466
SMART Domains Protein: ENSMUSP00000129660
Gene: ENSMUSG00000022621

DomainStartEndE-ValueType
SCOP:d1ek0a_ 21 53 8e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170126
SMART Domains Protein: ENSMUSP00000126182
Gene: ENSMUSG00000022621

DomainStartEndE-ValueType
Pfam:Ras 23 74 1.2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171142
Predicted Effect probably benign
Transcript: ENSMUST00000172053
SMART Domains Protein: ENSMUSP00000129253
Gene: ENSMUSG00000022621

DomainStartEndE-ValueType
Pfam:Arf 10 100 6.5e-9 PFAM
Pfam:Miro 23 102 1.7e-11 PFAM
Pfam:Ras 23 102 4.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171580
SMART Domains Protein: ENSMUSP00000128799
Gene: ENSMUSG00000022621

DomainStartEndE-ValueType
SCOP:d1ek0a_ 21 38 7e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility, reduced testis weight, oligospermia, asthenozoospermia and short flagellum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A G 12: 84,153,250 (GRCm39) Y164C probably benign Het
Anpep A G 7: 79,489,171 (GRCm39) S334P probably benign Het
Arhgef1 A G 7: 24,612,118 (GRCm39) E129G probably damaging Het
Bmt2 G T 6: 13,628,748 (GRCm39) H312N probably damaging Het
Brme1 A G 8: 84,893,400 (GRCm39) D189G probably damaging Het
Ces2g A G 8: 105,691,761 (GRCm39) Y272C probably benign Het
Cfap69 T A 5: 5,669,162 (GRCm39) probably benign Het
Cftr T C 6: 18,268,429 (GRCm39) probably null Het
Clec2g A G 6: 128,925,655 (GRCm39) probably benign Het
Cyp2b9 A T 7: 25,897,930 (GRCm39) I245F probably damaging Het
Fbxo6 T A 4: 148,230,600 (GRCm39) I221F probably damaging Het
Fbxw21 A C 9: 108,985,467 (GRCm39) C104G probably benign Het
Flna A G X: 73,273,534 (GRCm39) S101P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift88 T A 14: 57,681,902 (GRCm39) F229I probably damaging Het
Map2k3 T C 11: 60,832,747 (GRCm39) S31P probably benign Het
Mia2 A G 12: 59,154,815 (GRCm39) D176G probably damaging Het
Or12d2 T G 17: 37,624,598 (GRCm39) K226Q possibly damaging Het
Or12e10 A G 2: 87,640,992 (GRCm39) Y276C probably damaging Het
Or14j6 T A 17: 38,215,148 (GRCm39) V237D probably damaging Het
Pde7b C T 10: 20,494,875 (GRCm39) probably null Het
Polr3b T C 10: 84,467,660 (GRCm39) I80T possibly damaging Het
Prpf4b T A 13: 35,078,465 (GRCm39) Y692N probably damaging Het
Rasgrp1 T C 2: 117,115,611 (GRCm39) K659R probably damaging Het
Ryr3 A T 2: 112,716,934 (GRCm39) S774T probably damaging Het
Sema5b C T 16: 35,471,685 (GRCm39) T426M probably damaging Het
Serpinb10 A G 1: 107,468,726 (GRCm39) K123R probably benign Het
Slc33a1 T C 3: 63,871,433 (GRCm39) D60G probably benign Het
Tnks A T 8: 35,305,549 (GRCm39) Y92* probably null Het
Tvp23b T A 11: 62,774,606 (GRCm39) probably benign Het
Wnk1 T A 6: 119,937,669 (GRCm39) Q1218L probably damaging Het
Other mutations in Rabl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Rabl2 APN 15 89,467,615 (GRCm39) missense probably benign 0.05
IGL02317:Rabl2 APN 15 89,468,492 (GRCm39) missense probably damaging 1.00
R0335:Rabl2 UTSW 15 89,468,169 (GRCm39) missense probably damaging 1.00
R4169:Rabl2 UTSW 15 89,474,582 (GRCm39) start codon destroyed probably null 0.98
R4276:Rabl2 UTSW 15 89,468,391 (GRCm39) intron probably benign
R4330:Rabl2 UTSW 15 89,471,137 (GRCm39) missense probably benign 0.09
R5657:Rabl2 UTSW 15 89,472,416 (GRCm39) missense probably benign 0.00
R6242:Rabl2 UTSW 15 89,468,555 (GRCm39) missense probably benign
R9445:Rabl2 UTSW 15 89,468,148 (GRCm39) missense probably damaging 1.00
R9513:Rabl2 UTSW 15 89,474,631 (GRCm39) critical splice acceptor site probably null
R9516:Rabl2 UTSW 15 89,474,631 (GRCm39) critical splice acceptor site probably null
X0023:Rabl2 UTSW 15 89,468,183 (GRCm39) missense probably damaging 0.97
Posted On 2013-04-17