Incidental Mutation 'R4169:Rabl2'
ID 320714
Institutional Source Beutler Lab
Gene Symbol Rabl2
Ensembl Gene ENSMUSG00000022621
Gene Name RAB, member RAS oncogene family-like 2
Synonyms Rabl2a, 1110031N17Rik
MMRRC Submission 041010-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4169 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 89466736-89476126 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to C at 89474582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000129253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023294] [ENSMUST00000094056] [ENSMUST00000169466] [ENSMUST00000170126] [ENSMUST00000171580] [ENSMUST00000172053]
AlphaFold E9Q9D5
Predicted Effect probably null
Transcript: ENSMUST00000023294
AA Change: M1V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023294
Gene: ENSMUSG00000022621
AA Change: M1V

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 null
Transcript: ENSMUST00000094056
AA Change: M1V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091598
Gene: ENSMUSG00000022621
AA Change: M1V

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 null
Transcript: ENSMUST00000169466
AA Change: M1V
SMART Domains Protein: ENSMUSP00000129660
Gene: ENSMUSG00000022621
AA Change: M1V

DomainStartEndE-ValueType
SCOP:d1ek0a_ 21 53 8e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000170126
AA Change: M1V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126182
Gene: ENSMUSG00000022621
AA Change: M1V

DomainStartEndE-ValueType
Pfam:Ras 23 74 1.2e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171580
AA Change: M1V
SMART Domains Protein: ENSMUSP00000128799
Gene: ENSMUSG00000022621
AA Change: M1V

DomainStartEndE-ValueType
SCOP:d1ek0a_ 21 38 7e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000172053
AA Change: M1V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129253
Gene: ENSMUSG00000022621
AA Change: M1V

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 noncoding transcript
Transcript: ENSMUST00000171142
Meta Mutation Damage Score 0.8009 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (48/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 T C 4: 152,302,250 (GRCm39) C121R probably damaging Het
Ampd1 T A 3: 103,002,157 (GRCm39) M546K probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Btn1a1 A G 13: 23,649,325 (GRCm39) L9P probably benign Het
Cmip A T 8: 118,183,656 (GRCm39) N743I probably damaging Het
Col4a2 C T 8: 11,479,391 (GRCm39) P758L probably benign Het
Ddx50 A T 10: 62,476,549 (GRCm39) Y241* probably null Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Fbn1 T C 2: 125,205,872 (GRCm39) T1042A possibly damaging Het
Gm5445 A G 13: 12,393,527 (GRCm39) noncoding transcript Het
Gnat3 T C 5: 18,208,862 (GRCm39) F189L probably damaging Het
Hectd1 T C 12: 51,837,008 (GRCm39) T815A probably damaging Het
Hmcn1 A C 1: 150,471,750 (GRCm39) probably null Het
Hrc A G 7: 44,986,181 (GRCm39) D444G probably benign Het
Ighv1-53 T A 12: 115,122,166 (GRCm39) I70F possibly damaging Het
Kat7 A G 11: 95,171,298 (GRCm39) F469L probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Krt81 T A 15: 101,359,193 (GRCm39) M242L probably benign Het
Krtap6-1 A G 16: 88,828,584 (GRCm39) probably null Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mthfr-ps1 T C 5: 78,622,436 (GRCm39) noncoding transcript Het
Nop53 A T 7: 15,676,244 (GRCm39) W152R probably benign Het
Or5p58 A T 7: 107,694,591 (GRCm39) M62K probably damaging Het
Or6y1 T A 1: 174,277,162 (GRCm39) S324R unknown Het
Or8s8 A G 15: 98,354,878 (GRCm39) E229G probably benign Het
Pcdh1 A T 18: 38,331,358 (GRCm39) N548K probably damaging Het
Pcdhga12 A G 18: 37,899,467 (GRCm39) I100V probably benign Het
Piezo2 T C 18: 63,183,675 (GRCm39) H1743R probably benign Het
Pkdrej A G 15: 85,700,515 (GRCm39) V1807A probably benign Het
Rexo5 A G 7: 119,426,621 (GRCm39) probably benign Het
Rfng C G 11: 120,674,772 (GRCm39) G73R probably benign Het
Rps6ka4 A G 19: 6,809,188 (GRCm39) L459P possibly damaging Het
Samd11 T A 4: 156,332,203 (GRCm39) D536V probably damaging Het
Slc9a5 A G 8: 106,084,032 (GRCm39) T451A possibly damaging Het
Snapc1 T A 12: 74,029,265 (GRCm39) N349K probably benign Het
Sox1ot A G 8: 12,480,544 (GRCm39) noncoding transcript Het
Tmem178 C T 17: 81,252,232 (GRCm39) H39Y possibly damaging Het
Trav8n-2 A T 14: 53,583,875 (GRCm39) T111S possibly damaging Het
Ttn T A 2: 76,703,103 (GRCm39) probably benign Het
Ttn T C 2: 76,762,909 (GRCm39) D3250G probably damaging Het
Ube2nl T A 7: 61,199,380 (GRCm39) noncoding transcript Het
Vps25 T C 11: 101,144,918 (GRCm39) S39P probably damaging Het
Zkscan14 G A 5: 145,132,985 (GRCm39) T182I possibly damaging Het
Other mutations in Rabl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Rabl2 APN 15 89,474,473 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGAGGACCTTTCTCATCCAC -3'
(R):5'- CTCTGCAATGAGAAATGTCAGGAG -3'

Sequencing Primer
(F):5'- GACCTTTCTCATCCACCCAGGG -3'
(R):5'- CAGAGATAGAGCTCCCAGGC -3'
Posted On 2015-06-12