Incidental Mutation 'R0242:Rab7'
ID 66245
Institutional Source Beutler Lab
Gene Symbol Rab7
Ensembl Gene ENSMUSG00000079477
Gene Name RAB7, member RAS oncogene family
Synonyms
MMRRC Submission 038480-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R0242 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 87976088-88022252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87982114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 87 (V87E)
Ref Sequence ENSEMBL: ENSMUSP00000109230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095048] [ENSMUST00000113596] [ENSMUST00000113597] [ENSMUST00000113598] [ENSMUST00000113600] [ENSMUST00000204126] [ENSMUST00000203674]
AlphaFold P51150
Predicted Effect probably damaging
Transcript: ENSMUST00000095048
AA Change: V87E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: V87E

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113596
AA Change: V87E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: V87E

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113597
AA Change: V87E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: V87E

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113598
AA Change: V87E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: V87E

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113600
AA Change: V87E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: V87E

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153372
SMART Domains Protein: ENSMUSP00000122496
Gene: ENSMUSG00000084950

DomainStartEndE-ValueType
low complexity region 17 36 N/A INTRINSIC
low complexity region 47 59 N/A INTRINSIC
low complexity region 65 86 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204126
AA Change: V87E

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477
AA Change: V87E

DomainStartEndE-ValueType
small_GTPase 6 99 6.6e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203674
SMART Domains Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477

DomainStartEndE-ValueType
small_GTPase 6 87 3.5e-5 SMART
Meta Mutation Damage Score 0.9670 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.2%
  • 10x: 90.8%
  • 20x: 69.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted alleles exhibit abnormal endocytosis within the visceral endoderm, failure of elongation along the primitive streak and incomplete gastrulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T C 8: 13,601,676 (GRCm39) D230G probably benign Het
Abhd13 A G 8: 10,037,561 (GRCm39) I53V probably benign Het
Adgrl2 A C 3: 148,544,821 (GRCm39) probably null Het
Aldh16a1 G A 7: 44,794,088 (GRCm39) A596V probably damaging Het
Aldh3b2 T A 19: 4,029,414 (GRCm39) Y262* probably null Het
Ambn A G 5: 88,615,831 (GRCm39) Q420R possibly damaging Het
Arhgap9 C A 10: 127,165,407 (GRCm39) H430Q probably benign Het
Arhgef25 C T 10: 127,019,933 (GRCm39) G435E probably damaging Het
Armc12 A T 17: 28,751,366 (GRCm39) D120V possibly damaging Het
Asxl3 G A 18: 22,649,738 (GRCm39) E576K possibly damaging Het
Bcdin3d T C 15: 99,368,776 (GRCm39) E141G probably benign Het
Bmpr1b G A 3: 141,546,437 (GRCm39) T483M probably damaging Het
Caprin2 C T 6: 148,744,452 (GRCm39) S991N probably damaging Het
Cd96 T C 16: 45,892,129 (GRCm39) I286M possibly damaging Het
Cdcp1 G T 9: 123,009,237 (GRCm39) F480L probably benign Het
Celf5 T C 10: 81,300,243 (GRCm39) T258A probably benign Het
Clca3b A G 3: 144,547,226 (GRCm39) S304P probably benign Het
Cmya5 A T 13: 93,232,108 (GRCm39) H993Q probably benign Het
Cnbp A T 6: 87,822,746 (GRCm39) C6S probably damaging Het
Col14a1 C T 15: 55,360,907 (GRCm39) R1605W probably damaging Het
Cops7a T C 6: 124,941,817 (GRCm39) N11S probably benign Het
Cpvl T C 6: 53,909,485 (GRCm39) H217R possibly damaging Het
Cyp2c66 A G 19: 39,130,369 (GRCm39) Y68C probably damaging Het
Dicer1 G A 12: 104,668,710 (GRCm39) T1324M probably benign Het
Dlgap2 A G 8: 14,777,562 (GRCm39) D268G probably benign Het
Dnm1 T A 2: 32,207,001 (GRCm39) M535L possibly damaging Het
Dock7 A T 4: 98,850,517 (GRCm39) F1575Y probably benign Het
Dpp10 T A 1: 123,326,275 (GRCm39) H403L possibly damaging Het
Dync1h1 A G 12: 110,616,285 (GRCm39) D3112G possibly damaging Het
Eno3 A G 11: 70,548,761 (GRCm39) E21G probably null Het
Fam120b T A 17: 15,643,186 (GRCm39) V655D probably damaging Het
Fkbp5 A T 17: 28,647,426 (GRCm39) D136E probably benign Het
Gfer A G 17: 24,913,277 (GRCm39) W192R probably damaging Het
Golgb1 C T 16: 36,695,992 (GRCm39) Q164* probably null Het
Gpnmb A G 6: 49,024,276 (GRCm39) N197S probably damaging Het
Gtf2f1 G A 17: 57,310,802 (GRCm39) T414M probably benign Het
Helz2 C T 2: 180,872,223 (GRCm39) R2539Q probably damaging Het
Hsd17b12 T A 2: 93,988,160 (GRCm39) I19F probably benign Het
Incenp T C 19: 9,871,114 (GRCm39) T172A unknown Het
Jmy A G 13: 93,578,126 (GRCm39) Y681H probably benign Het
Kbtbd11 A G 8: 15,077,508 (GRCm39) T36A probably benign Het
Kcnh4 T C 11: 100,646,525 (GRCm39) D267G probably damaging Het
Krt40 T A 11: 99,429,568 (GRCm39) E335D probably damaging Het
Krt86 T A 15: 101,374,454 (GRCm39) Y282* probably null Het
Lgi3 C T 14: 70,772,255 (GRCm39) R267* probably null Het
Lrp1b T A 2: 40,888,195 (GRCm39) H2355L probably benign Het
Lrrc8e G A 8: 4,285,401 (GRCm39) R542H probably benign Het
Mast4 G A 13: 102,990,350 (GRCm39) S57F probably damaging Het
Mia2 T C 12: 59,155,642 (GRCm39) Y452H probably damaging Het
Mmachc C T 4: 116,561,738 (GRCm39) R132Q probably damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mtbp T A 15: 55,440,882 (GRCm39) N356K possibly damaging Het
Myo5b A G 18: 74,794,787 (GRCm39) H552R possibly damaging Het
Niban1 A G 1: 151,593,967 (GRCm39) D884G probably benign Het
Noxred1 A G 12: 87,273,753 (GRCm39) V96A probably benign Het
Nr1d2 T A 14: 18,211,933 (GRCm38) D390V possibly damaging Het
Odad2 A T 18: 7,211,516 (GRCm39) V786D probably damaging Het
Or1r1 T C 11: 73,874,538 (GRCm39) S299G probably benign Het
Or6c1b T A 10: 129,273,217 (GRCm39) Y179N probably damaging Het
Otog G T 7: 45,916,805 (GRCm39) C914F probably damaging Het
Pank2 G T 2: 131,122,117 (GRCm39) C214F probably damaging Het
Pcdhb1 T A 18: 37,399,788 (GRCm39) S580T probably benign Het
Pdia3 T C 2: 121,244,592 (GRCm39) S2P probably damaging Het
Peli1 G T 11: 21,092,602 (GRCm39) R83L probably damaging Het
Pla2g3 T A 11: 3,441,935 (GRCm39) C366* probably null Het
Pon3 T A 6: 5,240,860 (GRCm39) D107V probably benign Het
Ppip5k2 A G 1: 97,668,816 (GRCm39) C532R probably damaging Het
Psd3 A G 8: 68,210,738 (GRCm39) M270T probably damaging Het
Pus1 A T 5: 110,927,664 (GRCm39) H30Q probably benign Het
Pwwp3a T C 10: 80,070,092 (GRCm39) S354P probably benign Het
Reln A G 5: 22,147,595 (GRCm39) probably null Het
S1pr3 A G 13: 51,572,938 (GRCm39) T40A probably benign Het
Senp7 T A 16: 55,999,884 (GRCm39) I853N probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Shroom1 T G 11: 53,356,312 (GRCm39) probably null Het
Slc24a3 T C 2: 145,448,584 (GRCm39) I376T probably benign Het
Slc46a1 T C 11: 78,359,493 (GRCm39) I375T possibly damaging Het
Slc4a9 T C 18: 36,666,733 (GRCm39) F527S probably damaging Het
Slc4a9 T A 18: 36,674,286 (GRCm39) I924N probably damaging Het
Slx4 T A 16: 3,804,816 (GRCm39) E666V probably damaging Het
Sorcs1 C T 19: 50,216,659 (GRCm39) G640E probably damaging Het
Spmap2l G T 5: 77,164,152 (GRCm39) E52* probably null Het
Sptan1 A T 2: 29,908,413 (GRCm39) M1725L probably benign Het
Sync G A 4: 129,187,514 (GRCm39) R182K probably damaging Het
Syne2 G A 12: 76,144,808 (GRCm39) G1586S probably damaging Het
Sytl1 G T 4: 132,980,768 (GRCm39) T522K probably damaging Het
Tex2 T A 11: 106,410,781 (GRCm39) K414* probably null Het
Thsd7a G A 6: 12,503,915 (GRCm39) T413I probably benign Het
Tm9sf1 C T 14: 55,875,392 (GRCm39) A451T possibly damaging Het
Ttn A T 2: 76,656,496 (GRCm39) probably benign Het
Uba2 T C 7: 33,854,054 (GRCm39) I140V possibly damaging Het
Ushbp1 C A 8: 71,842,762 (GRCm39) G361* probably null Het
Wbp2nl C T 15: 82,197,988 (GRCm39) A175V probably benign Het
Zc3h12d A G 10: 7,738,330 (GRCm39) E212G probably damaging Het
Other mutations in Rab7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Rab7 UTSW 6 87,982,114 (GRCm39) missense probably damaging 0.98
R1029:Rab7 UTSW 6 87,990,624 (GRCm39) missense probably damaging 1.00
R2025:Rab7 UTSW 6 87,981,161 (GRCm39) missense probably damaging 1.00
R2086:Rab7 UTSW 6 87,989,300 (GRCm39) missense probably benign 0.08
R2177:Rab7 UTSW 6 87,982,063 (GRCm39) missense probably damaging 1.00
R5047:Rab7 UTSW 6 87,982,205 (GRCm39) splice site probably null
R5564:Rab7 UTSW 6 87,990,632 (GRCm39) missense probably damaging 1.00
R7491:Rab7 UTSW 6 87,990,624 (GRCm39) missense probably damaging 1.00
R8263:Rab7 UTSW 6 87,989,292 (GRCm39) missense probably benign 0.01
R8513:Rab7 UTSW 6 87,981,250 (GRCm39) missense probably benign 0.26
R8714:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8715:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8716:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8717:Rab7 UTSW 6 87,989,369 (GRCm39) missense probably damaging 0.99
R8980:Rab7 UTSW 6 87,977,502 (GRCm39) missense probably benign
R9642:Rab7 UTSW 6 87,981,187 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2013-08-19