Incidental Mutation 'R2086:Rab7'
ID 229989
Institutional Source Beutler Lab
Gene Symbol Rab7
Ensembl Gene ENSMUSG00000079477
Gene Name RAB7, member RAS oncogene family
Synonyms
MMRRC Submission 040091-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R2086 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 87976088-88022252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 87989300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 57 (V57I)
Ref Sequence ENSEMBL: ENSMUSP00000145097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095048] [ENSMUST00000113596] [ENSMUST00000113597] [ENSMUST00000113598] [ENSMUST00000113600] [ENSMUST00000203674] [ENSMUST00000204126]
AlphaFold P51150
Predicted Effect probably benign
Transcript: ENSMUST00000095048
AA Change: V57I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000092658
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113596
AA Change: V57I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109226
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113597
AA Change: V57I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109227
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113598
AA Change: V57I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109228
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113600
AA Change: V57I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000109230
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
RAB 9 176 9.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203674
AA Change: V57I

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000145215
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
small_GTPase 6 87 3.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204126
AA Change: V57I

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000145097
Gene: ENSMUSG00000079477
AA Change: V57I

DomainStartEndE-ValueType
small_GTPase 6 99 6.6e-6 SMART
Meta Mutation Damage Score 0.2555 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 124,917,767 (GRCm39) M53T unknown Het
Abcb11 T A 2: 69,089,820 (GRCm39) probably benign Het
Acap2 C G 16: 30,929,763 (GRCm39) A432P probably damaging Het
Adamtsl1 A G 4: 86,146,249 (GRCm39) R302G probably damaging Het
Aoc1l1 A G 6: 48,954,536 (GRCm39) E558G probably damaging Het
Ap2b1 T G 11: 83,241,944 (GRCm39) S608A possibly damaging Het
Atp13a3 T A 16: 30,171,116 (GRCm39) T310S possibly damaging Het
Atp6v1b1 T C 6: 83,734,834 (GRCm39) V382A probably benign Het
Atp6v1g1 T A 4: 63,468,304 (GRCm39) F102L probably benign Het
B430306N03Rik T A 17: 48,623,810 (GRCm39) V37D probably damaging Het
Cacna1d T C 14: 29,769,314 (GRCm39) Y1872C possibly damaging Het
Carf T A 1: 60,148,570 (GRCm39) Y54N probably damaging Het
Cct5 T C 15: 31,594,349 (GRCm39) E256G probably damaging Het
Cd5 A G 19: 10,700,620 (GRCm39) S295P probably benign Het
Cenpb T C 2: 131,020,517 (GRCm39) probably benign Het
Cntnap3 A G 13: 64,942,076 (GRCm39) M218T possibly damaging Het
Colec11 C T 12: 28,644,786 (GRCm39) R236H probably damaging Het
Crem T A 18: 3,288,098 (GRCm39) probably benign Het
Csnk2a1 A G 2: 152,096,201 (GRCm39) N58S probably benign Het
Cyp2a4 T G 7: 26,011,733 (GRCm39) M318R probably damaging Het
Dhrs1 T A 14: 55,981,116 (GRCm39) Q98L probably null Het
Dnah11 G T 12: 118,077,606 (GRCm39) Q1296K possibly damaging Het
Edc4 T A 8: 106,614,634 (GRCm39) D105E probably damaging Het
Eid2b C T 7: 27,977,198 (GRCm39) probably benign Het
Exoc1 A T 5: 76,680,693 (GRCm39) K28* probably null Het
Fam114a1 A G 5: 65,137,402 (GRCm39) D115G probably benign Het
Fam151a A T 4: 106,592,760 (GRCm39) probably null Het
Gc T C 5: 89,586,201 (GRCm39) Y313C probably damaging Het
Gdpd1 A G 11: 86,926,094 (GRCm39) Y284H probably benign Het
Gm21957 T A 7: 124,818,878 (GRCm39) noncoding transcript Het
Golm1 G A 13: 59,792,999 (GRCm39) Q169* probably null Het
Greb1l T C 18: 10,523,281 (GRCm39) V813A probably damaging Het
Itih1 C T 14: 30,659,800 (GRCm39) A279T probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama1 T C 17: 68,124,618 (GRCm39) C2893R probably damaging Het
Lama3 T A 18: 12,657,887 (GRCm39) N334K probably benign Het
Loxhd1 A G 18: 77,472,642 (GRCm39) D1053G probably damaging Het
Map3k20 A G 2: 72,228,729 (GRCm39) K316R probably benign Het
Mapre3 A C 5: 31,020,546 (GRCm39) probably null Het
Mgam T A 6: 40,737,962 (GRCm39) probably null Het
Mical2 A C 7: 111,917,810 (GRCm39) H389P probably benign Het
Mtmr2 A G 9: 13,711,248 (GRCm39) D347G probably damaging Het
Nbeal2 G A 9: 110,463,139 (GRCm39) L1309F probably benign Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nodal A T 10: 61,259,077 (GRCm39) E171D possibly damaging Het
Notch2 T C 3: 98,009,683 (GRCm39) S537P probably damaging Het
Obox6 A G 7: 15,567,532 (GRCm39) L305S probably damaging Het
Obscn T C 11: 58,969,082 (GRCm39) D2715G probably damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5g26 A C 2: 85,494,090 (GRCm39) S229R probably benign Het
Pcca T C 14: 122,923,527 (GRCm39) S404P probably damaging Het
Pcdh10 T C 3: 45,334,906 (GRCm39) S407P probably damaging Het
Plekha5 C A 6: 140,516,044 (GRCm39) probably null Het
Ptdss1 A G 13: 67,101,619 (GRCm39) N72S probably benign Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Pygm G A 19: 6,441,511 (GRCm39) probably null Het
Rasl10a A G 11: 5,009,431 (GRCm39) probably null Het
Rergl T C 6: 139,471,832 (GRCm39) T106A probably benign Het
Rnf17 T G 14: 56,720,837 (GRCm39) V1023G probably damaging Het
Rnf25 T A 1: 74,633,126 (GRCm39) R409W probably damaging Het
Rps6ka1 T C 4: 133,600,280 (GRCm39) M1V probably null Het
Rps6ka5 T C 12: 100,585,874 (GRCm39) T140A possibly damaging Het
Sbno2 T A 10: 79,893,690 (GRCm39) I1204F possibly damaging Het
Serpina16 A T 12: 103,641,521 (GRCm39) I68N probably damaging Het
Slc35a5 A G 16: 44,964,628 (GRCm39) S202P probably damaging Het
Slc35g3 G C 11: 69,651,772 (GRCm39) S93W probably damaging Het
Slc49a3 C T 5: 108,593,487 (GRCm39) R117H probably damaging Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Spag1 T C 15: 36,227,287 (GRCm39) L648P probably damaging Het
Tagap1 T C 17: 7,224,102 (GRCm39) D198G probably benign Het
Tedc2 T C 17: 24,436,874 (GRCm39) E287G probably damaging Het
Tjp1 C A 7: 64,962,669 (GRCm39) R1089S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Ttc38 T A 15: 85,722,928 (GRCm39) D125E probably benign Het
Uggt1 C T 1: 36,231,495 (GRCm39) R490Q probably null Het
Uroc1 T G 6: 90,321,096 (GRCm39) L224R probably damaging Het
Vmn1r228 A T 17: 20,997,455 (GRCm39) I21N possibly damaging Het
Vmn2r102 T G 17: 19,896,949 (GRCm39) L99V probably damaging Het
Vps13c C T 9: 67,857,571 (GRCm39) S2601F probably benign Het
Zfp462 T C 4: 55,010,830 (GRCm39) L932P probably damaging Het
Other mutations in Rab7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0242:Rab7 UTSW 6 87,982,114 (GRCm39) missense probably damaging 0.98
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
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 PCR Primer
(F):5'- ACAGAAGGTGCTACCCAGAG -3'
(R):5'- AGGCATGTTGCTTTGAACATTG -3'

Sequencing Primer
(F):5'- AGAGGTGAAGTGCTCCGC -3'
(R):5'- TTGTAAACACAAATCCCTTTCAGTCC -3'
Posted On 2014-09-18