Incidental Mutation 'R1627:Rab2a'
ID 172545
Institutional Source Beutler Lab
Gene Symbol Rab2a
Ensembl Gene ENSMUSG00000047187
Gene Name RAB2A, member RAS oncogene family
Synonyms 9330148M11Rik, Rab2
MMRRC Submission 039664-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1627 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 8535661-8607708 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8578481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 94 (F94L)
Ref Sequence ENSEMBL: ENSMUSP00000057664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060232]
AlphaFold P53994
Predicted Effect probably damaging
Transcript: ENSMUST00000060232
AA Change: F94L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057664
Gene: ENSMUSG00000047187
AA Change: F94L

DomainStartEndE-ValueType
RAB 7 170 1e-110 SMART
low complexity region 195 210 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,083,880 (GRCm39) M630T probably benign Het
Anpep T C 7: 79,491,759 (GRCm39) I81V probably benign Het
Bub1 A G 2: 127,650,933 (GRCm39) S627P probably benign Het
C1s1 T A 6: 124,514,439 (GRCm39) N139I probably damaging Het
Car6 A T 4: 150,277,035 (GRCm39) V152D probably damaging Het
Cdh19 C A 1: 110,847,375 (GRCm39) M411I probably benign Het
Cep95 A G 11: 106,700,531 (GRCm39) E322G probably damaging Het
Chek1 C A 9: 36,625,737 (GRCm39) V303L probably benign Het
Dctn1 T A 6: 83,172,064 (GRCm39) I818N probably damaging Het
Dscaml1 T C 9: 45,664,445 (GRCm39) S2107P probably damaging Het
Dusp14 A G 11: 83,939,597 (GRCm39) I148T probably damaging Het
Eps15 A G 4: 109,227,754 (GRCm39) D645G probably damaging Het
Etl4 A G 2: 20,806,390 (GRCm39) N1153S possibly damaging Het
Fer1l6 A G 15: 58,513,728 (GRCm39) D1541G probably benign Het
Gm14496 A G 2: 181,640,571 (GRCm39) S513G probably damaging Het
H2-D1 G T 17: 35,482,471 (GRCm39) A64S possibly damaging Het
Hsd17b2 T A 8: 118,428,909 (GRCm39) F59I possibly damaging Het
Itgb7 T G 15: 102,131,911 (GRCm39) Q224P probably damaging Het
Jak1 A G 4: 101,048,821 (GRCm39) probably null Het
Kdm1b G A 13: 47,217,707 (GRCm39) probably null Het
Lrp8 A G 4: 107,711,613 (GRCm39) I466V probably damaging Het
Mga A G 2: 119,795,043 (GRCm39) D2909G probably damaging Het
Nol8 T C 13: 49,814,980 (GRCm39) S345P probably benign Het
Nup210l T C 3: 90,051,476 (GRCm39) M540T probably benign Het
Obscn C T 11: 59,003,464 (GRCm39) R1370H probably benign Het
Or2ad1 A G 13: 21,327,125 (GRCm39) F34S probably damaging Het
Pbx3 A G 2: 34,065,965 (GRCm39) V375A probably benign Het
Ppp1r9a T C 6: 4,906,168 (GRCm39) V241A possibly damaging Het
Psmd6 C T 14: 14,112,539 (GRCm38) V354M probably damaging Het
Rev1 T C 1: 38,094,571 (GRCm39) D949G probably damaging Het
Ric8a A G 7: 140,438,091 (GRCm39) D110G probably damaging Het
Rlf A T 4: 121,007,197 (GRCm39) D594E probably benign Het
Septin1 C A 7: 126,817,230 (GRCm39) probably null Het
Slco5a1 G C 1: 13,060,607 (GRCm39) P38R probably damaging Het
Snx33 C A 9: 56,833,241 (GRCm39) R276L probably damaging Het
Taf11 A T 17: 28,124,253 (GRCm39) D101E probably benign Het
Ttn A G 2: 76,764,564 (GRCm39) S3168P probably damaging Het
Uggt2 T C 14: 119,295,075 (GRCm39) E41G possibly damaging Het
Vmn2r80 A G 10: 79,030,249 (GRCm39) R692G probably damaging Het
Zfp763 A T 17: 33,240,758 (GRCm39) W24R probably damaging Het
Other mutations in Rab2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01549:Rab2a APN 4 8,582,393 (GRCm39) missense probably benign 0.02
IGL02420:Rab2a APN 4 8,572,553 (GRCm39) missense possibly damaging 0.91
IGL03226:Rab2a APN 4 8,606,448 (GRCm39) missense probably benign
R0331:Rab2a UTSW 4 8,572,559 (GRCm39) missense probably benign
R5194:Rab2a UTSW 4 8,604,381 (GRCm39) missense probably benign 0.09
R8017:Rab2a UTSW 4 8,604,444 (GRCm39) critical splice donor site probably null
R9508:Rab2a UTSW 4 8,582,447 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTTTTCAGCTCAGTACCAGGAGACTA -3'
(R):5'- CTTAAGTCAGTAGCGACATTGCTCACT -3'

Sequencing Primer
(F):5'- ATAAGTGCCCTGGATTGACC -3'
(R):5'- GCGACATTGCTCACTTATATTAATGC -3'
Posted On 2014-04-24