Incidental Mutation 'R2312:Rab3b'
ID 247331
Institutional Source Beutler Lab
Gene Symbol Rab3b
Ensembl Gene ENSMUSG00000003411
Gene Name RAB3B, member RAS oncogene family
Synonyms
MMRRC Submission 040311-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2312 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 108736267-108800521 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108747691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 63 (T63A)
Ref Sequence ENSEMBL: ENSMUSP00000102262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003502] [ENSMUST00000106650] [ENSMUST00000106651]
AlphaFold Q9CZT8
Predicted Effect probably damaging
Transcript: ENSMUST00000003502
AA Change: T63A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003502
Gene: ENSMUSG00000003411
AA Change: T63A

DomainStartEndE-ValueType
RAB 23 186 1.86e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106650
AA Change: T63A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102261
Gene: ENSMUSG00000003411
AA Change: T63A

DomainStartEndE-ValueType
RAB 23 186 1.86e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106651
AA Change: T63A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102262
Gene: ENSMUSG00000003411
AA Change: T63A

DomainStartEndE-ValueType
RAB 23 195 4.88e-91 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable with no apparent decrease in weight or fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Fbln1 T C 15: 85,147,549 (GRCm39) V598A probably benign Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Ptgdr A C 14: 45,096,619 (GRCm39) L31R probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rhobtb1 C A 10: 69,106,293 (GRCm39) S286* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rmnd1 A T 10: 4,377,466 (GRCm39) M71K probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Spaca3 A T 11: 80,754,037 (GRCm39) Y58F possibly damaging Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Ttc14 A G 3: 33,861,984 (GRCm39) probably null Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E possibly damaging Het
Other mutations in Rab3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Rab3b APN 4 108,797,999 (GRCm39) missense probably damaging 1.00
IGL01612:Rab3b APN 4 108,781,223 (GRCm39) critical splice donor site probably null
IGL01636:Rab3b APN 4 108,797,916 (GRCm39) missense possibly damaging 0.55
IGL01777:Rab3b APN 4 108,786,607 (GRCm39) missense probably damaging 1.00
R0601:Rab3b UTSW 4 108,747,586 (GRCm39) missense probably damaging 1.00
R1884:Rab3b UTSW 4 108,786,649 (GRCm39) missense probably damaging 1.00
R2302:Rab3b UTSW 4 108,786,640 (GRCm39) missense probably damaging 0.99
R8744:Rab3b UTSW 4 108,781,184 (GRCm39) missense probably damaging 0.99
R8893:Rab3b UTSW 4 108,797,925 (GRCm39) missense probably benign 0.19
R9145:Rab3b UTSW 4 108,797,903 (GRCm39) missense probably benign 0.00
R9572:Rab3b UTSW 4 108,786,725 (GRCm39) critical splice donor site probably null
X0024:Rab3b UTSW 4 108,747,505 (GRCm39) start codon destroyed probably null 0.98
Predicted Primers PCR Primer
(F):5'- GGAGGTCACTAAGTCACAGCAG -3'
(R):5'- CACTCCTCTGAAACAGCATTG -3'

Sequencing Primer
(F):5'- ACCACAGGTCTCTCTTACAGATGG -3'
(R):5'- TGATATCTGATGCTGTAAGACACGG -3'
Posted On 2014-11-11