Incidental Mutation 'R1346:Rab3c'
ID 156516
Institutional Source Beutler Lab
Gene Symbol Rab3c
Ensembl Gene ENSMUSG00000021700
Gene Name RAB3C, member RAS oncogene family
Synonyms 3110015B08Rik, 3110037E15Rik, 2700062I01Rik
MMRRC Submission 039411-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1346 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 110190721-110417530 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110397120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 49 (R49C)
Ref Sequence ENSEMBL: ENSMUSP00000153136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167824] [ENSMUST00000223922] [ENSMUST00000224180]
AlphaFold P62823
Predicted Effect probably damaging
Transcript: ENSMUST00000167824
AA Change: R49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132945
Gene: ENSMUSG00000021700
AA Change: R49C

DomainStartEndE-ValueType
RAB 31 194 1.35e-93 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223922
AA Change: R47C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224180
AA Change: R49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224287
Meta Mutation Damage Score 0.9522 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 90.1%
Validation Efficiency 98% (43/44)
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 RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C A 14: 32,382,771 (GRCm39) A1065S probably benign Het
Ak5 G T 3: 152,239,071 (GRCm39) D301E probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Arap3 A T 18: 38,108,971 (GRCm39) C1228S probably damaging Het
Arfgef1 T C 1: 10,229,958 (GRCm39) T1248A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Bdp1 G A 13: 100,215,263 (GRCm39) Q374* probably null Het
Cacng6 G T 7: 3,483,438 (GRCm39) W255C possibly damaging Het
Camta2 T C 11: 70,567,293 (GRCm39) K628R possibly damaging Het
Catsperg1 A T 7: 28,881,759 (GRCm39) probably null Het
Cers4 A G 8: 4,565,632 (GRCm39) E26G probably damaging Het
Chfr A G 5: 110,288,313 (GRCm39) D76G probably damaging Het
Chrng C A 1: 87,135,985 (GRCm39) Q245K probably benign Het
Cnn2 T C 10: 79,829,414 (GRCm39) probably benign Het
Dyrk2 T C 10: 118,695,624 (GRCm39) K545E possibly damaging Het
Eif3d A G 15: 77,852,754 (GRCm39) I9T probably damaging Het
Elovl7 A G 13: 108,410,883 (GRCm39) I153V probably benign Het
Etl4 T C 2: 20,810,955 (GRCm39) S1013P possibly damaging Het
Furin C T 7: 80,041,932 (GRCm39) probably benign Het
Gart G T 16: 91,425,070 (GRCm39) probably null Het
Gm572 G A 4: 148,739,354 (GRCm39) V61M possibly damaging Het
Hspbap1 G A 16: 35,622,035 (GRCm39) A127T probably damaging Het
Kcnh2 T C 5: 24,527,658 (GRCm39) D898G possibly damaging Het
Kcnrg A G 14: 61,849,144 (GRCm39) T202A probably benign Het
Lhx1 T C 11: 84,412,905 (GRCm39) E36G possibly damaging Het
Lrp1 T C 10: 127,441,735 (GRCm39) N167S probably damaging Het
Parp9 A T 16: 35,777,267 (GRCm39) M171L probably benign Het
Pla2g4e G A 2: 120,013,253 (GRCm39) R356W probably damaging Het
Ppp4c C T 7: 126,391,222 (GRCm39) probably benign Het
Rbm25 T C 12: 83,691,167 (GRCm39) probably benign Het
Sema4g T A 19: 44,986,091 (GRCm39) S311T possibly damaging Het
Skida1 T C 2: 18,053,090 (GRCm39) I21V possibly damaging Het
Slc25a32 T A 15: 38,963,411 (GRCm39) I137F probably benign Het
Stard9 T C 2: 120,543,929 (GRCm39) V4409A probably damaging Het
Stx2 G A 5: 129,065,852 (GRCm39) probably benign Het
Timeless C T 10: 128,078,234 (GRCm39) T248M possibly damaging Het
Tlr2 T A 3: 83,743,900 (GRCm39) N728Y probably damaging Het
Zfp592 A T 7: 80,687,812 (GRCm39) N913Y possibly damaging Het
Other mutations in Rab3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1294:Rab3c UTSW 13 110,397,099 (GRCm39) missense possibly damaging 0.72
R1819:Rab3c UTSW 13 110,220,669 (GRCm39) missense possibly damaging 0.52
R1903:Rab3c UTSW 13 110,220,744 (GRCm39) missense probably damaging 1.00
R2059:Rab3c UTSW 13 110,397,050 (GRCm39) missense probably damaging 1.00
R4018:Rab3c UTSW 13 110,220,728 (GRCm39) missense probably damaging 1.00
R4707:Rab3c UTSW 13 110,198,434 (GRCm39) missense probably benign 0.00
R4784:Rab3c UTSW 13 110,198,434 (GRCm39) missense probably benign 0.00
R4785:Rab3c UTSW 13 110,198,434 (GRCm39) missense probably benign 0.00
R5305:Rab3c UTSW 13 110,317,611 (GRCm39) missense probably damaging 1.00
R5358:Rab3c UTSW 13 110,198,497 (GRCm39) missense possibly damaging 0.77
R8136:Rab3c UTSW 13 110,317,554 (GRCm39) nonsense probably null
R8739:Rab3c UTSW 13 110,397,135 (GRCm39) missense probably damaging 0.98
Z1177:Rab3c UTSW 13 110,397,020 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCAAGGAAGAGCCGCACTCTC -3'
(R):5'- TCTGGCAAGGGCAATAATGAGTCTG -3'

Sequencing Primer
(F):5'- CAAACACAGGAGCTTGGATTTC -3'
(R):5'- GAGTCTGCTTCAATATCAAATGGG -3'
Posted On 2014-02-11