Incidental Mutation 'R6491:Trappc3'
ID 522857
Institutional Source Beutler Lab
Gene Symbol Trappc3
Ensembl Gene ENSMUSG00000028847
Gene Name trafficking protein particle complex 3
Synonyms 1110058K12Rik, Bet3
MMRRC Submission 044623-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6491 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 126156198-126169676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126169022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 171 (I171V)
Ref Sequence ENSEMBL: ENSMUSP00000030660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030660]
AlphaFold O55013
PDB Structure THE CRYSTAL STRUCTURE OF MOUSE BET3P [X-RAY DIFFRACTION]
The crystal structure of truncated mouse bet3p. [X-RAY DIFFRACTION]
THE CRYSTAL STRUCTURE OF THE BET3-TRS31 HETERODIMER. [X-RAY DIFFRACTION]
THE CRYSTAL STRUCTURE OF THE BET3-TRS33-BET5-TRS23 COMPLEX. [X-RAY DIFFRACTION]
The crystal structure of the bet3-trs31-sedlin complex. [X-RAY DIFFRACTION]
Crystal structure of BET3 homolog (13277653) from Mus musculus at 2.04 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000030660
AA Change: I171V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030660
Gene: ENSMUSG00000028847
AA Change: I171V

DomainStartEndE-ValueType
Pfam:TRAPP 19 166 1.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126786
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,612,508 (GRCm39) L431P probably damaging Het
Acad10 A C 5: 121,768,220 (GRCm39) W779G probably damaging Het
Acrbp A G 6: 125,028,442 (GRCm39) probably benign Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
Ap2a1 A T 7: 44,565,588 (GRCm39) I93K probably damaging Het
Arnt T A 3: 95,383,454 (GRCm39) M240K probably damaging Het
Ceacam12 A T 7: 17,803,185 (GRCm39) K197M probably damaging Het
Cep41 T C 6: 30,656,483 (GRCm39) N323S probably benign Het
Dst A G 1: 34,232,093 (GRCm39) T2904A probably benign Het
Eml1 G A 12: 108,479,330 (GRCm39) probably null Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Irf2bpl A G 12: 86,930,238 (GRCm39) V145A probably benign Het
Itga2b T C 11: 102,350,695 (GRCm39) probably null Het
Itga8 T C 2: 12,209,587 (GRCm39) D466G probably damaging Het
Kdm4c G T 4: 74,291,873 (GRCm39) C830F probably damaging Het
Mrps27 T C 13: 99,499,538 (GRCm39) S73P probably damaging Het
Mtdh T G 15: 34,116,473 (GRCm39) N17K probably damaging Het
Muc3a A G 5: 137,246,591 (GRCm39) S9P probably benign Het
Or8b46 A G 9: 38,558,751 (GRCm39) L23P probably damaging Het
Oxgr1 T A 14: 120,259,419 (GRCm39) I263F probably benign Het
Phc1 A G 6: 122,311,923 (GRCm39) Het
Ppp2r5d A G 17: 46,996,509 (GRCm39) F388S probably damaging Het
Pxmp4 A G 2: 154,434,083 (GRCm39) probably null Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror1 A G 4: 100,267,109 (GRCm39) N270S possibly damaging Het
Slc7a14 T C 3: 31,278,093 (GRCm39) Y504C probably damaging Het
Snx9 A G 17: 5,970,437 (GRCm39) D391G probably benign Het
St18 T A 1: 6,898,209 (GRCm39) Y670* probably null Het
Tjp1 A T 7: 64,986,865 (GRCm39) F207I possibly damaging Het
Ugt2b5 A T 5: 87,273,328 (GRCm39) L446* probably null Het
Vmn2r105 A T 17: 20,447,992 (GRCm39) Y277* probably null Het
Vmn2r11 A T 5: 109,196,800 (GRCm39) N557K possibly damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp938 A G 10: 82,063,363 (GRCm39) *65Q probably null Het
Other mutations in Trappc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0276:Trappc3 UTSW 4 126,167,745 (GRCm39) missense possibly damaging 0.52
R1104:Trappc3 UTSW 4 126,166,759 (GRCm39) splice site probably benign
R4548:Trappc3 UTSW 4 126,166,544 (GRCm39) missense possibly damaging 0.58
R5847:Trappc3 UTSW 4 126,167,771 (GRCm39) missense probably damaging 1.00
R6057:Trappc3 UTSW 4 126,167,834 (GRCm39) missense probably damaging 1.00
R6264:Trappc3 UTSW 4 126,167,731 (GRCm39) missense probably damaging 0.99
R7087:Trappc3 UTSW 4 126,166,474 (GRCm39) missense probably benign 0.35
R7109:Trappc3 UTSW 4 126,167,726 (GRCm39) missense probably benign 0.15
R7199:Trappc3 UTSW 4 126,168,945 (GRCm39) missense possibly damaging 0.83
R7223:Trappc3 UTSW 4 126,168,945 (GRCm39) missense possibly damaging 0.83
R7944:Trappc3 UTSW 4 126,168,999 (GRCm39) missense probably damaging 0.97
R9717:Trappc3 UTSW 4 126,169,014 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TTTAGCTGCTCGCGCACA -3'
(R):5'- CTCTATTAGCATGGAGGATGGAAATAA -3'

Sequencing Primer
(F):5'- CCCTCTCTCCTTCCCTCCTC -3'
(R):5'- GCATGGAGGATGGAAATAAGGTTAG -3'
Posted On 2018-06-06