Incidental Mutation 'R4548:Trappc3'
ID 333858
Institutional Source Beutler Lab
Gene Symbol Trappc3
Ensembl Gene ENSMUSG00000028847
Gene Name trafficking protein particle complex 3
Synonyms 1110058K12Rik, Bet3
MMRRC Submission 041594-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R4548 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126156198-126169676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126166544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 39 (D39G)
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 possibly damaging
Transcript: ENSMUST00000030660
AA Change: D39G

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030660
Gene: ENSMUSG00000028847
AA Change: D39G

DomainStartEndE-ValueType
Pfam:TRAPP 19 166 1.2e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126786
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,553,245 (GRCm39) F155L possibly damaging Het
Adcy6 A G 15: 98,496,540 (GRCm39) I545T probably damaging Het
Afg2a T A 3: 37,486,176 (GRCm39) N299K probably benign Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Anln T C 9: 22,274,184 (GRCm39) D551G possibly damaging Het
Arhgef17 T C 7: 100,580,336 (GRCm39) Q204R possibly damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bcl2l11 A G 2: 127,971,566 (GRCm39) E75G probably benign Het
Cfap45 A G 1: 172,372,675 (GRCm39) I457V probably benign Het
Cfap65 G A 1: 74,946,771 (GRCm39) T1313I probably damaging Het
Cntln C A 4: 85,015,079 (GRCm39) H1123Q probably benign Het
Cops3 C T 11: 59,718,671 (GRCm39) probably null Het
Dis3l2 A T 1: 86,977,393 (GRCm39) T861S probably benign Het
Dnajc11 A G 4: 152,058,074 (GRCm39) N281S possibly damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Fras1 A G 5: 96,857,754 (GRCm39) D2016G probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Greb1 T C 12: 16,749,676 (GRCm39) D1050G probably damaging Het
Kcnh6 T C 11: 105,899,875 (GRCm39) F48S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Mrm2 T C 5: 140,314,251 (GRCm39) T195A probably benign Het
Myzap T C 9: 71,457,528 (GRCm39) E289G possibly damaging Het
Nemp1 A G 10: 127,532,213 (GRCm39) E373G probably benign Het
Or13c7 T A 4: 43,854,834 (GRCm39) I175N probably damaging Het
Or8h10 T C 2: 86,809,014 (GRCm39) N42S probably damaging Het
Polr1c A T 17: 46,558,735 (GRCm39) probably null Het
Rev1 A G 1: 38,098,275 (GRCm39) M756T possibly damaging Het
Sacs A G 14: 61,429,387 (GRCm39) D482G probably damaging Het
Sfrp4 A G 13: 19,807,936 (GRCm39) M112V possibly damaging Het
Slc7a4 T C 16: 17,393,209 (GRCm39) T197A probably benign Het
Snx27 C T 3: 94,433,746 (GRCm39) probably benign Het
Speer2 T C 16: 69,655,737 (GRCm39) K30E probably damaging Het
Ssh2 G A 11: 77,341,010 (GRCm39) A721T probably benign Het
Ttc28 G A 5: 111,419,090 (GRCm39) S1362N possibly damaging Het
Ugt2b35 A T 5: 87,156,134 (GRCm39) K409* probably null Het
Vmn2r92 A T 17: 18,391,578 (GRCm39) M527L probably benign Het
Zbed5 T A 5: 129,931,692 (GRCm39) L547* 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
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
R6491:Trappc3 UTSW 4 126,169,022 (GRCm39) missense probably benign 0.00
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'- CAGAGGCATCTAGGTGGCTTTC -3'
(R):5'- TCAGAGAACAGGCCATTTCAAG -3'

Sequencing Primer
(F):5'- AGGTGGCTTTCCCTGGAATCC -3'
(R):5'- GGCCATTTCAAGGTCAAAACG -3'
Posted On 2015-08-18