Incidental Mutation 'R7087:Trappc3'
ID 549947
Institutional Source Beutler Lab
Gene Symbol Trappc3
Ensembl Gene ENSMUSG00000028847
Gene Name trafficking protein particle complex 3
Synonyms 1110058K12Rik, Bet3
MMRRC Submission 045181-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R7087 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 126156198-126169676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126166474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 16 (S16P)
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: S16P

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030660
Gene: ENSMUSG00000028847
AA Change: S16P

DomainStartEndE-ValueType
Pfam:TRAPP 19 166 1.2e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 T A 7: 119,373,870 (GRCm39) V252D probably damaging Het
Adprhl1 A G 8: 13,271,856 (GRCm39) L1634P probably damaging Het
Arhgef4 A T 1: 34,850,767 (GRCm39) R438W probably damaging Het
Asb3 A C 11: 30,948,321 (GRCm39) K38T probably benign Het
Atp1a4 A T 1: 172,074,269 (GRCm39) L328Q probably damaging Het
BC030500 T A 8: 59,365,388 (GRCm39) I13N unknown Het
Cbarp A G 10: 79,972,242 (GRCm39) S136P probably damaging Het
Ccdc18 T A 5: 108,343,988 (GRCm39) D910E probably benign Het
Cenpo C T 12: 4,265,307 (GRCm39) E238K probably benign Het
Cmya5 A G 13: 93,227,483 (GRCm39) V2535A probably benign Het
Ddx39b C T 17: 35,472,025 (GRCm39) R355C probably damaging Het
Dock10 T C 1: 80,570,543 (GRCm39) T338A probably benign Het
Dpysl3 T C 18: 43,496,595 (GRCm39) D147G probably damaging Het
Eif3i G T 4: 129,486,104 (GRCm39) H284Q probably damaging Het
Erbb4 A T 1: 68,779,650 (GRCm39) L42Q probably null Het
Exoc3l2 A G 7: 19,203,582 (GRCm39) E58G Het
Fgf18 C T 11: 33,074,677 (GRCm39) R98Q probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gp2 T A 7: 119,049,455 (GRCm39) T361S probably damaging Het
Gtsf1 A T 15: 103,333,876 (GRCm39) H33Q probably damaging Het
Hoxa4 G A 6: 52,168,271 (GRCm39) T133M probably damaging Het
Hspb7 C A 4: 141,149,866 (GRCm39) T84K possibly damaging Het
Kcnq4 C T 4: 120,561,596 (GRCm39) R491H probably damaging Het
Kdm7a C T 6: 39,152,315 (GRCm39) R127H probably benign Het
Lsm10 C T 4: 125,991,952 (GRCm39) R103C probably damaging Het
Mgme1 T C 2: 144,114,101 (GRCm39) S68P probably damaging Het
Nes G T 3: 87,887,065 (GRCm39) V1775L probably benign Het
Nfrkb C T 9: 31,331,228 (GRCm39) Q1250* probably null Het
Or4s2 T C 2: 88,473,197 (GRCm39) F29L probably damaging Het
Phf21b A T 15: 84,676,033 (GRCm39) L338H probably damaging Het
Pira12 G A 7: 3,900,218 (GRCm39) A128V probably benign Het
Ppp2r5b A G 19: 6,282,580 (GRCm39) V190A possibly damaging Het
Prmt1 T C 7: 44,631,007 (GRCm39) probably null Het
Rusc1 A G 3: 88,996,799 (GRCm39) V639A probably damaging Het
Slc24a2 T A 4: 86,909,456 (GRCm39) probably null Het
Slc39a10 T C 1: 46,874,880 (GRCm39) T141A probably damaging Het
Spta1 A T 1: 174,002,076 (GRCm39) M69L probably benign Het
St8sia5 A C 18: 77,342,238 (GRCm39) Q316P possibly damaging Het
Svs3a T C 2: 164,131,717 (GRCm39) I96T possibly damaging Het
Syne1 T A 10: 5,492,024 (GRCm39) probably benign Het
Vmn2r44 A T 7: 8,381,366 (GRCm39) F176I probably benign Het
Wnk1 C T 6: 120,014,491 (GRCm39) E35K possibly damaging Het
Zfp354c A G 11: 50,706,040 (GRCm39) L345P probably damaging Het
Zfp608 T A 18: 55,032,469 (GRCm39) K490N probably damaging Het
Zfp687 A C 3: 94,917,524 (GRCm39) S709A probably benign 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
R6491:Trappc3 UTSW 4 126,169,022 (GRCm39) missense probably benign 0.00
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'- TGAAGTGCCTGATGTGCCATC -3'
(R):5'- CCTCATAAGTGTACCCCAAGTG -3'

Sequencing Primer
(F):5'- CATCTATGGCCAGTTCACAGTGG -3'
(R):5'- AGTGTACCCCAAGTGTTAGC -3'
Posted On 2019-05-15