Incidental Mutation 'R7944:Trappc3'
ID 649214
Institutional Source Beutler Lab
Gene Symbol Trappc3
Ensembl Gene ENSMUSG00000028847
Gene Name trafficking protein particle complex 3
Synonyms 1110058K12Rik, Bet3
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock # R7944 (G1)
Quality Score 160.009
Status Not validated
Chromosome 4
Chromosomal Location 126262325-126275883 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126275206 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 163 (I163T)
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 damaging
Transcript: ENSMUST00000030660
AA Change: I163T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030660
Gene: ENSMUSG00000028847
AA Change: I163T

DomainStartEndE-ValueType
Pfam:TRAPP 19 166 1.2e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T A 14: 49,773,213 T346S probably benign Het
Adprhl1 T A 8: 13,221,929 R1610W probably damaging Het
Aig1 A T 10: 13,868,673 M29K probably damaging Het
Alms1 A T 6: 85,641,380 I2334F probably benign Het
Ano6 A G 15: 95,941,309 Y423C probably damaging Het
Arap3 T C 18: 37,989,179 M619V probably benign Het
Asb13 T A 13: 3,649,413 F204L probably damaging Het
Btaf1 T C 19: 36,949,165 V79A probably benign Het
Casp8ap2 A G 4: 32,645,909 T1661A probably benign Het
Ccna1 G T 3: 55,050,589 T165K possibly damaging Het
Cdc42ep1 T A 15: 78,847,773 S139R possibly damaging Het
Chil3 A C 3: 106,150,148 Y233* probably null Het
Clec1a T C 6: 129,432,187 S159G probably benign Het
Cltc A T 11: 86,737,141 N60K probably benign Het
Dlgap4 T A 2: 156,749,134 Y747N probably damaging Het
Dnah7b A G 1: 46,227,003 N2244S probably benign Het
Ephb3 A G 16: 21,221,684 T811A probably damaging Het
Fbxo21 T C 5: 118,008,147 Y612H possibly damaging Het
Gale T C 4: 135,965,671 L75P probably damaging Het
Gm4969 T A 7: 19,100,086 K508N unknown Het
Golgb1 T C 16: 36,914,104 S1279P probably benign Het
Hdgfl3 T C 7: 81,933,958 Y22C possibly damaging Het
Hmx3 T G 7: 131,544,382 I273S probably damaging Het
Hpse2 T C 19: 43,384,809 N127S probably benign Het
Hsf2bp C T 17: 32,007,769 R204H probably damaging Het
Ifit1bl1 T A 19: 34,593,824 H411L probably benign Het
Krtap27-1 T C 16: 88,671,452 N68S probably benign Het
Ltbp1 T G 17: 75,390,551 *1713G probably null Het
Lypd6b A G 2: 49,943,600 E84G probably damaging Het
Mrgprx2 T C 7: 48,483,005 T22A probably benign Het
Mrto4 T C 4: 139,349,689 Y39C probably benign Het
Mtmr4 T C 11: 87,604,428 V437A probably damaging Het
Mylk4 T C 13: 32,727,113 T221A probably benign Het
Neb T C 2: 52,271,348 D2144G probably damaging Het
Nup210 T G 6: 91,073,197 D430A probably damaging Het
Obscn T A 11: 59,093,409 E1740V probably damaging Het
Olfr1104 A G 2: 87,022,313 V77A probably benign Het
Panx1 A G 9: 15,007,829 C245R probably damaging Het
Pcdha6 C A 18: 36,968,912 T386N possibly damaging Het
Pcsk1 G A 13: 75,132,092 A679T probably benign Het
Pdzph1 T C 17: 58,932,460 T958A probably damaging Het
Pkd2l2 T A 18: 34,427,428 Y363N possibly damaging Het
Plekha5 T A 6: 140,580,475 H946Q possibly damaging Het
Rhbg A G 3: 88,247,700 L168P probably benign Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Rtn2 T A 7: 19,287,062 S153R probably benign Het
Serpinb1a C A 13: 32,850,256 A51S probably benign Het
Serpinb6e T A 13: 33,832,605 T382S probably damaging Het
Sgip1 T G 4: 102,915,101 M229R probably benign Het
Slc1a5 C A 7: 16,789,882 R271S possibly damaging Het
Slc23a3 A G 1: 75,129,396 probably null Het
Slc7a6 C T 8: 106,179,607 P157L possibly damaging Het
Spsb1 T C 4: 149,906,446 I222V probably benign Het
Syne2 A T 12: 75,904,305 E410V probably damaging Het
Treh T C 9: 44,681,287 V63A probably damaging Het
Ttc6 T G 12: 57,660,443 L712R possibly damaging Het
Ttn G T 2: 76,884,965 Q7928K unknown Het
Tuft1 G A 3: 94,632,602 P159S probably benign Het
Vmn2r108 T C 17: 20,471,628 H211R probably damaging Het
Wapl T C 14: 34,677,148 I58T probably benign Het
Zfp78 C T 7: 6,378,590 T213I possibly damaging Het
Zmat4 T A 8: 23,748,420 I6N possibly damaging Het
Zp3r G T 1: 130,596,823 P226Q probably damaging Het
Other mutations in Trappc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0276:Trappc3 UTSW 4 126273952 missense possibly damaging 0.52
R1104:Trappc3 UTSW 4 126272966 splice site probably benign
R4548:Trappc3 UTSW 4 126272751 missense possibly damaging 0.58
R5847:Trappc3 UTSW 4 126273978 missense probably damaging 1.00
R6057:Trappc3 UTSW 4 126274041 missense probably damaging 1.00
R6264:Trappc3 UTSW 4 126273938 missense probably damaging 0.99
R6491:Trappc3 UTSW 4 126275229 missense probably benign 0.00
R7087:Trappc3 UTSW 4 126272681 missense probably benign 0.35
R7109:Trappc3 UTSW 4 126273933 missense probably benign 0.15
R7199:Trappc3 UTSW 4 126275152 missense possibly damaging 0.83
R7223:Trappc3 UTSW 4 126275152 missense possibly damaging 0.83
R9717:Trappc3 UTSW 4 126275221 missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATTTTAGCTGCTCGCGCACA -3'
(R):5'- TTAGCATGGAGGATGGAAATAAGGTT -3'

Sequencing Primer
(F):5'- CCCTCTCTCCTTCCCTCCTC -3'
(R):5'- TGGAGGATGGAAATAAGGTTAGAAG -3'
Posted On 2020-09-15