Incidental Mutation 'IGL01388:Trappc2'
ID 79130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc2
Ensembl Gene ENSMUSG00000079317
Gene Name trafficking protein particle complex 2
Synonyms Sedl, 1110066L09Rik, 1810064C02Rik, TRS20, MIP-2A
Accession Numbers
Essential gene? Not available question?
Stock # IGL01388
Quality Score
Status
Chromosome X
Chromosomal Location 165223747-165236136 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 165232775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112192] [ENSMUST00000112194] [ENSMUST00000116495]
AlphaFold Q9CQP2
Predicted Effect probably benign
Transcript: ENSMUST00000112192
SMART Domains Protein: ENSMUSP00000107811
Gene: ENSMUSG00000079317

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 71 6.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112194
SMART Domains Protein: ENSMUSP00000107813
Gene: ENSMUSG00000079317

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 136 1.7e-51 PFAM
Pfam:Sybindin 46 137 8.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116495
SMART Domains Protein: ENSMUSP00000112195
Gene: ENSMUSG00000079317

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 136 1.6e-52 PFAM
Pfam:Sybindin 46 137 9e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154573
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 T G 17: 68,160,034 (GRCm39) probably benign Het
Ces2b A C 8: 105,561,236 (GRCm39) probably benign Het
Col20a1 T A 2: 180,645,264 (GRCm39) M924K probably benign Het
Commd4 G A 9: 57,063,273 (GRCm39) probably benign Het
Ctnna3 A G 10: 63,339,886 (GRCm39) E24G possibly damaging Het
Cyp2a22 C T 7: 26,637,217 (GRCm39) R189H probably benign Het
Gapdhrt T C 14: 11,281,836 (GRCm38) D33G probably damaging Het
Gm20426 T C 6: 90,155,694 (GRCm39) probably benign Het
Gm6802 T G 12: 19,540,546 (GRCm39) noncoding transcript Het
Igkv8-21 A G 6: 70,292,153 (GRCm39) S30P probably benign Het
Lig4 A G 8: 10,023,586 (GRCm39) Y65H probably damaging Het
Mpzl1 T C 1: 165,433,336 (GRCm39) D105G probably benign Het
Myo10 A G 15: 25,736,703 (GRCm39) I451V possibly damaging Het
Nos2 G T 11: 78,848,278 (GRCm39) V1062L probably damaging Het
Oas2 A G 5: 120,886,657 (GRCm39) S170P probably damaging Het
Or1j19 G T 2: 36,677,367 (GRCm39) V277L probably benign Het
Or5w11 T A 2: 87,458,973 (GRCm39) H55Q probably benign Het
Or8b3b A T 9: 38,584,379 (GRCm39) Y120* probably null Het
Or8g37 A G 9: 39,731,298 (GRCm39) D121G probably damaging Het
Pcdh7 T C 5: 57,877,546 (GRCm39) L367P probably damaging Het
Pde3a A G 6: 141,405,464 (GRCm39) T439A probably damaging Het
Plekhm2 T C 4: 141,369,312 (GRCm39) Y124C probably damaging Het
Ppp4r4 T A 12: 103,543,108 (GRCm39) W155R probably damaging Het
Prl7c1 C A 13: 27,960,198 (GRCm39) A115S probably damaging Het
Psg25 T C 7: 18,263,590 (GRCm39) I78V possibly damaging Het
Ptpn9 T A 9: 56,944,002 (GRCm39) V292E probably benign Het
Ptprs G A 17: 56,728,261 (GRCm39) R908C probably damaging Het
Rps6ka1 C T 4: 133,599,275 (GRCm39) V51I probably damaging Het
Scube1 T C 15: 83,504,332 (GRCm39) I492V probably benign Het
Ubr4 T C 4: 139,187,554 (GRCm39) V739A possibly damaging Het
Unc79 T C 12: 103,136,018 (GRCm39) probably benign Het
Vmn2r27 G A 6: 124,200,791 (GRCm39) P389S possibly damaging Het
Wipi2 T A 5: 142,646,798 (GRCm39) F212I possibly damaging Het
Posted On 2013-11-05