Incidental Mutation 'R2166:Trappc2l'
ID 235493
Institutional Source Beutler Lab
Gene Symbol Trappc2l
Ensembl Gene ENSMUSG00000015013
Gene Name trafficking protein particle complex 2L
Synonyms Tca17, 1810017G16Rik
MMRRC Submission 040169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2166 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123338365-123342330 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123339901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 44 (S44T)
Ref Sequence ENSEMBL: ENSMUSP00000015157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015157] [ENSMUST00000015171] [ENSMUST00000127664] [ENSMUST00000212319]
AlphaFold Q9JME7
Predicted Effect probably benign
Transcript: ENSMUST00000015157
AA Change: S44T

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000015157
Gene: ENSMUSG00000015013
AA Change: S44T

DomainStartEndE-ValueType
Pfam:Sybindin 5 138 3.3e-12 PFAM
Pfam:Sedlin_N 7 137 7.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000015171
SMART Domains Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Sulfatase 28 353 2.3e-91 PFAM
Pfam:Phosphodiest 30 315 2.1e-11 PFAM
Pfam:Sulfatase_C 376 507 2.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211904
Predicted Effect probably benign
Transcript: ENSMUST00000212319
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212477
Meta Mutation Damage Score 0.0993 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Birc6 A T 17: 74,942,790 (GRCm39) T2761S probably benign Het
Cav1 A T 6: 17,339,430 (GRCm39) I141F possibly damaging Het
Cmklr2 A G 1: 63,223,107 (GRCm39) F43L probably benign Het
Gm973 A G 1: 59,565,898 (GRCm39) D39G possibly damaging Het
Gucy1a2 T A 9: 3,579,513 (GRCm39) probably null Het
Il1b A T 2: 129,206,968 (GRCm39) M264K probably damaging Het
Itpr1 A G 6: 108,365,186 (GRCm39) Y38C probably damaging Het
Kcnb2 A C 1: 15,781,540 (GRCm39) D804A possibly damaging Het
Kcnt1 T A 2: 25,781,195 (GRCm39) probably benign Het
Krt6b T C 15: 101,587,050 (GRCm39) probably null Het
Mef2a A G 7: 66,915,870 (GRCm39) V144A probably damaging Het
Mroh3 A G 1: 136,113,791 (GRCm39) M666T probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nalcn T A 14: 123,607,363 (GRCm39) Y702F probably benign Het
Napepld T A 5: 21,888,230 (GRCm39) K73I possibly damaging Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Or8g21 G A 9: 38,906,513 (GRCm39) Q73* probably null Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Plbd1 A G 6: 136,590,788 (GRCm39) probably null Het
Ppp1r10 G T 17: 36,241,481 (GRCm39) R752L unknown Het
Prep T C 10: 44,968,751 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprz1 A G 6: 23,045,632 (GRCm39) N2134S possibly damaging Het
Rhbdl3 A G 11: 80,210,523 (GRCm39) Y92C probably damaging Het
Rtkn2 T C 10: 67,877,526 (GRCm39) S532P possibly damaging Het
Rtl1 T A 12: 109,556,988 (GRCm39) H1617L probably damaging Het
Skint6 T A 4: 112,711,649 (GRCm39) N956I probably benign Het
Slc13a2 A G 11: 78,293,901 (GRCm39) V287A probably benign Het
Slc9a2 A G 1: 40,781,928 (GRCm39) K386E probably damaging Het
Spata20 G A 11: 94,369,930 (GRCm39) H789Y probably benign Het
Stk19 A G 17: 35,051,486 (GRCm39) I23T possibly damaging Het
Tonsl A G 15: 76,521,513 (GRCm39) I293T probably benign Het
Topbp1 A G 9: 103,190,128 (GRCm39) probably null Het
Tsr1 A G 11: 74,798,280 (GRCm39) probably null Het
Ugdh A G 5: 65,574,357 (GRCm39) probably benign Het
Unc119 A G 11: 78,238,161 (GRCm39) probably null Het
Zkscan14 G A 5: 145,132,944 (GRCm39) P196S probably benign Het
Zmat4 T C 8: 24,392,152 (GRCm39) L36P probably damaging Het
Other mutations in Trappc2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT1430001:Trappc2l UTSW 8 123,339,874 (GRCm39) missense probably damaging 1.00
R0241:Trappc2l UTSW 8 123,341,132 (GRCm39) unclassified probably benign
R1451:Trappc2l UTSW 8 123,342,134 (GRCm39) missense probably damaging 0.99
R1542:Trappc2l UTSW 8 123,342,146 (GRCm39) missense probably damaging 1.00
R7177:Trappc2l UTSW 8 123,341,051 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGTCATTGTCAGGCTGAGAG -3'
(R):5'- AATGTCCAGAGGCTTCCATTAGC -3'

Sequencing Primer
(F):5'- TCTGTACATCCGAAGCAC -3'
(R):5'- AGGCTTCCATTAGCTTCGGGC -3'
Posted On 2014-10-01