Incidental Mutation 'IGL01321:Trappc2b'
ID 74048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trappc2b
Ensembl Gene ENSMUSG00000007777
Gene Name trafficking protein particle complex 2B
Synonyms 0610009B22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01321
Quality Score
Status
Chromosome 11
Chromosomal Location 51576213-51579701 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 51576670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 76 (V76D)
Ref Sequence ENSEMBL: ENSMUSP00000104726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007921] [ENSMUST00000109098]
AlphaFold Q8R3W2
Predicted Effect probably damaging
Transcript: ENSMUST00000007921
AA Change: V76D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000007921
Gene: ENSMUSG00000007777
AA Change: V76D

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 136 7.3e-52 PFAM
Pfam:Sybindin 46 137 1.5e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109098
AA Change: V76D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104726
Gene: ENSMUSG00000007777
AA Change: V76D

DomainStartEndE-ValueType
Pfam:Sedlin_N 9 136 1e-50 PFAM
Pfam:Sybindin 46 137 1.4e-11 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 A G 4: 49,380,269 (GRCm39) S370P probably damaging Het
Adamts5 T C 16: 85,696,363 (GRCm39) R265G probably benign Het
Cd2ap T C 17: 43,156,280 (GRCm39) S86G possibly damaging Het
Cers3 A C 7: 66,435,751 (GRCm39) probably benign Het
Dnaaf2 G T 12: 69,243,376 (GRCm39) P562T probably damaging Het
Dnajc21 A C 15: 10,447,188 (GRCm39) V520G probably benign Het
Dync1h1 A G 12: 110,592,041 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,211 (GRCm39) N733D probably benign Het
Gm5499 T A 17: 87,385,928 (GRCm39) noncoding transcript Het
Gstm6 T C 3: 107,848,379 (GRCm39) Q180R probably benign Het
Hdlbp G A 1: 93,351,524 (GRCm39) R460W probably damaging Het
Ift81 T C 5: 122,749,031 (GRCm39) D40G probably damaging Het
Igsf3 T A 3: 101,334,338 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,147 (GRCm39) T158A probably benign Het
Lrrc59 C T 11: 94,529,426 (GRCm39) R167* probably null Het
Macf1 A G 4: 123,334,567 (GRCm39) C4397R probably damaging Het
Morc1 T C 16: 48,402,825 (GRCm39) S583P probably benign Het
Mucl3 A T 17: 35,947,758 (GRCm39) N490K probably damaging Het
Nipsnap2 T A 5: 129,834,205 (GRCm39) *282R probably null Het
Or2ag19 T C 7: 106,443,956 (GRCm39) L46P probably damaging Het
Or9m1b A T 2: 87,836,589 (GRCm39) C178S probably damaging Het
Parp14 T A 16: 35,676,929 (GRCm39) Q1013L probably benign Het
Pdzd8 A C 19: 59,289,961 (GRCm39) S480A probably benign Het
Piezo1 A T 8: 123,214,339 (GRCm39) S1609R probably damaging Het
Pkp4 G A 2: 59,180,971 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,327 (GRCm39) V106D probably damaging Het
Rimbp2 T C 5: 128,863,816 (GRCm39) Y724C probably benign Het
Rpgrip1l A T 8: 91,987,501 (GRCm39) L852* probably null Het
Samd9l T A 6: 3,376,259 (GRCm39) D334V probably benign Het
Sipa1l2 G A 8: 126,218,257 (GRCm39) T360M probably damaging Het
Slc30a2 A T 4: 134,070,611 (GRCm39) D5V probably damaging Het
Spata31 T C 13: 65,069,568 (GRCm39) I572T probably benign Het
Tma16 G A 8: 66,929,512 (GRCm39) L161F probably benign Het
Trim69 A T 2: 122,003,765 (GRCm39) E238V possibly damaging Het
Zfhx4 A G 3: 5,307,388 (GRCm39) T205A probably benign Het
Other mutations in Trappc2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1657:Trappc2b UTSW 11 51,576,505 (GRCm39) missense probably benign 0.00
R5157:Trappc2b UTSW 11 51,576,893 (GRCm39) missense probably benign
R5387:Trappc2b UTSW 11 51,576,801 (GRCm39) missense probably benign
R5541:Trappc2b UTSW 11 51,576,796 (GRCm39) missense probably benign 0.02
R5649:Trappc2b UTSW 11 51,576,799 (GRCm39) missense probably benign
Posted On 2013-10-07