Incidental Mutation 'R6130:Trappc6a'
ID 487087
Institutional Source Beutler Lab
Gene Symbol Trappc6a
Ensembl Gene ENSMUSG00000002043
Gene Name trafficking protein particle complex 6A
Synonyms TRS33, 1810073E21Rik, 4930519D19Rik
MMRRC Submission 044277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6130 (G1)
Quality Score 164.009
Status Validated
Chromosome 7
Chromosomal Location 19242595-19250070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 19249219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 149 (A149T)
Ref Sequence ENSEMBL: ENSMUSP00000104095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002112] [ENSMUST00000078908] [ENSMUST00000108455] [ENSMUST00000135972] [ENSMUST00000136873] [ENSMUST00000147114] [ENSMUST00000207576] [ENSMUST00000214205]
AlphaFold Q78XR0
Predicted Effect probably benign
Transcript: ENSMUST00000002112
AA Change: A149T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043
AA Change: A149T

DomainStartEndE-ValueType
Pfam:TRAPP 6 159 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078908
SMART Domains Protein: ENSMUSP00000077943
Gene: ENSMUSG00000060621

DomainStartEndE-ValueType
low complexity region 71 103 N/A INTRINSIC
low complexity region 129 158 N/A INTRINSIC
Pfam:KAP_NTPase 186 642 5.7e-29 PFAM
low complexity region 771 780 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108455
AA Change: A149T

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043
AA Change: A149T

DomainStartEndE-ValueType
Pfam:TRAPP 7 157 8.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129808
Predicted Effect probably benign
Transcript: ENSMUST00000135972
AA Change: A71T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000120406
Gene: ENSMUSG00000002043
AA Change: A71T

DomainStartEndE-ValueType
Pfam:TRAPP 1 42 7e-11 PFAM
Pfam:TRAPP 38 81 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136873
Predicted Effect probably benign
Transcript: ENSMUST00000147114
Predicted Effect probably benign
Transcript: ENSMUST00000207576
Predicted Effect probably benign
Transcript: ENSMUST00000214205
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 96% (46/48)
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. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous mice exhibit pigmentation abnormalities including mosaic loss of coat pigment, patchy loss of pigmentation in the retinal pigmented epithelial layer, and abnormal melanosomes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abi3 T A 11: 95,727,921 (GRCm39) E90V probably damaging Het
Adgrv1 A C 13: 81,575,864 (GRCm39) V4834G probably damaging Het
Aen A T 7: 78,552,387 (GRCm39) probably null Het
Ankrd55 A G 13: 112,454,980 (GRCm39) D26G probably damaging Het
Antxr2 T C 5: 98,152,131 (GRCm39) E160G possibly damaging Het
Auts2 T C 5: 131,469,061 (GRCm39) H528R probably damaging Het
Casd1 A G 6: 4,641,948 (GRCm39) T742A probably damaging Het
Ccdc39 T C 3: 33,895,341 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,650 (GRCm39) Y60H probably damaging Het
Dennd4b T C 3: 90,183,566 (GRCm39) L935P probably damaging Het
Dnah6 T A 6: 73,165,477 (GRCm39) T543S probably benign Het
Dnai3 A C 3: 145,748,559 (GRCm39) Y852D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fdxacb1 C T 9: 50,683,902 (GRCm39) R420* probably null Het
Flg A G 3: 93,200,023 (GRCm39) probably benign Het
Fpr1 T A 17: 18,097,897 (GRCm39) I31F probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gsta1 T A 9: 78,149,847 (GRCm39) F220Y probably damaging Het
Hmg20a T A 9: 56,395,891 (GRCm39) probably null Het
Igf2bp1 A C 11: 95,864,846 (GRCm39) L201R probably damaging Het
Jph3 G A 8: 122,479,826 (GRCm39) R168H probably damaging Het
Kif1a T A 1: 92,964,623 (GRCm39) I1318F probably damaging Het
Lamc2 T C 1: 153,012,523 (GRCm39) N717S probably benign Het
Lepr A T 4: 101,622,569 (GRCm39) S450C probably damaging Het
Muc16 A G 9: 18,501,994 (GRCm39) V6535A probably damaging Het
Myom3 A G 4: 135,489,882 (GRCm39) T18A probably benign Het
Nlrp5 A G 7: 23,103,598 (GRCm39) K22E probably benign Het
Obscn A C 11: 58,968,771 (GRCm39) S2534A possibly damaging Het
Or1j21 A T 2: 36,684,055 (GRCm39) D269V probably benign Het
Or2ak5 A G 11: 58,611,133 (GRCm39) V247A probably damaging Het
Pcdhga8 T A 18: 37,860,580 (GRCm39) N545K possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Saxo4 G A 19: 10,455,128 (GRCm39) P233L probably benign Het
Scap A G 9: 110,209,447 (GRCm39) T707A possibly damaging Het
Scarf1 A G 11: 75,416,565 (GRCm39) Q669R probably benign Het
Scin T C 12: 40,119,435 (GRCm39) D531G probably benign Het
Sh2b3 T C 5: 121,953,626 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,155 (GRCm39) S657G probably benign Het
Stil T A 4: 114,887,058 (GRCm39) probably null Het
Syna T A 5: 134,587,122 (GRCm39) Q609L possibly damaging Het
Tmem59l A G 8: 70,937,255 (GRCm39) S271P probably damaging Het
Tns2 A G 15: 102,019,676 (GRCm39) E522G probably damaging Het
Trim21 A T 7: 102,212,498 (GRCm39) L156H possibly damaging Het
Trpv3 A G 11: 73,187,309 (GRCm39) R714G possibly damaging Het
Zfp87 T A 13: 74,520,460 (GRCm39) Q206L possibly damaging Het
Other mutations in Trappc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02193:Trappc6a APN 7 19,249,144 (GRCm39) missense possibly damaging 0.82
hawker UTSW 7 19,249,219 (GRCm39) missense probably benign 0.06
R1534:Trappc6a UTSW 7 19,248,138 (GRCm39) missense probably benign
R1744:Trappc6a UTSW 7 19,248,154 (GRCm39) missense probably damaging 1.00
R1939:Trappc6a UTSW 7 19,248,426 (GRCm39) missense probably damaging 1.00
R7813:Trappc6a UTSW 7 19,248,124 (GRCm39) critical splice acceptor site probably null
R8948:Trappc6a UTSW 7 19,249,923 (GRCm39) unclassified probably benign
R8950:Trappc6a UTSW 7 19,249,923 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCCACAGTATCTAGAGGAAGCC -3'
(R):5'- CTGGGCATATGATTCCATTCATG -3'

Sequencing Primer
(F):5'- GGAAGCCCCCAAGGTATTG -3'
(R):5'- CATGTCACATACAGCTTGG -3'
Posted On 2017-10-10