Incidental Mutation 'R7282:Trappc10'
ID 565742
Institutional Source Beutler Lab
Gene Symbol Trappc10
Ensembl Gene ENSMUSG00000000374
Gene Name trafficking protein particle complex 10
Synonyms B230307C21Rik, Tmem1, b2b2613Clo, b2b2416Clo, LOC380642
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7282 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 78022559-78080475 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78043327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 555 (E555G)
Ref Sequence ENSEMBL: ENSMUSP00000000384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000384]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000000384
AA Change: E555G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
AA Change: E555G

DomainStartEndE-ValueType
Pfam:TRAPPC10 1016 1245 1.1e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217858
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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 a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cardiovascular phenotypes, including atrioventricular or ventricular septal defects, thymus hypoplasia, and eye defects such as microphthalmia or anophthalmia. Holoprosencephaly, anencephaly and severe craniofacial defects may be also present. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik C A 11: 58,316,582 (GRCm39) D187E probably damaging Het
Abl2 T C 1: 156,457,630 (GRCm39) Y299H probably damaging Het
Acsl3 T A 1: 78,659,709 (GRCm39) N120K probably damaging Het
Aldh1a1 A G 19: 20,606,434 (GRCm39) K255R possibly damaging Het
Baz2b C T 2: 59,750,781 (GRCm39) R1205H probably benign Het
Btbd8 G T 5: 107,655,062 (GRCm39) V954L probably benign Het
Btbd8 A G 5: 107,658,371 (GRCm39) D1647G probably damaging Het
Carmil1 A G 13: 24,197,387 (GRCm39) S1350P probably benign Het
Cecr2 A T 6: 120,738,582 (GRCm39) N325I Het
Cep120 C T 18: 53,873,161 (GRCm39) A57T probably damaging Het
Chst8 T C 7: 34,447,628 (GRCm39) probably null Het
Cntn4 A T 6: 106,502,421 (GRCm39) I393F probably damaging Het
Crocc T C 4: 140,749,652 (GRCm39) D1494G probably damaging Het
Cwc25 T C 11: 97,638,832 (GRCm39) E364G possibly damaging Het
Dnah7a C A 1: 53,724,059 (GRCm39) probably null Het
Drg2 A G 11: 60,345,519 (GRCm39) E5G probably benign Het
Ehd4 T C 2: 119,921,729 (GRCm39) H509R probably damaging Het
Enam A T 5: 88,650,186 (GRCm39) N565I probably damaging Het
Evi2a G T 11: 79,418,249 (GRCm39) N120K probably benign Het
Faim A G 9: 98,874,179 (GRCm39) T2A probably benign Het
Fcgbpl1 A G 7: 27,843,833 (GRCm39) N907S probably benign Het
Fmnl1 T C 11: 103,087,091 (GRCm39) V836A unknown Het
Fosb T C 7: 19,039,113 (GRCm39) I224V possibly damaging Het
Frem3 A T 8: 81,338,660 (GRCm39) T318S probably damaging Het
Gm9972 G A 11: 42,927,631 (GRCm39) G93R unknown Het
Gtf2a1 A T 12: 91,534,609 (GRCm39) I215N possibly damaging Het
Hs3st3b1 A G 11: 63,812,397 (GRCm39) V106A probably benign Het
Igkv19-93 T C 6: 68,713,485 (GRCm39) D48G probably benign Het
Itgb8 A T 12: 119,201,443 (GRCm39) W31R probably benign Het
Kmt2d A T 15: 98,751,985 (GRCm39) W1995R unknown Het
Lama3 G T 18: 12,572,449 (GRCm39) Q551H probably damaging Het
Lama5 T C 2: 179,843,588 (GRCm39) Y453C probably damaging Het
Lbhd2 G A 12: 111,376,724 (GRCm39) R57H probably damaging Het
Lcmt2 A G 2: 120,969,271 (GRCm39) V384A probably damaging Het
Lgsn T G 1: 31,242,452 (GRCm39) L178R probably damaging Het
Lhcgr C T 17: 89,065,811 (GRCm39) V193I probably benign Het
Lta4h T C 10: 93,289,373 (GRCm39) M1T probably null Het
Ly6l T C 15: 75,321,345 (GRCm39) S14P probably damaging Het
Met C A 6: 17,547,011 (GRCm39) C881* probably null Het
Mettl21e A T 1: 44,249,399 (GRCm39) Y86N probably damaging Het
Mgam A T 6: 40,633,446 (GRCm39) N251Y possibly damaging Het
Mgam A G 6: 40,740,045 (GRCm39) T1673A probably benign Het
Mmp27 T A 9: 7,578,231 (GRCm39) V357D probably damaging Het
Muc2 A G 7: 141,306,481 (GRCm39) E740G Het
Myoc C A 1: 162,476,413 (GRCm39) S372R probably benign Het
Ncor2 A T 5: 125,097,104 (GRCm39) M1358K Het
Nol6 A G 4: 41,119,468 (GRCm39) S613P probably benign Het
Nuggc T A 14: 65,855,072 (GRCm39) I334N probably damaging Het
Nxnl2 C T 13: 51,325,542 (GRCm39) P62S probably damaging Het
Ogfod1 C T 8: 94,764,067 (GRCm39) H51Y possibly damaging Het
Olfml1 T A 7: 107,189,530 (GRCm39) D198E possibly damaging Het
Or2t26 A C 11: 49,039,945 (GRCm39) N287T probably damaging Het
Ovch2 C T 7: 107,393,577 (GRCm39) R183H possibly damaging Het
Plxnd1 A T 6: 115,937,798 (GRCm39) L1516Q probably damaging Het
Pramel27 A G 4: 143,578,451 (GRCm39) N237S possibly damaging Het
Prrc2c A G 1: 162,507,543 (GRCm39) V2448A possibly damaging Het
Rexo5 C T 7: 119,417,636 (GRCm39) T212I probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Rnf213 T G 11: 119,328,818 (GRCm39) I2030S Het
Rtf1 C T 2: 119,505,580 (GRCm39) A11V unknown Het
Setdb1 T G 3: 95,245,985 (GRCm39) T647P probably damaging Het
Shisa6 G C 11: 66,393,480 (GRCm39) P272R possibly damaging Het
Slc25a54 G T 3: 109,023,817 (GRCm39) G471* probably null Het
Slc30a1 A G 1: 191,641,544 (GRCm39) T397A probably benign Het
Slc7a14 A G 3: 31,281,302 (GRCm39) F336S possibly damaging Het
Slitrk3 C T 3: 72,957,798 (GRCm39) V325I possibly damaging Het
Sptan1 A G 2: 29,876,941 (GRCm39) Y361C probably damaging Het
Stard9 A G 2: 120,528,984 (GRCm39) D1747G probably benign Het
Taf3 T C 2: 9,956,253 (GRCm39) E638G probably damaging Het
Tbc1d8 T C 1: 39,411,614 (GRCm39) D1074G probably benign Het
Tecrl G A 5: 83,502,754 (GRCm39) H32Y probably benign Het
Tgm3 T A 2: 129,866,481 (GRCm39) M133K probably benign Het
Tmem131 A G 1: 36,880,685 (GRCm39) F195S probably damaging Het
Tmem82 T C 4: 141,342,261 (GRCm39) I314V possibly damaging Het
Ubn2 A T 6: 38,429,811 (GRCm39) K176* probably null Het
Ucp1 G A 8: 84,020,531 (GRCm39) G114R probably benign Het
Unc5c A G 3: 141,383,751 (GRCm39) D43G probably damaging Het
Vmn2r3 C T 3: 64,168,825 (GRCm39) V571M possibly damaging Het
Vwa3a A T 7: 120,385,688 (GRCm39) I677L probably benign Het
Wdr48 T C 9: 119,740,147 (GRCm39) S319P probably damaging Het
Other mutations in Trappc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Trappc10 APN 10 78,039,711 (GRCm39) splice site probably benign
IGL01375:Trappc10 APN 10 78,024,733 (GRCm39) missense possibly damaging 0.75
IGL01413:Trappc10 APN 10 78,033,678 (GRCm39) missense possibly damaging 0.87
IGL02413:Trappc10 APN 10 78,046,610 (GRCm39) missense probably damaging 0.99
IGL03037:Trappc10 APN 10 78,034,869 (GRCm39) unclassified probably benign
IGL03094:Trappc10 APN 10 78,064,754 (GRCm39) splice site probably benign
IGL03164:Trappc10 APN 10 78,056,076 (GRCm39) missense probably damaging 1.00
IGL03351:Trappc10 APN 10 78,024,595 (GRCm39) missense probably damaging 1.00
IGL03055:Trappc10 UTSW 10 78,050,520 (GRCm39) missense probably damaging 1.00
IGL03098:Trappc10 UTSW 10 78,050,520 (GRCm39) missense probably damaging 1.00
R0304:Trappc10 UTSW 10 78,046,594 (GRCm39) splice site probably benign
R0605:Trappc10 UTSW 10 78,037,331 (GRCm39) missense possibly damaging 0.70
R1806:Trappc10 UTSW 10 78,046,610 (GRCm39) missense probably damaging 0.99
R1856:Trappc10 UTSW 10 78,032,285 (GRCm39) missense probably benign 0.00
R2045:Trappc10 UTSW 10 78,045,313 (GRCm39) splice site probably benign
R2088:Trappc10 UTSW 10 78,032,168 (GRCm39) missense probably benign 0.00
R2126:Trappc10 UTSW 10 78,039,758 (GRCm39) missense possibly damaging 0.94
R2202:Trappc10 UTSW 10 78,034,876 (GRCm39) critical splice donor site probably null
R2509:Trappc10 UTSW 10 78,047,357 (GRCm39) missense possibly damaging 0.51
R2510:Trappc10 UTSW 10 78,047,357 (GRCm39) missense possibly damaging 0.51
R2511:Trappc10 UTSW 10 78,047,357 (GRCm39) missense possibly damaging 0.51
R2893:Trappc10 UTSW 10 78,029,235 (GRCm39) missense probably benign 0.00
R3744:Trappc10 UTSW 10 78,034,924 (GRCm39) missense probably benign 0.00
R3778:Trappc10 UTSW 10 78,036,636 (GRCm39) missense possibly damaging 0.89
R3876:Trappc10 UTSW 10 78,056,020 (GRCm39) splice site probably null
R3930:Trappc10 UTSW 10 78,046,237 (GRCm39) missense probably benign 0.03
R4078:Trappc10 UTSW 10 78,046,216 (GRCm39) missense probably damaging 1.00
R4111:Trappc10 UTSW 10 78,032,264 (GRCm39) missense probably benign 0.09
R4418:Trappc10 UTSW 10 78,053,022 (GRCm39) missense probably damaging 1.00
R4549:Trappc10 UTSW 10 78,067,292 (GRCm39) missense probably damaging 1.00
R4695:Trappc10 UTSW 10 78,033,697 (GRCm39) missense probably damaging 0.99
R4799:Trappc10 UTSW 10 78,037,424 (GRCm39) missense possibly damaging 0.71
R5022:Trappc10 UTSW 10 78,052,994 (GRCm39) missense possibly damaging 0.72
R5023:Trappc10 UTSW 10 78,052,994 (GRCm39) missense possibly damaging 0.72
R5026:Trappc10 UTSW 10 78,040,122 (GRCm39) missense possibly damaging 0.82
R5057:Trappc10 UTSW 10 78,052,994 (GRCm39) missense possibly damaging 0.72
R5282:Trappc10 UTSW 10 78,023,694 (GRCm39) missense probably damaging 1.00
R5363:Trappc10 UTSW 10 78,024,674 (GRCm39) missense possibly damaging 0.92
R5813:Trappc10 UTSW 10 78,058,573 (GRCm39) missense probably damaging 1.00
R5831:Trappc10 UTSW 10 78,045,260 (GRCm39) missense probably damaging 1.00
R6209:Trappc10 UTSW 10 78,050,646 (GRCm39) missense possibly damaging 0.50
R6450:Trappc10 UTSW 10 78,045,284 (GRCm39) missense possibly damaging 0.92
R6520:Trappc10 UTSW 10 78,037,287 (GRCm39) missense probably benign 0.00
R6533:Trappc10 UTSW 10 78,024,728 (GRCm39) missense probably damaging 0.96
R6767:Trappc10 UTSW 10 78,029,345 (GRCm39) missense possibly damaging 0.75
R6798:Trappc10 UTSW 10 78,024,665 (GRCm39) missense probably benign 0.00
R7205:Trappc10 UTSW 10 78,046,262 (GRCm39) missense probably damaging 1.00
R7378:Trappc10 UTSW 10 78,029,252 (GRCm39) missense probably damaging 0.96
R7384:Trappc10 UTSW 10 78,045,218 (GRCm39) missense possibly damaging 0.85
R7770:Trappc10 UTSW 10 78,046,679 (GRCm39) missense probably damaging 0.96
R7829:Trappc10 UTSW 10 78,034,909 (GRCm39) missense probably benign
R7839:Trappc10 UTSW 10 78,024,646 (GRCm39) missense possibly damaging 0.84
R8298:Trappc10 UTSW 10 78,038,753 (GRCm39) missense probably damaging 1.00
R8306:Trappc10 UTSW 10 78,036,460 (GRCm39) missense possibly damaging 0.54
R8814:Trappc10 UTSW 10 78,038,753 (GRCm39) missense probably damaging 1.00
R9035:Trappc10 UTSW 10 78,043,723 (GRCm39) unclassified probably benign
R9075:Trappc10 UTSW 10 78,040,130 (GRCm39) missense possibly damaging 0.77
R9112:Trappc10 UTSW 10 78,029,201 (GRCm39) missense probably damaging 0.99
R9182:Trappc10 UTSW 10 78,050,464 (GRCm39) missense probably damaging 1.00
R9444:Trappc10 UTSW 10 78,033,612 (GRCm39) missense probably benign 0.10
R9801:Trappc10 UTSW 10 78,045,263 (GRCm39) missense probably benign 0.00
Z1177:Trappc10 UTSW 10 78,052,987 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTCACTTAGGTTCAGCAAAG -3'
(R):5'- AAGACAGCTCTTCTTTGGGC -3'

Sequencing Primer
(F):5'- TCACTTAGGTTCAGCAAAGAAAAAG -3'
(R):5'- CTCTTCTTTGGGCCATGCTTTGAAG -3'
Posted On 2019-06-26