Incidental Mutation 'R7276:Trappc9'
ID 565607
Institutional Source Beutler Lab
Gene Symbol Trappc9
Ensembl Gene ENSMUSG00000047921
Gene Name trafficking protein particle complex 9
Synonyms TRS130, Nibp, 2900005P22Rik, 4632408O18Rik, 1810044A24Rik
MMRRC Submission 045359-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7276 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 72924119 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 208 (H208N)
Ref Sequence ENSEMBL: ENSMUSP00000087202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770] [ENSMUST00000168191] [ENSMUST00000170633] [ENSMUST00000228960]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023276
AA Change: H20N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: H20N

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089770
AA Change: H208N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: H208N

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 182 350 4.1e-20 PFAM
Pfam:TRAPPC9-Trs120 434 664 2.2e-16 PFAM
low complexity region 993 1004 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000168191
AA Change: H208N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: H208N

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170633
AA Change: H208N

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: H208N

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 820 7.6e-224 PFAM
coiled coil region 857 885 N/A INTRINSIC
low complexity region 906 929 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228960
AA Change: H208N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive mental retardation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T C 3: 116,762,227 (GRCm39) V26A unknown Het
4930546C10Rik C T 18: 69,083,093 (GRCm39) W40* probably null Het
Abcc5 T C 16: 20,195,258 (GRCm39) probably null Het
Adamts18 T A 8: 114,501,896 (GRCm39) M322L probably damaging Het
Ankrd44 T A 1: 54,774,239 (GRCm39) N406I probably benign Het
Arhgap35 T G 7: 16,298,493 (GRCm39) T191P probably damaging Het
Atg3 G A 16: 44,982,805 (GRCm39) E37K possibly damaging Het
Bbs1 A T 19: 4,947,738 (GRCm39) probably null Het
BC048562 A G 9: 108,322,435 (GRCm39) N60D probably damaging Het
Btnl9 T A 11: 49,066,617 (GRCm39) I335F probably benign Het
C7 A T 15: 5,041,449 (GRCm39) C486S probably damaging Het
Cchcr1 C A 17: 35,840,031 (GRCm39) Q634K possibly damaging Het
Cd93 A T 2: 148,283,660 (GRCm39) V562E probably damaging Het
Cemip2 A G 19: 21,812,824 (GRCm39) I1010V probably benign Het
Cript T A 17: 87,341,696 (GRCm39) Y50* probably null Het
Dnah14 T A 1: 181,513,372 (GRCm39) F1908L probably benign Het
Dnah5 A G 15: 28,367,984 (GRCm39) N2790D probably damaging Het
Eif3h C A 15: 51,728,717 (GRCm39) probably null Het
Ffar3 C G 7: 30,555,273 (GRCm39) V16L possibly damaging Het
Gcn1 C T 5: 115,749,119 (GRCm39) R1884W probably damaging Het
Gpatch1 T A 7: 34,996,921 (GRCm39) M426L probably benign Het
Hcn2 T A 10: 79,564,934 (GRCm39) Y449N possibly damaging Het
Hdac10 T C 15: 89,012,488 (GRCm39) T32A probably benign Het
Hykk T C 9: 54,853,502 (GRCm39) Y275H probably damaging Het
Igfn1 G C 1: 135,926,376 (GRCm39) P25A possibly damaging Het
Jph1 T C 1: 17,162,266 (GRCm39) Q132R probably damaging Het
Kat2b T A 17: 53,931,450 (GRCm39) D149E probably damaging Het
Knl1 A T 2: 118,902,167 (GRCm39) K1289N probably damaging Het
Lrrc37a G A 11: 103,347,572 (GRCm39) S3041L unknown Het
Mtrex A T 13: 113,050,973 (GRCm39) Y201N probably benign Het
Mtus2 C T 5: 148,013,368 (GRCm39) R54C probably benign Het
Myo1d A T 11: 80,583,898 (GRCm39) I38N probably damaging Het
Nasp A G 4: 116,471,546 (GRCm39) S94P probably damaging Het
Nfat5 C A 8: 108,093,731 (GRCm39) N657K probably benign Het
Ngfr A G 11: 95,465,170 (GRCm39) L226P probably benign Het
Nos1 T C 5: 118,048,303 (GRCm39) S703P probably damaging Het
Nsun7 A G 5: 66,434,484 (GRCm39) D275G probably benign Het
Oas1d A G 5: 121,054,944 (GRCm39) N172S possibly damaging Het
Or11h4 A G 14: 50,974,187 (GRCm39) V144A possibly damaging Het
Or2y17 T A 11: 49,231,821 (GRCm39) M154K probably benign Het
Or4c11b T A 2: 88,625,025 (GRCm39) F100I probably damaging Het
Or52e8 T A 7: 104,624,857 (GRCm39) M116L possibly damaging Het
Papss1 A G 3: 131,324,995 (GRCm39) E484G probably benign Het
Pcdh15 A G 10: 74,160,224 (GRCm39) D447G probably benign Het
Phkg2 A G 7: 127,181,558 (GRCm39) E247G possibly damaging Het
Pramel30 A G 4: 144,059,216 (GRCm39) E309G possibly damaging Het
Prelid2 T C 18: 42,045,487 (GRCm39) N141S possibly damaging Het
Psg18 T C 7: 18,079,909 (GRCm39) M431V probably damaging Het
Psmd12 A T 11: 107,394,471 (GRCm39) R397* probably null Het
Ralgds G A 2: 28,435,884 (GRCm39) R503Q probably damaging Het
Rb1cc1 G A 1: 6,319,416 (GRCm39) C945Y probably benign Het
Rgs12 A G 5: 35,183,715 (GRCm39) D1026G probably benign Het
Scn7a G A 2: 66,587,506 (GRCm39) P66S probably damaging Het
Supt16 T C 14: 52,414,458 (GRCm39) E448G probably benign Het
Syt16 C T 12: 74,313,483 (GRCm39) R470C probably damaging Het
Tas2r114 T C 6: 131,666,310 (GRCm39) I239M probably damaging Het
Tecpr1 C T 5: 144,153,838 (GRCm39) W138* probably null Het
Tex101 T C 7: 24,369,829 (GRCm39) N45S probably damaging Het
Tmx1 C A 12: 70,512,917 (GRCm39) T275K possibly damaging Het
Trappc8 T G 18: 20,951,148 (GRCm39) I1434L probably damaging Het
Trcg1 T A 9: 57,149,862 (GRCm39) L478Q probably damaging Het
Trim42 G T 9: 97,251,625 (GRCm39) Y91* probably null Het
Vmn2r114 A G 17: 23,509,934 (GRCm39) S849P probably damaging Het
Vmn2r120 T C 17: 57,831,881 (GRCm39) T303A probably benign Het
Vmn2r13 A G 5: 109,321,645 (GRCm39) W351R probably damaging Het
Vmn2r53 T C 7: 12,340,359 (GRCm39) D38G probably damaging Het
Vsig8 C A 1: 172,390,850 (GRCm39) C411* probably null Het
Vwce A T 19: 10,641,538 (GRCm39) T755S possibly damaging Het
Wwp1 T C 4: 19,611,782 (GRCm39) S897G probably damaging Het
Zfp111 C A 7: 23,898,978 (GRCm39) C212F probably damaging Het
Zfp385b G T 2: 77,280,624 (GRCm39) H193N probably damaging Het
Zfp811 T C 17: 33,017,755 (GRCm39) E95G probably benign Het
Other mutations in Trappc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Trappc9 APN 15 72,897,875 (GRCm39) missense possibly damaging 0.79
IGL01348:Trappc9 APN 15 72,808,858 (GRCm39) missense possibly damaging 0.64
IGL01367:Trappc9 APN 15 72,462,002 (GRCm39) missense probably benign 0.31
IGL01521:Trappc9 APN 15 72,924,016 (GRCm39) missense probably damaging 1.00
IGL01726:Trappc9 APN 15 72,817,971 (GRCm39) missense probably damaging 0.98
IGL01881:Trappc9 APN 15 72,871,841 (GRCm39) missense probably damaging 1.00
IGL02214:Trappc9 APN 15 72,884,731 (GRCm39) nonsense probably null
IGL02693:Trappc9 APN 15 72,835,542 (GRCm39) splice site probably benign
IGL03229:Trappc9 APN 15 72,930,305 (GRCm39) missense probably damaging 1.00
basilio UTSW 15 72,930,242 (GRCm39) missense probably damaging 1.00
Boomboom UTSW 15 72,608,718 (GRCm39) nonsense probably null
bronto UTSW 15 72,930,087 (GRCm39) nonsense probably null
Earl UTSW 15 72,608,626 (GRCm39) nonsense probably null
Sotto_aceto UTSW 15 72,557,188 (GRCm39) missense probably damaging 0.99
P0026:Trappc9 UTSW 15 72,824,931 (GRCm39) missense probably damaging 1.00
PIT4453001:Trappc9 UTSW 15 72,903,447 (GRCm39) frame shift probably null
PIT4519001:Trappc9 UTSW 15 72,824,943 (GRCm39) missense probably benign
R0001:Trappc9 UTSW 15 72,835,511 (GRCm39) missense probably damaging 1.00
R0094:Trappc9 UTSW 15 72,894,929 (GRCm38) intron probably benign
R0745:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0747:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0800:Trappc9 UTSW 15 72,824,981 (GRCm39) splice site probably benign
R0816:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0819:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0820:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R0893:Trappc9 UTSW 15 72,461,956 (GRCm39) missense probably damaging 1.00
R0976:Trappc9 UTSW 15 72,871,823 (GRCm39) missense probably damaging 0.99
R1119:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1266:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1453:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1454:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1531:Trappc9 UTSW 15 72,565,397 (GRCm39) nonsense probably null
R1543:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1563:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1565:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1600:Trappc9 UTSW 15 72,808,958 (GRCm39) nonsense probably null
R1712:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1756:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1789:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R1978:Trappc9 UTSW 15 72,871,874 (GRCm39) missense probably damaging 1.00
R2001:Trappc9 UTSW 15 72,929,885 (GRCm39) missense probably damaging 0.99
R2312:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R2334:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R2926:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3123:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3124:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3125:Trappc9 UTSW 15 72,897,816 (GRCm39) missense probably damaging 1.00
R3813:Trappc9 UTSW 15 72,930,242 (GRCm39) missense probably damaging 1.00
R4012:Trappc9 UTSW 15 72,903,472 (GRCm39) missense possibly damaging 0.95
R4080:Trappc9 UTSW 15 72,813,796 (GRCm39) missense probably damaging 1.00
R4282:Trappc9 UTSW 15 72,462,641 (GRCm39) missense probably damaging 1.00
R4572:Trappc9 UTSW 15 72,808,916 (GRCm39) missense possibly damaging 0.61
R4739:Trappc9 UTSW 15 72,808,909 (GRCm39) missense probably damaging 0.97
R4959:Trappc9 UTSW 15 72,808,905 (GRCm39) missense probably damaging 1.00
R4973:Trappc9 UTSW 15 72,808,905 (GRCm39) missense probably damaging 1.00
R5123:Trappc9 UTSW 15 72,785,215 (GRCm39) intron probably benign
R5128:Trappc9 UTSW 15 72,930,242 (GRCm39) missense probably damaging 1.00
R5228:Trappc9 UTSW 15 72,929,844 (GRCm39) missense probably damaging 1.00
R5362:Trappc9 UTSW 15 72,930,066 (GRCm39) missense possibly damaging 0.68
R5802:Trappc9 UTSW 15 72,557,188 (GRCm39) missense probably damaging 0.99
R6032:Trappc9 UTSW 15 72,797,379 (GRCm39) missense probably benign 0.43
R6032:Trappc9 UTSW 15 72,797,379 (GRCm39) missense probably benign 0.43
R6154:Trappc9 UTSW 15 72,929,930 (GRCm39) missense probably benign 0.03
R6372:Trappc9 UTSW 15 72,461,923 (GRCm39) missense possibly damaging 0.75
R6661:Trappc9 UTSW 15 72,461,993 (GRCm39) missense possibly damaging 0.55
R6864:Trappc9 UTSW 15 72,809,011 (GRCm39) splice site probably null
R6893:Trappc9 UTSW 15 72,797,499 (GRCm39) missense possibly damaging 0.93
R7099:Trappc9 UTSW 15 72,565,468 (GRCm39) missense probably benign 0.00
R7349:Trappc9 UTSW 15 72,608,718 (GRCm39) nonsense probably null
R8260:Trappc9 UTSW 15 72,813,758 (GRCm39) nonsense probably null
R8399:Trappc9 UTSW 15 72,924,131 (GRCm39) missense probably damaging 1.00
R8683:Trappc9 UTSW 15 72,884,664 (GRCm39) missense probably benign 0.26
R8839:Trappc9 UTSW 15 72,930,087 (GRCm39) nonsense probably null
R8945:Trappc9 UTSW 15 72,929,945 (GRCm39) missense probably benign
R9083:Trappc9 UTSW 15 72,608,626 (GRCm39) nonsense probably null
R9323:Trappc9 UTSW 15 72,565,431 (GRCm39) missense probably benign 0.41
R9329:Trappc9 UTSW 15 72,673,202 (GRCm39) missense unknown
R9366:Trappc9 UTSW 15 72,808,937 (GRCm39) missense probably benign
R9723:Trappc9 UTSW 15 72,461,963 (GRCm39) missense possibly damaging 0.87
RF008:Trappc9 UTSW 15 72,673,138 (GRCm39) small insertion probably benign
RF009:Trappc9 UTSW 15 72,673,136 (GRCm39) small insertion probably benign
RF014:Trappc9 UTSW 15 72,673,132 (GRCm39) small insertion probably benign
RF016:Trappc9 UTSW 15 72,673,138 (GRCm39) small insertion probably benign
RF023:Trappc9 UTSW 15 72,673,180 (GRCm39) small insertion probably benign
RF023:Trappc9 UTSW 15 72,673,173 (GRCm39) small insertion probably benign
RF028:Trappc9 UTSW 15 72,673,139 (GRCm39) small insertion probably benign
RF029:Trappc9 UTSW 15 72,673,172 (GRCm39) small insertion probably benign
RF030:Trappc9 UTSW 15 72,673,174 (GRCm39) small insertion probably benign
RF034:Trappc9 UTSW 15 72,673,147 (GRCm39) small insertion probably benign
RF036:Trappc9 UTSW 15 72,673,169 (GRCm39) small insertion probably benign
RF038:Trappc9 UTSW 15 72,673,172 (GRCm39) small insertion probably benign
RF040:Trappc9 UTSW 15 72,673,141 (GRCm39) small insertion probably benign
RF042:Trappc9 UTSW 15 72,673,132 (GRCm39) small insertion probably benign
RF043:Trappc9 UTSW 15 72,673,154 (GRCm39) small insertion probably benign
RF049:Trappc9 UTSW 15 72,673,155 (GRCm39) small insertion probably benign
RF049:Trappc9 UTSW 15 72,673,150 (GRCm39) small insertion probably benign
RF053:Trappc9 UTSW 15 72,673,177 (GRCm39) small insertion probably benign
RF057:Trappc9 UTSW 15 72,673,144 (GRCm39) small insertion probably benign
RF063:Trappc9 UTSW 15 72,673,173 (GRCm39) small insertion probably benign
RF063:Trappc9 UTSW 15 72,673,169 (GRCm39) small insertion probably benign
Z1177:Trappc9 UTSW 15 72,924,011 (GRCm39) missense probably null 0.51
Predicted Primers PCR Primer
(F):5'- TGAGCCCACAGAGCAATTAGC -3'
(R):5'- TGGCTTCCAACCTTAGAGCC -3'

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