Incidental Mutation 'R4973:Trappc9'
ID 382425
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 042568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4973 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 72808905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 540 (N540K)
Ref Sequence ENSEMBL: ENSMUSP00000023276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770] [ENSMUST00000168191] [ENSMUST00000170633]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023276
AA Change: N540K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: N540K

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089770
AA Change: N719K

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: N719K

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: N719K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: N719K

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170633
AA Change: N728K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: N728K

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 noncoding transcript
Transcript: ENSMUST00000230025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230270
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 97% (115/118)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,282,808 (GRCm39) I221K possibly damaging Het
Abhd16a T A 17: 35,321,318 (GRCm39) S498T probably benign Het
Adamts18 G A 8: 114,463,357 (GRCm39) R830* probably null Het
Ankrd27 A G 7: 35,332,417 (GRCm39) D848G probably benign Het
Art3 A G 5: 92,551,478 (GRCm39) Y279C probably damaging Het
Atp2c2 A G 8: 120,481,002 (GRCm39) T797A probably benign Het
Ccdc121rt1 A T 1: 181,338,829 (GRCm39) V41E possibly damaging Het
Ccdc122 A T 14: 77,305,381 (GRCm39) I12F possibly damaging Het
Ccdc154 T C 17: 25,389,888 (GRCm39) L508P probably damaging Het
Cdk5r2 A G 1: 74,894,831 (GRCm39) D192G probably damaging Het
Cgn C T 3: 94,685,564 (GRCm39) A320T probably benign Het
Cklf A G 8: 104,988,184 (GRCm39) K106E probably benign Het
Clec12a C A 6: 129,330,628 (GRCm39) T70K probably benign Het
Clock A G 5: 76,402,258 (GRCm39) V134A possibly damaging Het
CN725425 G A 15: 91,129,904 (GRCm39) A256T possibly damaging Het
Csf1r A T 18: 61,262,119 (GRCm39) I792F probably damaging Het
Csn1s1 T G 5: 87,821,120 (GRCm39) S33A probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
D5Ertd579e A G 5: 36,830,249 (GRCm39) V25A probably benign Het
D630045J12Rik C T 6: 38,125,302 (GRCm39) V1571M possibly damaging Het
Ddx5 C A 11: 106,675,833 (GRCm39) V286L possibly damaging Het
Deup1 G A 9: 15,523,310 (GRCm39) Q58* probably null Het
Dnhd1 T G 7: 105,362,840 (GRCm39) L3801V probably benign Het
Dph2 T A 4: 117,748,527 (GRCm39) D82V probably damaging Het
Ercc6 A G 14: 32,296,859 (GRCm39) D1283G probably damaging Het
Evi5l G T 8: 4,255,406 (GRCm39) V477L probably benign Het
Fam91a1 A G 15: 58,303,059 (GRCm39) T323A probably benign Het
Fanca G A 8: 124,035,261 (GRCm39) T228M probably damaging Het
Fat4 T G 3: 39,037,195 (GRCm39) S3616A probably benign Het
Fbxo16 G T 14: 65,558,746 (GRCm39) A302S probably benign Het
Fkbp5 T C 17: 28,647,343 (GRCm39) E164G probably damaging Het
Fpr-rs3 T C 17: 20,844,211 (GRCm39) Y310C possibly damaging Het
Fsip2 T C 2: 82,815,169 (GRCm39) I3634T probably benign Het
Gm6327 T C 16: 12,578,845 (GRCm39) noncoding transcript Het
Gnl3 A T 14: 30,735,462 (GRCm39) N411K possibly damaging Het
Golga1 A T 2: 38,929,118 (GRCm39) D308E probably damaging Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gsap A T 5: 21,459,037 (GRCm39) T501S probably benign Het
Helq A G 5: 100,940,737 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,234,108 (GRCm39) H291R probably benign Het
Htt A T 5: 34,970,367 (GRCm39) D505V probably damaging Het
Ildr1 C T 16: 36,528,660 (GRCm39) T35I probably benign Het
Iqgap2 A G 13: 95,794,305 (GRCm39) probably null Het
Kansl1 C T 11: 104,315,147 (GRCm39) R297H probably damaging Het
Kat2b-ps T C 5: 93,539,644 (GRCm39) noncoding transcript Het
Kbtbd2 A G 6: 56,758,943 (GRCm39) F60S probably benign Het
Kcnt2 A T 1: 140,537,388 (GRCm39) S1116C probably damaging Het
Krt9 C T 11: 100,079,538 (GRCm39) G618E unknown Het
Lsm5 A T 6: 56,680,309 (GRCm39) D44E probably damaging Het
Mdn1 A G 4: 32,734,418 (GRCm39) D3275G probably benign Het
Mindy2 A T 9: 70,512,453 (GRCm39) V599E possibly damaging Het
Nelfa A G 5: 34,059,162 (GRCm39) V231A probably benign Het
Nepro T C 16: 44,555,156 (GRCm39) Y411H probably benign Het
Nes T A 3: 87,882,983 (GRCm39) L414Q probably damaging Het
Neurl2 T A 2: 164,675,122 (GRCm39) probably null Het
Nkx1-1 G T 5: 33,588,410 (GRCm39) Q293K possibly damaging Het
Nphp3 C T 9: 103,909,198 (GRCm39) H803Y probably benign Het
Obscn A G 11: 59,023,292 (GRCm39) V695A probably damaging Het
Or10v5 A G 19: 11,806,300 (GRCm39) L30P probably benign Het
Or12d15 G A 17: 37,693,910 (GRCm39) A151T probably damaging Het
Or2f1 T C 6: 42,721,621 (GRCm39) S217P probably damaging Het
Or2t48 T C 11: 58,419,903 (GRCm39) E303G probably benign Het
Or4c106 T C 2: 88,682,516 (GRCm39) V74A possibly damaging Het
Or4f17-ps1 T A 2: 111,357,969 (GRCm39) F103L probably damaging Het
Or4p7 T A 2: 88,221,674 (GRCm39) L28I probably benign Het
Or7g35 A G 9: 19,496,504 (GRCm39) T224A probably benign Het
Or8d2b A G 9: 38,789,400 (GRCm39) *309W probably null Het
Orai3 T A 7: 127,373,348 (GRCm39) L283Q probably damaging Het
Pcdhb13 A T 18: 37,576,237 (GRCm39) D205V probably benign Het
Pdlim5 G A 3: 142,017,740 (GRCm39) probably benign Het
Pdzd2 A G 15: 12,375,734 (GRCm39) V1467A probably damaging Het
Pgm3 A G 9: 86,444,732 (GRCm39) S268P probably benign Het
Piezo2 A T 18: 63,207,751 (GRCm39) I1420N probably damaging Het
Pigp C A 16: 94,160,006 (GRCm39) G134V probably benign Het
Pik3c2g T C 6: 139,789,657 (GRCm39) Y385H possibly damaging Het
Pnliprp2 G A 19: 58,754,750 (GRCm39) E265K probably benign Het
Psmd13 T A 7: 140,466,766 (GRCm39) Y117* probably null Het
Ptprq C T 10: 107,522,416 (GRCm39) V546I probably damaging Het
Pum1 T G 4: 130,396,448 (GRCm39) S68A probably benign Het
Rnf167 T A 11: 70,540,701 (GRCm39) probably benign Het
Rnf213 T C 11: 119,318,983 (GRCm39) V1148A possibly damaging Het
Rnf216 T C 5: 143,076,071 (GRCm39) E271G probably benign Het
Ros1 A T 10: 52,031,087 (GRCm39) I506N probably damaging Het
Rpl37 G A 15: 5,147,128 (GRCm39) R56Q possibly damaging Het
Rpl41 A C 10: 128,384,576 (GRCm39) probably benign Het
Rttn A T 18: 89,060,292 (GRCm39) H998L probably damaging Het
Sacs G T 14: 61,450,571 (GRCm39) A4206S probably damaging Het
Slc22a14 CTTTCCTGAA C 9: 119,003,101 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,037,630 (GRCm39) probably benign Het
Slc39a3 A T 10: 80,866,796 (GRCm39) W317R probably damaging Het
Snd1 C A 6: 28,884,250 (GRCm39) Y766* probably null Het
Snrpd1 T C 18: 10,626,835 (GRCm39) V34A probably benign Het
Spire2 T A 8: 124,083,583 (GRCm39) I189N probably damaging Het
Stard6 A C 18: 70,631,631 (GRCm39) D74A possibly damaging Het
Sufu C T 19: 46,463,991 (GRCm39) T401I possibly damaging Het
Taar7b T A 10: 23,876,243 (GRCm39) F136Y probably benign Het
Taf6 G A 5: 138,181,465 (GRCm39) Q156* probably null Het
Tcp11l2 A G 10: 84,427,027 (GRCm39) I164V probably damaging Het
Tead4 T C 6: 128,247,950 (GRCm39) D29G probably damaging Het
Tns4 G T 11: 98,966,039 (GRCm39) P448Q probably damaging Het
Trbv28 C T 6: 41,248,788 (GRCm39) S106F probably damaging Het
Usp16 T A 16: 87,277,802 (GRCm39) M684K probably damaging Het
Usp45 A T 4: 21,815,372 (GRCm39) T362S probably damaging Het
Vcan A T 13: 89,836,961 (GRCm39) M2861K probably benign Het
Vps8 T C 16: 21,278,536 (GRCm39) S267P probably damaging Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zbtb34 T A 2: 33,301,626 (GRCm39) Q305L probably benign Het
Zfp267 C T 3: 36,218,285 (GRCm39) R102C possibly damaging Het
Zfp352 T A 4: 90,112,376 (GRCm39) V172E probably benign Het
Zfp454 T C 11: 50,764,950 (GRCm39) N161D probably benign Het
Zfp804b A T 5: 6,821,198 (GRCm39) S622T probably damaging Het
Zswim4 G T 8: 84,938,852 (GRCm39) A1010D 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
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
R7276:Trappc9 UTSW 15 72,924,119 (GRCm39) missense probably damaging 0.99
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'- TCCTGGTGACTCGGTTTCAC -3'
(R):5'- ACCTGAGCCCCAAATTCTG -3'

Sequencing Primer
(F):5'- ACTCGGTTTCACTTTGGGTAAC -3'
(R):5'- CCCAAATTCTGTGTGTAAAGCCAGG -3'
Posted On 2016-04-27