Incidental Mutation 'R9366:Trappc9'
ID 709008
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9366 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72808937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 709 (I709V)
Ref Sequence ENSEMBL: ENSMUSP00000087202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770] [ENSMUST00000168191] [ENSMUST00000170633]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023276
AA Change: I530V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: I530V

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089770
AA Change: I709V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: I709V

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 probably benign
Transcript: ENSMUST00000168191
AA Change: I709V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: I709V

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170633
AA Change: I718V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: I718V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 C T 8: 71,914,328 (GRCm39) R100Q probably benign Het
Acp5 C T 9: 22,039,224 (GRCm39) C163Y probably damaging Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
Atp2b4 C A 1: 133,642,920 (GRCm39) G1062C probably damaging Het
Bicral A T 17: 47,117,558 (GRCm39) M788K possibly damaging Het
C1s2 C A 6: 124,602,694 (GRCm39) A506S probably benign Het
Capn9 C G 8: 125,332,280 (GRCm39) T417S probably benign Het
Cd109 T G 9: 78,622,275 (GRCm39) S1422A probably benign Het
Cd207 G T 6: 83,648,779 (GRCm39) N294K probably damaging Het
Cdc42bpa A G 1: 179,921,675 (GRCm39) E605G probably damaging Het
Cdhr1 C A 14: 36,811,463 (GRCm39) G216V possibly damaging Het
Ckap2 A T 8: 22,658,988 (GRCm39) M585K possibly damaging Het
Clp1 G T 2: 84,556,473 (GRCm39) S2R probably benign Het
Cngb3 G T 4: 19,395,983 (GRCm39) V342F probably benign Het
Col18a1 T C 10: 76,932,258 (GRCm39) D65G unknown Het
Col3a1 C T 1: 45,380,391 (GRCm39) P972S unknown Het
Cxcr5 C T 9: 44,424,730 (GRCm39) C309Y possibly damaging Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dcc A T 18: 71,708,281 (GRCm39) N478K probably damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Emsy A T 7: 98,290,860 (GRCm39) N101K probably benign Het
Epb41l5 A G 1: 119,548,448 (GRCm39) Y137H probably damaging Het
Etfdh C T 3: 79,519,271 (GRCm39) G354D probably benign Het
Fa2h A T 8: 112,076,006 (GRCm39) Y206N probably benign Het
Gabrr2 T C 4: 33,085,771 (GRCm39) V217A Het
Gimap4 A G 6: 48,668,037 (GRCm39) K264R probably benign Het
Gpr31b C A 17: 13,270,375 (GRCm39) D265Y probably damaging Het
Irx4 A G 13: 73,417,025 (GRCm39) T474A probably benign Het
Kif21a T C 15: 90,843,951 (GRCm39) E1096G probably damaging Het
Letm2 A T 8: 26,084,165 (GRCm39) V22E probably damaging Het
Lrrc45 A G 11: 120,611,552 (GRCm39) E642G probably damaging Het
Mark1 A T 1: 184,653,792 (GRCm39) V170E probably damaging Het
Mbd6 G A 10: 127,122,304 (GRCm39) Q175* probably null Het
Mrc1 T A 2: 14,321,709 (GRCm39) D1067E probably damaging Het
Muc5b A G 7: 141,417,041 (GRCm39) H3329R probably benign Het
Myh1 A T 11: 67,110,114 (GRCm39) D1434V probably damaging Het
Myo5a T A 9: 75,124,800 (GRCm39) L1785Q probably damaging Het
Myrfl A G 10: 116,670,358 (GRCm39) I295T possibly damaging Het
Nav3 C A 10: 109,659,364 (GRCm39) R751L probably damaging Het
Neb T C 2: 52,172,699 (GRCm39) K1536R probably benign Het
Nynrin T G 14: 56,100,587 (GRCm39) S126A probably damaging Het
Or13p3 A T 4: 118,566,831 (GRCm39) T76S probably damaging Het
Or5m8 A G 2: 85,822,731 (GRCm39) D190G possibly damaging Het
Or6c69c A T 10: 129,911,067 (GRCm39) K263* probably null Het
Parp14 A C 16: 35,659,630 (GRCm39) probably null Het
Phldb1 G T 9: 44,622,546 (GRCm39) L36M possibly damaging Het
Pin1 C A 9: 20,566,841 (GRCm39) T81N probably damaging Het
Pkhd1l1 T C 15: 44,410,308 (GRCm39) I2605T probably benign Het
Plcb3 A G 19: 6,937,658 (GRCm39) probably null Het
Proser3 G A 7: 30,248,478 (GRCm39) S72L probably damaging Het
Pum2 T A 12: 8,783,344 (GRCm39) S598T probably benign Het
Pwp1 T A 10: 85,717,870 (GRCm39) N269K probably damaging Het
Qsox1 A G 1: 155,665,162 (GRCm39) S260P probably benign Het
Ric3 A G 7: 108,653,644 (GRCm39) L149P probably damaging Het
Rif1 A G 2: 52,010,356 (GRCm39) T707A Het
Rnf213 A C 11: 119,327,057 (GRCm39) R1682S Het
Rpgrip1l G T 8: 91,996,809 (GRCm39) Y690* probably null Het
Slc29a2 A G 19: 5,074,609 (GRCm39) T34A probably damaging Het
Slc6a1 A G 6: 114,280,974 (GRCm39) N176S possibly damaging Het
Slco1b2 T A 6: 141,602,552 (GRCm39) Y168* probably null Het
Snca C A 6: 60,792,675 (GRCm39) A78S probably benign Het
Snrnp200 T A 2: 127,058,010 (GRCm39) D257E probably benign Het
Srebf2 T C 15: 82,083,837 (GRCm39) V959A probably benign Het
Stk3 A C 15: 35,072,634 (GRCm39) I209S probably damaging Het
Thsd7a A T 6: 12,555,480 (GRCm39) C135S Het
Tlnrd1 G T 7: 83,531,582 (GRCm39) A283E probably benign Het
Tomm70a A T 16: 56,970,259 (GRCm39) K546* probably null Het
Trak1 C T 9: 121,301,578 (GRCm39) T778I probably damaging Het
Trgc3 A G 13: 19,446,825 (GRCm39) T115A probably benign Het
Trp53rkb T C 2: 166,637,700 (GRCm39) S219P possibly damaging Het
Ubqlnl G C 7: 103,798,592 (GRCm39) L302V possibly damaging Het
Uqcc1 C A 2: 155,771,995 (GRCm39) probably benign Het
Vps13a G A 19: 16,672,894 (GRCm39) R1293W probably damaging Het
Vps9d1 G T 8: 123,974,486 (GRCm39) S267* probably null Het
Vwa5b1 A T 4: 138,318,229 (GRCm39) I546N probably damaging Het
Zbtb8b A T 4: 129,326,151 (GRCm39) M338K probably benign Het
Zfp652 C T 11: 95,643,833 (GRCm39) R344* probably null 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
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
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'- AGTGTCCGCTCTCTACAGG -3'
(R):5'- CCCAAATTCTGTGTGTAAAGCCAGG -3'
Posted On 2022-04-18