Incidental Mutation 'R2001:Trappc9'
ID 225973
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 040011-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2001 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72929885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 157 (I157T)
Ref Sequence ENSEMBL: ENSMUSP00000155105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023276] [ENSMUST00000089770] [ENSMUST00000168191] [ENSMUST00000170633] [ENSMUST00000228960]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023276
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089770
AA Change: I157T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: I157T

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 damaging
Transcript: ENSMUST00000168191
AA Change: I157T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: I157T

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170633
AA Change: I157T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: I157T

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: I157T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230270
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,571,800 (GRCm39) S559P probably benign Het
A430005L14Rik T A 4: 154,044,314 (GRCm39) C42S probably damaging Het
Abca13 A T 11: 9,223,967 (GRCm39) T449S probably benign Het
Acvr1c T A 2: 58,205,987 (GRCm39) Q41L probably benign Het
Adamts13 C T 2: 26,864,002 (GRCm39) P60L probably benign Het
Adamts20 T C 15: 94,245,599 (GRCm39) T568A possibly damaging Het
Ago1 T C 4: 126,348,187 (GRCm39) I44V probably null Het
Agtpbp1 TGAAGATGCATCTTGAGAAGA TGAAGA 13: 59,623,617 (GRCm39) probably null Het
Ankrd28 A T 14: 31,467,293 (GRCm39) V39E possibly damaging Het
Apaf1 A G 10: 90,897,676 (GRCm39) V269A possibly damaging Het
Astn1 A G 1: 158,348,091 (GRCm39) N506D probably damaging Het
BC051019 G A 7: 109,319,758 (GRCm39) Q102* probably null Het
Bpifb5 A G 2: 154,075,199 (GRCm39) T376A possibly damaging Het
Ccdc121rt1 G T 1: 181,338,551 (GRCm39) Q134K probably benign Het
Ccl20 ATT ATTT 1: 83,095,576 (GRCm39) probably null Het
Ccl6 G T 11: 83,480,163 (GRCm39) P68T possibly damaging Het
Cd300ld A T 11: 114,878,156 (GRCm39) F119I probably benign Het
Cdk2ap2 A G 19: 4,147,903 (GRCm39) M57V possibly damaging Het
Cemip2 A G 19: 21,779,351 (GRCm39) D387G probably benign Het
Chkb C T 15: 89,312,969 (GRCm39) G36E probably damaging Het
Col11a1 A G 3: 113,958,942 (GRCm39) probably null Het
Ctla2b T C 13: 61,043,881 (GRCm39) Y120C probably damaging Het
Ctnnd1 T C 2: 84,450,704 (GRCm39) N172S probably benign Het
Cyp2a22 G A 7: 26,634,197 (GRCm39) P319L probably damaging Het
Dcaf12 A C 4: 41,302,804 (GRCm39) V117G probably damaging Het
Ddx6 A G 9: 44,518,831 (GRCm39) T48A probably benign Het
Dgki T C 6: 36,842,736 (GRCm39) D923G possibly damaging Het
Dhx37 G T 5: 125,504,528 (GRCm39) T345K probably damaging Het
Dhx9 A T 1: 153,331,857 (GRCm39) Y1370* probably null Het
Dnah7b T C 1: 46,181,247 (GRCm39) S1045P possibly damaging Het
Dnmbp G C 19: 43,838,612 (GRCm39) T1071S possibly damaging Het
Dspp T A 5: 104,326,425 (GRCm39) S929R unknown Het
Dst A T 1: 34,223,144 (GRCm39) E1625D probably damaging Het
Egflam T A 15: 7,272,048 (GRCm39) H630L probably benign Het
Elane T C 10: 79,723,593 (GRCm39) V186A possibly damaging Het
Fam209 C A 2: 172,314,689 (GRCm39) N59K probably benign Het
Gbe1 A G 16: 70,325,814 (GRCm39) E617G probably damaging Het
Get3 T C 8: 85,751,789 (GRCm39) S36G probably damaging Het
Gfra1 A G 19: 58,288,707 (GRCm39) L246P probably damaging Het
Gria2 T C 3: 80,618,112 (GRCm39) T308A probably benign Het
Grip2 A T 6: 91,756,831 (GRCm39) V540D probably benign Het
Hhipl1 A T 12: 108,288,118 (GRCm39) I575F possibly damaging Het
Hmcn1 T A 1: 150,614,364 (GRCm39) E1347D possibly damaging Het
Itga2b C A 11: 102,358,165 (GRCm39) A187S probably benign Het
Kalrn C A 16: 33,848,415 (GRCm39) R469M probably damaging Het
Kif23 A T 9: 61,834,666 (GRCm39) C426* probably null Het
Lck T C 4: 129,442,730 (GRCm39) N475S probably benign Het
Leng8 A G 7: 4,148,073 (GRCm39) N642S probably damaging Het
Lingo4 T A 3: 94,310,382 (GRCm39) I440N probably damaging Het
Lrrc4 A G 6: 28,830,904 (GRCm39) F237S probably damaging Het
Magel2 G A 7: 62,028,844 (GRCm39) V583I unknown Het
Naip2 A T 13: 100,281,096 (GRCm39) I1316N probably damaging Het
Naip6 C T 13: 100,437,237 (GRCm39) G429S probably benign Het
Noct C T 3: 51,155,465 (GRCm39) R78C probably damaging Het
Npbwr1 A G 1: 5,987,394 (GRCm39) V40A possibly damaging Het
Nsd2 A G 5: 34,000,746 (GRCm39) N88D probably damaging Het
Or1e29 T A 11: 73,667,539 (GRCm39) I205F probably benign Het
Or5ap2 T A 2: 85,680,744 (GRCm39) V316E probably benign Het
Or6c210 T A 10: 129,496,290 (GRCm39) I205N probably benign Het
Or8k28 T C 2: 86,285,817 (GRCm39) H266R probably benign Het
Pak5 T A 2: 135,958,557 (GRCm39) H177L probably benign Het
Pard3 C T 8: 127,791,097 (GRCm39) probably null Het
Pde4c A G 8: 71,200,007 (GRCm39) probably null Het
Pde6h T A 6: 136,940,203 (GRCm39) I63N probably damaging Het
Phldb2 T C 16: 45,594,558 (GRCm39) K916E possibly damaging Het
Ppig T C 2: 69,571,988 (GRCm39) S236P unknown Het
Ptprd T C 4: 75,872,359 (GRCm39) Y1370C probably damaging Het
Pzp T C 6: 128,493,083 (GRCm39) T352A probably benign Het
Rab3gap1 A G 1: 127,831,456 (GRCm39) Y177C possibly damaging Het
Rasgef1a G A 6: 118,066,157 (GRCm39) V457M probably benign Het
Scel A T 14: 103,848,226 (GRCm39) T616S possibly damaging Het
Sel1l A T 12: 91,793,324 (GRCm39) Y228* probably null Het
Sgms1 A G 19: 32,137,083 (GRCm39) V161A possibly damaging Het
Slfnl1 T C 4: 120,390,424 (GRCm39) L25P probably benign Het
Smad5 A G 13: 56,885,187 (GRCm39) T432A probably damaging Het
Sohlh2 T C 3: 55,099,762 (GRCm39) probably null Het
Sphkap A T 1: 83,254,383 (GRCm39) M835K probably damaging Het
Sqor A C 2: 122,640,018 (GRCm39) T174P probably damaging Het
Stkld1 T C 2: 26,842,759 (GRCm39) V577A probably damaging Het
Sulf2 T A 2: 165,922,773 (GRCm39) E652D probably benign Het
Sycp2 T A 2: 178,019,848 (GRCm39) Q556L probably benign Het
Syk A G 13: 52,765,274 (GRCm39) T134A probably benign Het
Tas2r122 T A 6: 132,688,585 (GRCm39) I103F possibly damaging Het
Tex10 A G 4: 48,451,940 (GRCm39) W729R probably damaging Het
Tex261 G T 6: 83,750,713 (GRCm39) P95T probably damaging Het
Tm2d2 T C 8: 25,507,523 (GRCm39) S47P probably benign Het
Tmem95 A G 11: 69,767,817 (GRCm39) S128P probably damaging Het
Tnxb G A 17: 34,911,553 (GRCm39) A1619T possibly damaging Het
Unc13c T A 9: 73,390,897 (GRCm39) probably null Het
Upb1 A T 10: 75,265,803 (GRCm39) Y210F probably damaging Het
Urb1 T C 16: 90,559,232 (GRCm39) M1684V probably benign Het
Wnk2 G A 13: 49,232,158 (GRCm39) P727S possibly damaging Het
Zfp1004 T A 2: 150,034,867 (GRCm39) M396K probably benign Het
Zfp551 A T 7: 12,150,276 (GRCm39) S378T probably damaging Het
Zfp598 T C 17: 24,888,898 (GRCm39) V56A possibly damaging Het
Zfp945 C T 17: 23,076,223 (GRCm39) 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
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
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'- TTCAGTGGCCAATGGACCAC -3'
(R):5'- TTCCACGTGCAGAAGGAGATC -3'

Sequencing Primer
(F):5'- GGACCACATTTGAACTATCCTTGCAG -3'
(R):5'- AAGGAGATCTACGGTTCCACGC -3'
Posted On 2014-08-25