Incidental Mutation 'R1563:Trappc9'
ID 170791
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 039602-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1563 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72897816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 377 (R377W)
Ref Sequence ENSEMBL: ENSMUSP00000131997 (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: R189W

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921
AA Change: R189W

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089770
AA Change: R368W

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: R368W

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: R368W

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: R368W

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170633
AA Change: R377W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: R377W

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 possibly damaging
Transcript: ENSMUST00000228960
AA Change: R368W

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
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: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 98% (82/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,001,569 (GRCm39) M22T probably benign Het
A930018M24Rik A G 14: 51,134,576 (GRCm39) L22P probably damaging Het
Aipl1 A T 11: 71,927,538 (GRCm39) M59K probably damaging Het
Atg2b T C 12: 105,589,747 (GRCm39) I1835V probably damaging Het
Cacna1i A T 15: 80,274,056 (GRCm39) probably benign Het
Cacna1i T C 15: 80,205,389 (GRCm39) V115A probably damaging Het
Catsperb T A 12: 101,554,361 (GRCm39) M685K probably damaging Het
Cdh10 T A 15: 18,986,853 (GRCm39) Y361* probably null Het
Clcn4 C T 7: 7,296,981 (GRCm39) C219Y probably damaging Het
Cpeb2 G A 5: 43,443,080 (GRCm39) V924M probably damaging Het
Cpxm2 T C 7: 131,745,411 (GRCm39) E138G probably benign Het
Dennd1a T C 2: 37,748,441 (GRCm39) Y346C probably damaging Het
Dnah8 T A 17: 30,854,638 (GRCm39) L100Q probably benign Het
Dnajc6 A C 4: 101,456,334 (GRCm39) N76T probably damaging Het
Ehbp1 A G 11: 22,009,231 (GRCm39) L954P probably damaging Het
Eral1 A T 11: 77,966,232 (GRCm39) D315E probably benign Het
Fbln2 G T 6: 91,240,365 (GRCm39) E724* probably null Het
Fyco1 A G 9: 123,656,247 (GRCm39) probably benign Het
Fzd3 T A 14: 65,473,173 (GRCm39) E198D probably damaging Het
Fzd9 T C 5: 135,279,408 (GRCm39) N159S probably damaging Het
Galnt6 T A 15: 100,601,259 (GRCm39) Q340L probably benign Het
Gm20939 C T 17: 95,184,522 (GRCm39) A390V probably damaging Het
Gm5435 T G 12: 82,542,464 (GRCm39) noncoding transcript Het
Gm9949 A C 18: 62,317,089 (GRCm39) probably benign Het
Gprc5b G A 7: 118,582,984 (GRCm39) T295I probably benign Het
Gria2 G T 3: 80,598,704 (GRCm39) Q777K probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Haao T C 17: 84,142,318 (GRCm39) T174A probably benign Het
Hes6 A T 1: 91,340,858 (GRCm39) M1K probably null Het
Hook3 G T 8: 26,600,780 (GRCm39) Q43K probably benign Het
Klhl35 T C 7: 99,120,902 (GRCm39) V390A probably damaging Het
Myh9 G T 15: 77,656,057 (GRCm39) T1151K probably damaging Het
Nbn A T 4: 15,981,668 (GRCm39) I587F possibly damaging Het
Nek4 A G 14: 30,704,408 (GRCm39) D696G probably damaging Het
Niban1 A T 1: 151,591,424 (GRCm39) Y522F possibly damaging Het
Nlrp2 T C 7: 5,311,724 (GRCm39) D52G probably damaging Het
Oit3 G T 10: 59,263,896 (GRCm39) R413S probably damaging Het
Or4k48 T A 2: 111,476,027 (GRCm39) H105L probably damaging Het
Or6c1b A G 10: 129,273,580 (GRCm39) M300V probably benign Het
Otof T C 5: 30,528,349 (GRCm39) T1870A probably benign Het
Pdgfd T C 9: 6,293,939 (GRCm39) probably null Het
Pitrm1 T C 13: 6,613,506 (GRCm39) V526A possibly damaging Het
Pknox1 T C 17: 31,814,256 (GRCm39) S194P probably damaging Het
Plekhg5 T C 4: 152,181,266 (GRCm39) S8P probably benign Het
Ppp1r13b T C 12: 111,807,416 (GRCm39) E157G probably damaging Het
Psmd3 C T 11: 98,585,051 (GRCm39) R466W probably damaging Het
Ptgfrn A G 3: 100,967,967 (GRCm39) F542S possibly damaging Het
Ptgs1 A T 2: 36,135,214 (GRCm39) M393L possibly damaging Het
Qpct T A 17: 79,371,492 (GRCm39) S87T probably benign Het
Qtrt1 T A 9: 21,330,607 (GRCm39) V269D probably benign Het
Rassf9 C G 10: 102,380,821 (GRCm39) R68G probably damaging Het
Relch A G 1: 105,647,259 (GRCm39) Y707C probably damaging Het
Rif1 A G 2: 51,963,235 (GRCm39) E25G probably damaging Het
Rnf213 T C 11: 119,305,352 (GRCm39) F528L probably benign Het
Sgip1 T C 4: 102,823,457 (GRCm39) S693P probably benign Het
She A G 3: 89,761,921 (GRCm39) D460G probably benign Het
Sipa1l1 G T 12: 82,387,935 (GRCm39) V54L probably benign Het
Slc8a3 T A 12: 81,251,781 (GRCm39) D640V possibly damaging Het
Smurf1 T A 5: 144,819,323 (GRCm39) E601D probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Synpo2l A G 14: 20,711,346 (GRCm39) S425P probably damaging Het
Tbck T C 3: 132,421,454 (GRCm39) V187A possibly damaging Het
Tcf23 A T 5: 31,126,175 (GRCm39) H18L probably benign Het
Tcp11l2 A G 10: 84,420,808 (GRCm39) S16G probably damaging Het
Tekt2 T A 4: 126,217,200 (GRCm39) M233L probably benign Het
Tex14 T C 11: 87,427,634 (GRCm39) S29P probably damaging Het
Tjp2 T A 19: 24,110,067 (GRCm39) N59I probably damaging Het
Tlr5 G A 1: 182,802,575 (GRCm39) M626I probably benign Het
Tnn A T 1: 159,952,985 (GRCm39) V685D probably damaging Het
Trhr G A 15: 44,060,497 (GRCm39) V6I probably benign Het
Trim30c C T 7: 104,032,158 (GRCm39) R301Q probably benign Het
Usp51 T C X: 151,790,988 (GRCm39) I194T probably benign Het
Vmn2r63 A G 7: 42,553,550 (GRCm39) S569P probably benign Het
Vps26a T G 10: 62,300,459 (GRCm39) I236L probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zcchc14 T C 8: 122,330,718 (GRCm39) M882V probably benign Het
Zfhx2 A G 14: 55,302,545 (GRCm39) V1813A probably benign Het
Zswim2 C T 2: 83,745,626 (GRCm39) G604D possibly damaging Het
Zzef1 C T 11: 72,739,559 (GRCm39) Q669* 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
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
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'- GCATCTCACAAGTGACAAAGGCAAG -3'
(R):5'- TTGTGCCCGTTAAGACAGACCCTC -3'

Sequencing Primer
(F):5'- caaatcccagcaaccacac -3'
(R):5'- TCGGAAATAGCTTTCCCCGAG -3'
Posted On 2014-04-13