Incidental Mutation 'R6154:Trappc9'
ID 489480
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 044301-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6154 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 72461469-72933053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72929930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 142 (D142G)
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 benign
Transcript: ENSMUST00000023276
SMART Domains Protein: ENSMUSP00000023276
Gene: ENSMUSG00000047921

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 2 920 3.6e-239 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089770
AA Change: D142G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000087202
Gene: ENSMUSG00000047921
AA Change: D142G

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: D142G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000131295
Gene: ENSMUSG00000047921
AA Change: D142G

DomainStartEndE-ValueType
Pfam:TRAPPC9-Trs120 1 810 3.7e-222 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170633
AA Change: D142G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000131997
Gene: ENSMUSG00000047921
AA Change: D142G

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 benign
Transcript: ENSMUST00000228960
AA Change: D142G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230025
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230270
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 97% (70/72)
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
Acss3 T G 10: 106,959,210 (GRCm39) I79L probably benign Het
Adam6a C T 12: 113,509,292 (GRCm39) T555I probably benign Het
Adap1 A G 5: 139,293,531 (GRCm39) V60A possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Angpt1 T C 15: 42,387,051 (GRCm39) E101G probably damaging Het
Asxl2 T C 12: 3,546,593 (GRCm39) V459A possibly damaging Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Camta2 G A 11: 70,569,211 (GRCm39) A578V probably damaging Het
Cdc16 A G 8: 13,818,609 (GRCm39) N316D possibly damaging Het
Chrm3 T A 13: 9,928,476 (GRCm39) M187L possibly damaging Het
Clcn4 T C 7: 7,294,481 (GRCm39) T367A probably benign Het
Clcn7 T C 17: 25,376,928 (GRCm39) S654P probably damaging Het
Col6a3 T A 1: 90,701,387 (GRCm39) T2510S unknown Het
Crisp4 T C 1: 18,193,012 (GRCm39) E192G possibly damaging Het
Dmbt1 T A 7: 130,711,370 (GRCm39) probably null Het
Dnah5 T G 15: 28,204,177 (GRCm39) L18R probably benign Het
Dnah9 T G 11: 65,746,164 (GRCm39) D3983A probably benign Het
Dock5 C A 14: 68,097,361 (GRCm39) V71L probably benign Het
Dync1h1 T C 12: 110,584,427 (GRCm39) V610A probably damaging Het
Dynlrb2 A G 8: 117,242,428 (GRCm39) Y86C probably benign Het
Ep400 T C 5: 110,903,799 (GRCm39) I267V probably damaging Het
Gaa A G 11: 119,169,178 (GRCm39) Y575C probably damaging Het
Gm8094 T A 14: 42,934,020 (GRCm39) D24V probably benign Het
Grina T C 15: 76,133,087 (GRCm39) I244T possibly damaging Het
Haus6 A G 4: 86,501,993 (GRCm39) L626P possibly damaging Het
Hexd A T 11: 121,112,097 (GRCm39) H439L probably benign Het
Ifna12 A T 4: 88,521,531 (GRCm39) C5* probably null Het
Igf2bp2 G T 16: 21,894,843 (GRCm39) S300* probably null Het
Ighv6-5 T C 12: 114,380,362 (GRCm39) R71G probably benign Het
Lrrc37 A G 11: 103,504,969 (GRCm39) V2333A probably benign Het
Lrrn4cl T C 19: 8,829,252 (GRCm39) S77P probably damaging Het
Mast4 A G 13: 102,923,929 (GRCm39) L302P probably damaging Het
Mink1 T C 11: 70,500,927 (GRCm39) V831A possibly damaging Het
Mme T A 3: 63,207,674 (GRCm39) I40N probably damaging Het
Myh2 A G 11: 67,077,438 (GRCm39) T858A probably benign Het
Ncbp3 T A 11: 72,940,700 (GRCm39) Y67N probably damaging Het
Nedd1 T A 10: 92,534,104 (GRCm39) I349F possibly damaging Het
Nek11 A T 9: 105,200,368 (GRCm39) *81K probably null Het
Nrip1 A G 16: 76,090,718 (GRCm39) Y280H probably damaging Het
Obsl1 T C 1: 75,476,788 (GRCm39) D722G probably benign Het
Or10ag55-ps1 T G 2: 87,139,902 (GRCm39) S256R probably benign Het
Or2m12 A T 16: 19,105,181 (GRCm39) I104K probably damaging Het
Or4c29 A G 2: 88,740,734 (GRCm39) M1T probably null Het
Or5i1 A G 2: 87,613,100 (GRCm39) D72G possibly damaging Het
Or6c7 C T 10: 129,323,545 (GRCm39) T222I probably damaging Het
Pcdhb6 A G 18: 37,467,966 (GRCm39) I296V probably benign Het
Pcnx2 G T 8: 126,489,552 (GRCm39) L1681M probably damaging Het
Pdlim5 T C 3: 141,983,674 (GRCm39) R360G possibly damaging Het
Peli2 C T 14: 48,488,051 (GRCm39) Q81* probably null Het
Pitpnb C T 5: 111,486,263 (GRCm39) Q56* probably null Het
Ppp1r3a A G 6: 14,754,603 (GRCm39) S215P possibly damaging Het
Prrt3 A G 6: 113,471,989 (GRCm39) Y728H probably damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sbno1 T C 5: 124,516,542 (GRCm39) H1277R possibly damaging Het
Siglecg C A 7: 43,061,441 (GRCm39) N481K possibly damaging Het
Sirt6 C T 10: 81,462,339 (GRCm39) G20D probably damaging Het
Sit1 C A 4: 43,482,981 (GRCm39) R89S probably benign Het
Slc7a12 A G 3: 14,546,094 (GRCm39) R80G probably damaging Het
Smok3c T A 5: 138,062,747 (GRCm39) M78K probably benign Het
Stk10 T A 11: 32,553,654 (GRCm39) probably null Het
Tada2b A G 5: 36,634,008 (GRCm39) V190A probably damaging Het
Tnk1 C T 11: 69,747,780 (GRCm39) V41I probably damaging Het
Tpr T A 1: 150,299,567 (GRCm39) V1146E probably benign Het
Trpm3 T C 19: 22,965,178 (GRCm39) Y1558H probably damaging Het
Unc5c C A 3: 141,383,914 (GRCm39) S97R probably damaging Het
Vmn1r172 T C 7: 23,359,583 (GRCm39) I156T probably damaging Het
Vmn2r51 A T 7: 9,821,921 (GRCm39) M588K possibly damaging Het
Vps26a T G 10: 62,304,119 (GRCm39) E117D probably damaging Het
Zfp451 A T 1: 33,842,627 (GRCm39) probably benign Het
Zfp534 C A 4: 147,759,145 (GRCm39) R508I probably benign Het
Zp3r C T 1: 130,526,642 (GRCm39) C187Y probably damaging 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
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'- TGCTTTGTAAGGAGGACCCAAG -3'
(R):5'- TCATCACCATCACCGATTGC -3'

Sequencing Primer
(F):5'- AGGGCTTCTAGGTCAACCATTC -3'
(R):5'- GATTGCTTCTCGCCCAAAGACTG -3'
Posted On 2017-10-10