Mutagenetix > Incidental Mutation

Incidental Mutation 'R3124:Trappc9'

264211

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

040597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3124 (G1)

Quality Score

225

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (40/40)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	G	A	2: 181,136,319 (GRCm39)	R407H	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Cadm1	A	G	9: 47,710,775 (GRCm39)	E226G	possibly damaging	Het
Caskin2	T	C	11: 115,695,623 (GRCm39)	D246G	probably damaging	Het
Cd80	T	A	16: 38,294,255 (GRCm39)	V46E	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Drd3	T	C	16: 43,643,155 (GRCm39)	F464L	probably damaging	Het
Dyrk1a	G	A	16: 94,469,660 (GRCm39)		probably benign	Het
Fam227b	T	C	2: 125,966,006 (GRCm39)	T140A	probably benign	Het
Fam91a1	A	G	15: 58,293,738 (GRCm39)	I101V	probably benign	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Glra3	A	G	8: 56,578,244 (GRCm39)	R434G	possibly damaging	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Iglc3	T	C	16: 18,884,345 (GRCm39)		probably benign	Het
Khdrbs2	C	A	1: 32,558,858 (GRCm39)	R408L	probably damaging	Het
Loxhd1	A	G	18: 77,518,774 (GRCm39)	D1860G	probably damaging	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Myo1h	A	G	5: 114,466,860 (GRCm39)	I303V	probably benign	Het
Nipsnap2	G	A	5: 129,825,098 (GRCm39)		probably null	Het
Nop2	G	A	6: 125,109,164 (GRCm39)		probably benign	Het
Polr2a	A	T	11: 69,626,536 (GRCm39)	S1566T	possibly damaging	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Ralgps1	T	C	2: 33,048,968 (GRCm39)	T314A	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Skil	A	G	3: 31,151,487 (GRCm39)	N3S	probably benign	Het
Tas2r129	A	G	6: 132,928,411 (GRCm39)	N116S	probably damaging	Het
Tas2r140	T	A	6: 133,032,204 (GRCm39)	I185L	probably benign	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trim12a	G	T	7: 103,950,063 (GRCm39)	T292K	probably benign	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Trmt13	T	C	3: 116,383,893 (GRCm39)	I104V	probably benign	Het
Vav3	G	A	3: 109,535,484 (GRCm39)		probably null	Het
Vmn1r87	A	G	7: 12,865,493 (GRCm39)	Y265H	probably damaging	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het

Other mutations in Trappc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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	72,673,150 (GRCm39)	small insertion	probably benign
RF049:Trappc9	UTSW	15	72,673,155 (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'- GCTGCAGGAACCAGTTATTATTCC -3'
(R):5'- ATAGCTTTCCCCGAGGGTATC -3'

Sequencing Primer
(F):5'- GAAAGTCCTGTGTTCAAATCCCAG -3'
(R):5'- CCTTGGTGGCAGCTTCCTG -3'

Posted On

2015-02-05