Mutagenetix > Incidental Mutation

Incidental Mutation 'R1454:Trappc9'

162226

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

039509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1454 (G1)

Quality Score

184

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: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.2%

Validation Efficiency

97% (58/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,666,881 (GRCm39)	V537A	possibly damaging	Het
Adcy10	A	T	1: 165,342,949 (GRCm39)	I272F	possibly damaging	Het
Adcy6	A	G	15: 98,502,609 (GRCm39)	S2P	probably damaging	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,155,928 (GRCm39)	V116A	probably benign	Het
Ankdd1b	A	T	13: 96,569,913 (GRCm39)		probably null	Het
Antxrl	G	A	14: 33,782,906 (GRCm39)	V233I	probably damaging	Het
Atp8b5	A	G	4: 43,302,590 (GRCm39)	I38V	probably benign	Het
Atxn7l2	A	G	3: 108,115,748 (GRCm39)		probably benign	Het
Bfsp2	A	T	9: 103,357,424 (GRCm39)	M1K	probably null	Het
Camsap3	T	A	8: 3,653,968 (GRCm39)	I520N	possibly damaging	Het
Cenpc1	C	T	5: 86,161,369 (GRCm39)	V854I	possibly damaging	Het
Csnk2a1	T	C	2: 152,099,347 (GRCm39)	L88S	probably damaging	Het
Dcaf17	A	G	2: 70,903,517 (GRCm39)	N171D	probably damaging	Het
Dctn1	G	C	6: 83,174,490 (GRCm39)	A1077P	possibly damaging	Het
Dock1	T	C	7: 134,453,338 (GRCm39)		probably benign	Het
Egfr	A	T	11: 16,839,920 (GRCm39)	I645L	probably benign	Het
Gdpd1	T	G	11: 86,950,335 (GRCm39)	K79N	possibly damaging	Het
Ggt5	A	T	10: 75,445,742 (GRCm39)	L432F	probably benign	Het
Gm11060	A	G	2: 104,924,097 (GRCm39)	T22A	unknown	Het
Gpr132	G	A	12: 112,815,860 (GRCm39)	T322I	possibly damaging	Het
Grin1	G	A	2: 25,182,442 (GRCm39)	R940*	probably null	Het
Hip1	T	C	5: 135,467,486 (GRCm39)	T316A	probably benign	Het
Hnrnpm	A	G	17: 33,885,462 (GRCm39)		probably benign	Het
Hsd3b5	G	A	3: 98,526,846 (GRCm39)	T200I	probably benign	Het
Hspa9	A	T	18: 35,071,659 (GRCm39)	L647H	probably damaging	Het
Itgad	T	C	7: 127,791,309 (GRCm39)	I727T	probably benign	Het
Kcnma1	T	C	14: 23,513,268 (GRCm39)	D522G	probably damaging	Het
Lipf	C	T	19: 33,948,132 (GRCm39)		probably benign	Het
Ly6i	T	C	15: 74,854,904 (GRCm39)	D2G	possibly damaging	Het
Mast1	G	A	8: 85,647,264 (GRCm39)	P631L	probably damaging	Het
Mmp1b	G	C	9: 7,386,693 (GRCm39)	L144V	probably damaging	Het
Msh6	A	G	17: 88,292,186 (GRCm39)	S314G	probably benign	Het
Myo5c	G	A	9: 75,170,348 (GRCm39)	V493I	possibly damaging	Het
Nefm	A	G	14: 68,358,828 (GRCm39)	L402P	probably damaging	Het
Nrxn2	T	C	19: 6,531,476 (GRCm39)	F697S	probably damaging	Het
Or13c7b	A	T	4: 43,820,639 (GRCm39)	C241S	probably damaging	Het
Pex13	A	G	11: 23,599,422 (GRCm39)	I363T	probably benign	Het
Plcb3	T	C	19: 6,932,414 (GRCm39)	R1082G	possibly damaging	Het
Psg28	A	T	7: 18,161,889 (GRCm39)	S205T	possibly damaging	Het
Pxt1	C	A	17: 29,153,756 (GRCm39)	V26L	possibly damaging	Het
Ripk2	G	A	4: 16,163,239 (GRCm39)	T53M	probably damaging	Het
Slc5a9	A	G	4: 111,741,161 (GRCm39)	V495A	probably benign	Het
Snrpa	T	C	7: 26,892,362 (GRCm39)	K66R	probably benign	Het
Srgap1	T	A	10: 121,732,643 (GRCm39)	E145V	probably damaging	Het
Suz12	A	G	11: 79,922,939 (GRCm39)	T694A	probably benign	Het
Tatdn2	T	A	6: 113,681,288 (GRCm39)	D440E	probably benign	Het
Tbc1d21	A	G	9: 58,270,096 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,034 (GRCm39)	Y570*	probably null	Het
Tbc1d32	A	T	10: 56,053,575 (GRCm39)		probably benign	Het
Tdrd5	G	C	1: 156,087,406 (GRCm39)	Q839E	probably benign	Het
Tecpr2	A	G	12: 110,935,387 (GRCm39)	N1402S	probably benign	Het
Thbs1	A	G	2: 117,953,153 (GRCm39)	D921G	probably damaging	Het
Tll1	A	G	8: 64,491,524 (GRCm39)	V803A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm4	T	C	7: 44,966,480 (GRCm39)	E461G	probably damaging	Het
Zp3	T	A	5: 136,013,042 (GRCm39)	I152N	probably 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
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
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'- GGCAAGCATCTCACAAGTGACAAAG -3'
(R):5'- TTGTGCCCGTTAAGACAGACCCTC -3'

Sequencing Primer
(F):5'- caaatcccagcaaccacac -3'
(R):5'- TCGGAAATAGCTTTCCCCGAG -3'

Posted On

2014-03-14