Mutagenetix > Incidental Mutation

Incidental Mutation 'R3690:Tram2'

269701

Institutional Source

Beutler Lab

Gene Symbol

Tram2

Ensembl Gene

ENSMUSG00000041779

Gene Name

translocating chain-associating membrane protein 2

Synonyms

C330003D03Rik

MMRRC Submission

040685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3690 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21071621-21149449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21075824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 198 (Y198F)

Ref Sequence

ENSEMBL: ENSMUSP00000047992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037998]

AlphaFold

Q924Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037998
AA Change: Y198F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047992
Gene: ENSMUSG00000041779
AA Change: Y198F

Domain	Start	End	E-Value	Type
Pfam:TRAM1	46	110	1.3e-22	PFAM
TLC	112	321	4.2e-60	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187210

Meta Mutation Damage Score

0.2346

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,091,328 (GRCm39)	Y629F	probably benign	Het
Abcb5	T	A	12: 118,836,668 (GRCm39)	D1081V	probably damaging	Het
Afdn	A	G	17: 14,108,671 (GRCm39)	E1398G	probably damaging	Het
Atp8b5	T	C	4: 43,368,055 (GRCm39)	C893R	probably damaging	Het
Avl9	C	T	6: 56,713,812 (GRCm39)	H357Y	probably benign	Het
Bclaf1	C	T	10: 20,201,143 (GRCm39)	T423I	possibly damaging	Het
Btbd19	A	T	4: 116,977,789 (GRCm39)		probably benign	Het
Cap1	A	G	4: 122,758,419 (GRCm39)	S254P	probably damaging	Het
Cdc42ep1	T	C	15: 78,731,629 (GRCm39)	S25P	probably benign	Het
Cln6	T	C	9: 62,754,252 (GRCm39)	I98T	possibly damaging	Het
Cul9	T	C	17: 46,814,957 (GRCm39)		probably null	Het
Dcx	T	C	X: 142,660,240 (GRCm39)	E268G	possibly damaging	Het
Ddias	G	A	7: 92,509,366 (GRCm39)	P183L	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
Dusp16	C	T	6: 134,738,082 (GRCm39)		probably benign	Het
Egfr	T	C	11: 16,821,881 (GRCm39)		probably benign	Het
Fam171a1	T	C	2: 3,227,393 (GRCm39)	V842A	probably benign	Het
Folr1	T	C	7: 101,507,745 (GRCm39)	S232G	probably benign	Het
Foxj3	T	C	4: 119,473,839 (GRCm39)		probably benign	Het
Fpr-rs6	T	C	17: 20,403,137 (GRCm39)	M75V	probably benign	Het
Fxyd5	G	T	7: 30,735,864 (GRCm39)	L128M	possibly damaging	Het
Gigyf2	T	C	1: 87,349,238 (GRCm39)	S500P	possibly damaging	Het
Inppl1	A	G	7: 101,481,275 (GRCm39)	L268P	probably damaging	Het
Klk1b24	A	T	7: 43,841,243 (GRCm39)	H192L	probably benign	Het
Llgl1	T	G	11: 60,597,828 (GRCm39)	Y316D	probably damaging	Het
Lmbrd1	T	A	1: 24,801,374 (GRCm39)	*143R	probably null	Het
Map3k15	T	A	X: 158,905,568 (GRCm39)	N1295K	possibly damaging	Het
Mcm3ap	A	G	10: 76,318,513 (GRCm39)	E678G	probably damaging	Het
Mrpl44	T	A	1: 79,757,366 (GRCm39)	Y270*	probably null	Het
Nav1	T	A	1: 135,395,382 (GRCm39)	I996L	probably benign	Het
Neb	T	C	2: 52,027,397 (GRCm39)	E6868G	probably damaging	Het
Nexmif	A	T	X: 103,131,213 (GRCm39)	Y235N	probably damaging	Het
Nup50	C	T	15: 84,823,994 (GRCm39)	T449M	probably damaging	Het
Or14a256	G	A	7: 86,265,686 (GRCm39)	P56S	probably damaging	Het
Or2b6	A	G	13: 21,823,508 (GRCm39)	F62L	probably damaging	Het
Or51aa2	T	C	7: 103,188,274 (GRCm39)	T56A	probably benign	Het
Or52e8b	A	G	7: 104,673,902 (GRCm39)	L95P	probably damaging	Het
Or52n2	T	C	7: 104,542,724 (GRCm39)	Y37C	possibly damaging	Het
Pald1	A	T	10: 61,191,587 (GRCm39)		probably null	Het
Pde11a	T	A	2: 76,121,510 (GRCm39)	K357I	probably damaging	Het
Ric3	A	G	7: 108,637,817 (GRCm39)	V312A	possibly damaging	Het
Scaper	C	T	9: 55,791,205 (GRCm39)	G231D	probably benign	Het
Smc1b	T	A	15: 85,001,464 (GRCm39)		probably benign	Het
Smcr8	A	G	11: 60,668,854 (GRCm39)	M1V	probably null	Het
Smtn	T	C	11: 3,477,687 (GRCm39)		probably benign	Het
Spatc1	A	T	15: 76,152,495 (GRCm39)	K42*	probably null	Het
Taf7l	A	T	X: 133,365,074 (GRCm39)	I449K	probably damaging	Het
Tex47	A	G	5: 7,354,777 (GRCm39)		probably benign	Het
Ttn	C	G	2: 76,629,588 (GRCm39)	W14284C	probably damaging	Het
Ube3a	A	G	7: 58,926,547 (GRCm39)	K442E	probably damaging	Het
Vmn2r116	T	A	17: 23,603,798 (GRCm39)	F8I	unknown	Het
Vmn2r59	A	G	7: 41,661,370 (GRCm39)	F815S	possibly damaging	Het
Zap70	T	C	1: 36,820,493 (GRCm39)	C563R	probably damaging	Het
Zfp579	T	C	7: 4,997,719 (GRCm39)	H64R	probably damaging	Het

Other mutations in Tram2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01860:Tram2	APN	1	21,074,083 (GRCm39)	missense	possibly damaging	0.90
R0057:Tram2	UTSW	1	21,076,378 (GRCm39)	missense	probably damaging	0.98
R0299:Tram2	UTSW	1	21,074,468 (GRCm39)	missense	probably damaging	0.99
R1633:Tram2	UTSW	1	21,074,146 (GRCm39)	missense	probably damaging	0.99
R1703:Tram2	UTSW	1	21,074,458 (GRCm39)	missense	probably damaging	0.96
R2032:Tram2	UTSW	1	21,074,180 (GRCm39)	missense	probably null	0.98
R3859:Tram2	UTSW	1	21,074,204 (GRCm39)	missense	probably damaging	1.00
R4583:Tram2	UTSW	1	21,083,673 (GRCm39)	missense	probably benign	0.01
R6022:Tram2	UTSW	1	21,149,361 (GRCm39)	start gained	probably benign
R6432:Tram2	UTSW	1	21,074,457 (GRCm39)	missense	possibly damaging	0.63
R8209:Tram2	UTSW	1	21,075,801 (GRCm39)	missense	probably damaging	1.00
R8972:Tram2	UTSW	1	21,074,273 (GRCm39)	intron	probably benign
R9438:Tram2	UTSW	1	21,075,834 (GRCm39)	missense	possibly damaging	0.58
R9510:Tram2	UTSW	1	21,074,150 (GRCm39)	missense	possibly damaging	0.88
X0058:Tram2	UTSW	1	21,149,327 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTACTGCCTGTATTCCCAAG -3'
(R):5'- ACCAGTCTTGAATCTGCTGC -3'

Sequencing Primer
(F):5'- TGCCTGTATTCCCAAGGTAGCAAG -3'
(R):5'- AGTCTTGAATCTGCTGCCTCGG -3'

Posted On

2015-02-19