Mutagenetix > Incidental Mutation

Incidental Mutation 'R8209:Tram2'

636035

Institutional Source

Beutler Lab

Gene Symbol

Tram2

Ensembl Gene

ENSMUSG00000041779

Gene Name

translocating chain-associating membrane protein 2

Synonyms

C330003D03Rik

MMRRC Submission

067632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21071621-21149449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21075801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 206 (Y206D)

Ref Sequence

ENSEMBL: ENSMUSP00000047992 (fasta)

Gene Model

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

AlphaFold

Q924Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000037998
AA Change: Y206D

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

SMART Domains

Protein: ENSMUSP00000047992
Gene: ENSMUSG00000041779
AA Change: Y206D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Alx4	T	C	2: 93,505,696 (GRCm39)	M266T	possibly damaging	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Clec4a1	A	G	6: 122,907,773 (GRCm39)	S154G	probably damaging	Het
Col11a2	T	C	17: 34,266,253 (GRCm39)		probably null	Het
Dnaaf2	A	T	12: 69,244,866 (GRCm39)	V65E	probably damaging	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Dsg1b	A	G	18: 20,541,947 (GRCm39)	Y818C	probably benign	Het
Dzip3	C	T	16: 48,798,307 (GRCm39)	G133S	probably damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Eprs1	A	G	1: 185,139,812 (GRCm39)	E967G	possibly damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Gart	T	C	16: 91,425,041 (GRCm39)	I661V	possibly damaging	Het
Gm14295	T	A	2: 176,502,970 (GRCm39)	I820K	unknown	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
Gria2	A	G	3: 80,616,764 (GRCm39)	V396A	probably benign	Het
Il17rc	C	A	6: 113,449,771 (GRCm39)	Q126K	probably benign	Het
Ipo8	A	G	6: 148,698,176 (GRCm39)	I615T	possibly damaging	Het
Irak4	T	A	15: 94,456,244 (GRCm39)	L277Q	probably damaging	Het
Islr	T	C	9: 58,065,340 (GRCm39)	S56G	probably damaging	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Phc2	T	C	4: 128,603,299 (GRCm39)	L143P	probably benign	Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Rnf130	T	C	11: 49,962,097 (GRCm39)	V181A	probably benign	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Slco1a5	T	G	6: 142,208,408 (GRCm39)	N128H	probably damaging	Het
Smg5	C	T	3: 88,258,838 (GRCm39)	A603V	probably benign	Het
Svs3b	T	A	2: 164,098,140 (GRCm39)	E60D	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,844 (GRCm39)	M263K	probably benign	Het
Tmem150b	A	G	7: 4,723,691 (GRCm39)	L162P	probably damaging	Het
Tmprss11f	A	G	5: 86,687,566 (GRCm39)	V114A	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Vmn2r1	A	G	3: 63,997,199 (GRCm39)	D285G	possibly damaging	Het
Zfp536	A	T	7: 37,268,080 (GRCm39)	S445R	probably benign	Het
Zfp606	A	T	7: 12,227,234 (GRCm39)	T452S	probably benign	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
R3690:Tram2	UTSW	1	21,075,824 (GRCm39)	missense	probably damaging	1.00
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
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'- AGACTGTCTTTCCTACCAGTTG -3'
(R):5'- TCTGGTGTGACATGGAACCG -3'

Sequencing Primer
(F):5'- TCTTTCCTACCAGTTGGAGAATG -3'
(R):5'- CCGTGGGAGTATGGAGACCTG -3'

Posted On

2020-07-13