Mutagenetix > Incidental Mutations

Incidental Mutation 'R5751:Emc2'

462723

Institutional Source

Beutler Lab

Gene Symbol

Emc2

Ensembl Gene

ENSMUSG00000022337

Gene Name

ER membrane protein complex subunit 2

Synonyms

MMRRC Submission

043201-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.915) question?

Stock #

R5751 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43477229-43527763 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43497057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022962]

AlphaFold

Q9CRD2

Predicted Effect

probably null
Transcript: ENSMUST00000022962

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337

Domain	Start	End	E-Value	Type
coiled coil region	13	36	N/A	INTRINSIC
Pfam:TPR_2	88	120	6.8e-5	PFAM
Pfam:TPR_19	98	151	5.9e-8	PFAM
Pfam:TPR_19	131	198	3.7e-8	PFAM
Pfam:TPR_2	155	188	2.4e-6	PFAM
Pfam:TPR_8	155	188	1.4e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228864

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,230,832	T1704A	possibly damaging	Het
Adam6a	T	A	12: 113,544,827	D273E	possibly damaging	Het
Adgrv1	T	A	13: 81,522,236	L1610F	probably damaging	Het
Ago2	C	T	15: 73,128,323		probably null	Het
Apob	T	A	12: 8,012,619	Y87*	probably null	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Atp7b	A	G	8: 22,018,128	V599A	probably damaging	Het
Dnah1	T	A	14: 31,310,906	I391F	probably benign	Het
Gbp9	G	T	5: 105,081,258	Q508K	probably benign	Het
Gm853	A	C	4: 130,220,441	V61G	probably benign	Het
Grpel1	C	T	5: 36,469,467	T31M	probably benign	Het
Gtf3c4	C	T	2: 28,827,499	A790T	probably damaging	Het
Hmcn1	A	G	1: 150,573,554	C115R	probably damaging	Het
Ik	G	A	18: 36,753,513	R346H	probably benign	Het
Lhx3	A	G	2: 26,201,161	S379P	probably benign	Het
Mocs1	A	G	17: 49,449,738		probably null	Het
Mycbp2	C	A	14: 103,148,550	V3457F	probably damaging	Het
Olfr1239	A	T	2: 89,417,687	I242N	probably damaging	Het
Olfr128	A	T	17: 37,923,970	I135L	probably benign	Het
Olfr1440	G	A	19: 12,394,416	R51K	probably benign	Het
Orc5	C	T	5: 22,499,971		probably null	Het
Phf20	T	C	2: 156,267,341	S203P	probably benign	Het
Pkd1l1	T	C	11: 8,867,204	S1815G	possibly damaging	Het
Pnpla7	T	C	2: 24,981,778	V11A	probably damaging	Het
Ranbp2	T	C	10: 58,464,264		probably null	Het
Ranbp3l	A	G	15: 9,063,089	D326G	probably damaging	Het
Rsph4a	C	T	10: 33,905,793	A213V	probably damaging	Het
Sema3b	A	G	9: 107,599,714	S570P	probably benign	Het
Spata31d1b	T	A	13: 59,718,973	C1312S	probably benign	Het
Sphkap	G	T	1: 83,275,897	T1377K	probably benign	Het
Stk32a	A	T	18: 43,305,020	R195W	possibly damaging	Het
Tacr2	T	C	10: 62,252,990	I58T	probably damaging	Het
Tmem200c	A	T	17: 68,840,552	K43N	probably damaging	Het
Tnik	T	C	3: 28,594,092	M431T	probably benign	Het
Uckl1	A	G	2: 181,574,452	S167P	possibly damaging	Het
Vmn2r90	A	G	17: 17,733,866	Y764C	probably damaging	Het
Zan	C	T	5: 137,410,161		probably null	Het

Other mutations in Emc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Emc2	APN	15	43511749	missense	probably damaging	1.00
IGL02815:Emc2	APN	15	43507930	splice site	probably benign
IGL03211:Emc2	APN	15	43507672	nonsense	probably null
IGL03238:Emc2	APN	15	43507853	splice site	probably null
R0433:Emc2	UTSW	15	43497124	splice site	probably null
R1965:Emc2	UTSW	15	43527467	missense	probably damaging	1.00
R2373:Emc2	UTSW	15	43513758	missense	probably damaging	1.00
R2507:Emc2	UTSW	15	43511698	critical splice acceptor site	probably null
R4986:Emc2	UTSW	15	43511784	missense	probably benign	0.29
R5212:Emc2	UTSW	15	43510844	missense	probably damaging	1.00
R5368:Emc2	UTSW	15	43511811	critical splice donor site	probably null
R8136:Emc2	UTSW	15	43511806	missense	probably benign	0.07
R9242:Emc2	UTSW	15	43495243	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTTAATGCCACAGTCTCAAAACTC -3'
(R):5'- TTACTAGGGAGCAGGAAATGTC -3'

Sequencing Primer
(F):5'- CCACTGTATGTACATGAAATTAGTGG -3'
(R):5'- CTAGGGAGCAGGAAATGTCTTTAAAG -3'

Posted On

2017-03-01