Mutagenetix > Incidental Mutations

Incidental Mutation 'R1345:Ern2'

156461

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum (ER) to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

039410-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1345 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122169893-122186207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122177770 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 309 (L309P)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000206198]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033153
AA Change: L309P

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

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: L309P

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
PQQ	33	64	5.5e-8	SMART
PQQ	115	147	4.7e-4	SMART
PQQ	148	180	6.1e-2	SMART
PQQ	192	223	6.2e-3	SMART
low complexity region	449	461	N/A	INTRINSIC
S_TKc	508	768	2.5e-11	SMART
PUG	831	888	9e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206198
AA Change: L309P

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 92.3%

Validation Efficiency

100% (45/45)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruption of this gene are generally normal but display an increased susceptibility to intestinal inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,668,718	V129I	probably damaging	Het
Akr1c18	T	C	13: 4,145,214	T82A	possibly damaging	Het
Alx1	A	G	10: 103,028,492	S39P	possibly damaging	Het
Atr	A	G	9: 95,920,355	T1767A	probably benign	Het
Brf1	A	T	12: 112,961,108		probably null	Het
Cd86	A	G	16: 36,618,324		probably null	Het
Cdan1	A	G	2: 120,719,139		probably null	Het
Cntln	A	G	4: 84,973,991	D371G	probably damaging	Het
Cypt4	A	G	9: 24,625,219	T2A	possibly damaging	Het
Dll1	G	T	17: 15,373,555	Y183*	probably null	Het
Dnmt1	G	T	9: 20,908,518	P1444Q	probably damaging	Het
Fam151a	A	G	4: 106,742,294	K142E	probably damaging	Het
Fbn1	T	C	2: 125,314,671	E2378G	probably damaging	Het
Gm9573	T	A	17: 35,621,597		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Kdm5b	A	C	1: 134,630,550	T1432P	possibly damaging	Het
Kif2a	G	A	13: 106,993,915	S15F	probably damaging	Het
Lzic	A	G	4: 149,486,851	E31G	probably damaging	Het
Mmp16	A	G	4: 18,112,021	M466V	probably benign	Het
Mtm1	T	C	X: 71,287,231	V203A	probably benign	Het
Neurl4	A	G	11: 69,903,876	M249V	probably benign	Het
Olfr813	T	C	10: 129,856,890	I124T	probably damaging	Het
Plxna2	T	C	1: 194,644,486	Y243H	probably damaging	Het
Rbm44	A	G	1: 91,152,759	N223S	probably damaging	Het
Sel1l3	G	T	5: 53,200,217	H144Q	possibly damaging	Het
Simc1	A	ANNNNNNNNNNNNNNNNNNNNN	13: 54,525,247		probably benign	Het
Snrpb2	A	G	2: 143,065,166		probably benign	Het
Spata31d1d	T	G	13: 59,726,024	K1232N	possibly damaging	Het
Spink5	A	T	18: 43,990,682	E345D	possibly damaging	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Tarbp1	T	C	8: 126,448,330	D789G	probably benign	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Tmem232	T	C	17: 65,450,406	N264S	possibly damaging	Het
Trim43b	G	C	9: 89,085,672	L303V	possibly damaging	Het
Tulp2	C	A	7: 45,518,721	R298S	probably benign	Het
Usp42	A	G	5: 143,717,333	V511A	probably damaging	Het
Vav1	A	T	17: 57,301,214	T321S	probably benign	Het
Vmn1r169	A	C	7: 23,577,822	H213P	probably damaging	Het
Vmn1r170	C	T	7: 23,606,362	T63I	probably benign	Het
Vmn2r103	T	G	17: 19,794,247	W434G	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp7	T	C	15: 76,890,708	S317P	probably damaging	Het

Other mutations in Ern2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ern2	APN	7	122170092	missense	probably damaging	0.99
IGL01324:Ern2	APN	7	122183190	missense	possibly damaging	0.88
IGL02185:Ern2	APN	7	122173375	splice site	probably benign
IGL02738:Ern2	APN	7	122182899	missense	probably damaging	0.99
IGL02750:Ern2	APN	7	122181406	splice site	probably benign
IGL03247:Ern2	APN	7	122171671	missense	probably benign	0.02
ernie	UTSW	7	122171661	critical splice donor site	probably null
Ernie2	UTSW	7	122180862	splice site	probably benign
ernie3	UTSW	7	122173819	critical splice acceptor site	probably null
R0165:Ern2	UTSW	7	122179779	missense	probably benign	0.02
R0785:Ern2	UTSW	7	122171661	critical splice donor site	probably null
R0801:Ern2	UTSW	7	122180862	splice site	probably benign
R1649:Ern2	UTSW	7	122177400	missense	probably damaging	1.00
R1747:Ern2	UTSW	7	122173819	critical splice acceptor site	probably null
R1747:Ern2	UTSW	7	122173820	critical splice acceptor site	probably null
R1846:Ern2	UTSW	7	122176536	missense	probably benign	0.32
R1899:Ern2	UTSW	7	122183842	splice site	probably benign
R1986:Ern2	UTSW	7	122171529	missense	probably benign	0.06
R2055:Ern2	UTSW	7	122183945	missense	possibly damaging	0.84
R2329:Ern2	UTSW	7	122173487	missense	possibly damaging	0.82
R2351:Ern2	UTSW	7	122171508	missense	probably damaging	0.97
R2894:Ern2	UTSW	7	122181587	missense	possibly damaging	0.94
R3176:Ern2	UTSW	7	122180964	missense	possibly damaging	0.89
R3276:Ern2	UTSW	7	122180964	missense	possibly damaging	0.89
R3945:Ern2	UTSW	7	122176530	missense	probably benign	0.10
R4303:Ern2	UTSW	7	122177846	critical splice acceptor site	probably null
R4874:Ern2	UTSW	7	122176587	missense	probably benign	0.28
R4943:Ern2	UTSW	7	122173258	missense	possibly damaging	0.95
R5184:Ern2	UTSW	7	122179959	missense	probably benign	0.03
R5629:Ern2	UTSW	7	122170166	missense	probably damaging	1.00
R5770:Ern2	UTSW	7	122179907	missense	possibly damaging	0.92
R6255:Ern2	UTSW	7	122173272	missense	probably damaging	1.00
R6272:Ern2	UTSW	7	122176646	missense	probably benign	0.05
R6277:Ern2	UTSW	7	122186107	missense	probably benign
R6624:Ern2	UTSW	7	122177783	missense	probably benign	0.00
R6940:Ern2	UTSW	7	122186146	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTCACCTCATCTGTTGTGGGACC -3'
(R):5'- TGTGGGAGAGTAGGCTTCCTTACC -3'

Sequencing Primer
(F):5'- ATGTGCAAGAAGCCCCTTTC -3'
(R):5'- tgaagggcaactcccaac -3'

Posted On

2014-02-11