Mutagenetix > Incidental Mutations

Incidental Mutation 'R1747:Ern2'

194051

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum (ER) to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

039779-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R1747 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

122169893-122186207 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to A at 122173819 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033153] [ENSMUST00000033154] [ENSMUST00000206198]

Predicted Effect

probably null
Transcript: ENSMUST00000033153

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866

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

probably benign
Transcript: ENSMUST00000033154

SMART Domains

Protein: ENSMUSP00000033154
Gene: ENSMUSG00000030867

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	20	35	N/A	INTRINSIC
S_TKc	53	305	7.36e-95	SMART
low complexity region	354	365	N/A	INTRINSIC
Pfam:POLO_box	418	479	4.4e-24	PFAM
Pfam:POLO_box	516	583	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206198

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (65/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	C	T	8: 13,558,814	S117N	probably damaging	Het
A830010M20Rik	T	C	5: 107,451,999	S119P	probably damaging	Het
Acat3	A	G	17: 12,924,808	I349T	possibly damaging	Het
Add3	A	G	19: 53,242,550	N552S	probably benign	Het
Ak3	G	T	19: 29,022,861	P217T	possibly damaging	Het
Aox2	A	T	1: 58,339,592	D1000V	probably benign	Het
Ap1m2	A	G	9: 21,305,686	M118T	probably damaging	Het
Arhgap28	C	A	17: 67,901,309	A105S	probably benign	Het
Arhgef28	T	C	13: 97,936,824	E1368G	probably damaging	Het
Armc7	G	A	11: 115,488,757	V94I	probably benign	Het
Asxl1	C	A	2: 153,393,454	T223N	possibly damaging	Het
Cltc	T	C	11: 86,707,081	K1078E	probably damaging	Het
Cpne8	G	A	15: 90,584,915	T158I	probably benign	Het
Csn1s2b	T	C	5: 87,816,670		probably benign	Het
Cyp3a59	A	G	5: 146,104,758	I371V	probably benign	Het
Dennd4c	T	C	4: 86,807,438	F710L	probably damaging	Het
Diaph3	T	C	14: 87,073,337	D126G	probably damaging	Het
Dnm3	G	A	1: 162,313,584	R369C	probably damaging	Het
Dst	A	C	1: 34,160,709	Q86P	probably damaging	Het
Exoc6	T	A	19: 37,639,769		probably null	Het
Glg1	G	A	8: 111,197,673	R228C	probably damaging	Het
Gm4736	G	A	6: 132,115,670		noncoding transcript	Het
Hmcn2	G	C	2: 31,457,985	G4881A	probably benign	Het
Htr2a	T	G	14: 74,706,153	F391C	probably damaging	Het
Htr5b	A	T	1: 121,527,918	V91E	probably damaging	Het
Ifi44	T	A	3: 151,749,285	H101L	probably benign	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klhl6	T	A	16: 19,947,028	H608L	probably benign	Het
Lrp4	T	C	2: 91,492,621	V1150A	probably damaging	Het
Lyst	T	C	13: 13,757,422	F3545S	probably benign	Het
Magi3	T	C	3: 104,034,173	D822G	possibly damaging	Het
Nbas	G	A	12: 13,335,898	S721N	probably benign	Het
Nog	T	A	11: 89,301,582	M147L	probably benign	Het
Npr1	C	T	3: 90,458,669	C605Y	possibly damaging	Het
Olfr1053	G	A	2: 86,314,867	L140F	probably benign	Het
Olfr866	A	C	9: 20,027,317	V207G	probably benign	Het
Pgs1	A	G	11: 118,001,631	S10G	probably benign	Het
Pla2g4c	T	C	7: 13,337,730		probably benign	Het
Prdm14	C	T	1: 13,122,403	V371I	possibly damaging	Het
Prom1	C	T	5: 44,007,031	V703I	probably benign	Het
Ptprk	A	G	10: 28,354,692	T260A	possibly damaging	Het
Scnn1g	A	T	7: 121,760,463	I390F	probably damaging	Het
Scrt2	C	T	2: 152,093,718	H264Y	probably damaging	Het
Sel1l3	C	T	5: 53,145,545	E661K	possibly damaging	Het
Skiv2l	G	T	17: 34,847,806	P162H	probably benign	Het
Slc10a5	G	T	3: 10,335,391	Q70K	probably benign	Het
Smg8	A	G	11: 87,085,303	V484A	possibly damaging	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Stag1	T	A	9: 100,888,300	S630T	probably benign	Het
Thyn1	A	C	9: 27,005,213	Q98P	probably damaging	Het
Ttc7	A	G	17: 87,307,015	R203G	possibly damaging	Het
Ttn	T	C	2: 76,878,516		probably benign	Het
Vmn1r236	C	T	17: 21,286,917	S99L	probably benign	Het
Vmn2r50	T	A	7: 10,047,678	H380L	probably benign	Het
Vmn2r73	A	T	7: 85,858,167	C646S	probably damaging	Het
Wnt10b	A	G	15: 98,774,333	S168P	probably benign	Het
Zc3h7a	A	G	16: 11,145,253	M748T	possibly damaging	Het
Zfp804b	C	G	5: 6,770,217	E913Q	probably benign	Het
Zfp974	G	T	7: 27,911,081	F406L	possibly damaging	Het
Zic4	G	A	9: 91,384,146	C274Y	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
R1345:Ern2	UTSW	7	122177770	missense	probably damaging	1.00
R1649:Ern2	UTSW	7	122177400	missense	probably damaging	1.00
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
R7491:Ern2	UTSW	7	122170533	missense	probably damaging	1.00
R7544:Ern2	UTSW	7	122173199	missense	probably benign	0.06
R7555:Ern2	UTSW	7	122170241	missense	probably damaging	1.00
R7843:Ern2	UTSW	7	122173708	missense	probably damaging	1.00
R8281:Ern2	UTSW	7	122170260	missense	probably damaging	1.00
R8321:Ern2	UTSW	7	122173208	missense	probably damaging	1.00
R8377:Ern2	UTSW	7	122181292	nonsense	probably null
R8548:Ern2	UTSW	7	122177839	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTCCAAGGCAATGTAGTGGAAC -3'
(R):5'- CGTGGTGGGGAAGATTTCCTTCAAC -3'

Sequencing Primer
(F):5'- TGGAACTGGGGACCATGC -3'
(R):5'- TTCAACCCCAAGGATGTGCTG -3'

Posted On

2014-05-23