Mutagenetix > Incidental Mutations

Incidental Mutation 'R6940:Ern2'

540501

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum (ER) to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R6940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122169893-122186207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122186146 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 3 (R3G)

Ref Sequence

ENSEMBL: ENSMUSP00000145716 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033153
AA Change: R3G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: R3G

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: ENSMUST00000206198
AA Change: R3G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	C	A	9: 54,609,097	A667S	probably benign	Het
Ank2	G	A	3: 126,941,972		probably benign	Het
Arhgef28	A	G	13: 97,965,530	L812P	possibly damaging	Het
Armc5	C	T	7: 128,240,298	R263*	probably null	Het
Cadps2	A	T	6: 23,302,492	V740E	probably damaging	Het
Cckbr	T	C	7: 105,434,896	V279A	probably benign	Het
Cd101	T	C	3: 101,003,702	D880G	probably damaging	Het
Cep350	A	T	1: 155,928,551	S929T	probably benign	Het
Chaf1b	G	A	16: 93,905,965	R556H	probably benign	Het
Csn1s1	A	T	5: 87,675,023	Q69L	possibly damaging	Het
Dennd1b	T	C	1: 139,053,417		probably null	Het
Dnah11	T	C	12: 118,198,768	D22G	probably benign	Het
Dnah7a	T	C	1: 53,631,677	H472R	probably benign	Het
Dnah7b	G	A	1: 46,119,268	R337H	probably benign	Het
Eif2ak3	T	C	6: 70,892,402	V691A	possibly damaging	Het
Fat3	T	C	9: 15,916,800		probably null	Het
Fnbp4	T	C	2: 90,745,514	F20L	unknown	Het
Gm9573	C	A	17: 35,623,226		probably benign	Het
Gtf2b	C	A	3: 142,778,255	D63E	probably damaging	Het
Hydin	A	G	8: 110,490,611	Y1377C	probably damaging	Het
Klf1	A	G	8: 84,902,095	T41A	possibly damaging	Het
Lce3d	G	A	3: 92,958,234	S52N	unknown	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrfip1	T	A	1: 91,122,413		probably null	Het
Ltbp4	A	C	7: 27,308,944	V1313G	probably damaging	Het
Morc1	C	A	16: 48,479,845	S235*	probably null	Het
Mr1	T	G	1: 155,129,268	*342S	probably null	Het
Nol4l	T	A	2: 153,411,764	S630C	probably benign	Het
Nr4a3	C	T	4: 48,051,486	P80L	probably benign	Het
Olfr644	A	G	7: 104,068,413	I206T	possibly damaging	Het
Otof	A	G	5: 30,371,643	V1807A	probably damaging	Het
Pde5a	T	A	3: 122,779,032	V354E	possibly damaging	Het
Pmfbp1	A	T	8: 109,525,191	E355D	probably damaging	Het
Ppp2r2c	A	G	5: 36,927,531	D112G	probably damaging	Het
Prkacb	A	T	3: 146,751,499	I37N	probably damaging	Het
Prox2	T	C	12: 85,094,574	D285G	probably benign	Het
Ranbp3l	A	G	15: 9,011,919	S61G	probably benign	Het
Rnf214	T	A	9: 45,890,898	T289S	probably damaging	Het
Rnf217	G	T	10: 31,505,977		probably null	Het
Sc5d	A	T	9: 42,255,427	M272K	probably benign	Het
Slco6c1	T	C	1: 97,072,901	T542A	possibly damaging	Het
Sord	T	A	2: 122,264,055	I308N	probably damaging	Het
Syvn1	A	T	19: 6,051,184		probably benign	Het
Tas2r134	A	G	2: 51,628,136	H209R	probably benign	Het
Trak1	T	C	9: 121,443,718	V214A	possibly damaging	Het
Trpm5	C	A	7: 143,084,810	E322*	probably null	Het
Ttf2	T	C	3: 100,969,515	T17A	probably damaging	Het
Vmn2r53	T	C	7: 12,582,416	E492G	probably benign	Het
Xndc1	T	C	7: 102,077,887	V161A	probably benign	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	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
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'- ATGAGGGGTTCACTCACTAGGG -3'
(R):5'- CATTTGGTGCCAAGGTGGAG -3'

Sequencing Primer
(F):5'- CACTAGGGGTCCTTTTGGGAGAAC -3'
(R):5'- TGAAACGTGGGTGCGATG -3'

Posted On

2018-11-06