Mutagenetix > Incidental Mutations

Incidental Mutation 'R6272:Ern2'

507397

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 #

R6272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122169893-122186207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122176646 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 408 (D408E)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033153
AA Change: D408E

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: D408E

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: D408E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,009,449	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,036,261	I189V	noncoding transcript	Het
Ampd1	A	G	3: 103,085,383	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,311,072	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,646,963	D438E	probably benign	Het
Atxn1	T	A	13: 45,567,762	Q219L	possibly damaging	Het
AW551984	A	T	9: 39,598,037	D269E	probably benign	Het
Cryab	A	G	9: 50,754,525	K72R	possibly damaging	Het
Dbn1	G	A	13: 55,475,104	A522V	probably benign	Het
Dip2a	A	T	10: 76,286,407	*158R	probably null	Het
Edrf1	C	T	7: 133,637,808		probably benign	Het
F830016B08Rik	T	C	18: 60,300,078	S78P	probably damaging	Het
Fah	C	A	7: 84,595,545	G137C	probably damaging	Het
Fam208b	C	T	13: 3,581,891	R870H	possibly damaging	Het
Foxd3	A	G	4: 99,656,740	D39G	probably damaging	Het
Gm3854	C	T	7: 6,353,845	P219L	probably damaging	Het
Gprin3	G	A	6: 59,353,331	Q664*	probably null	Het
H2-Ob	T	C	17: 34,242,644	I119T	probably benign	Het
Hist1h3e	A	T	13: 23,562,226	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,130,345	G174R	probably damaging	Het
Kbtbd11	T	A	8: 15,029,118	C572*	probably null	Het
Kynu	A	T	2: 43,634,989	N315Y	probably benign	Het
Map1lc3b	G	A	8: 121,596,690	E100K	probably benign	Het
Matn2	T	A	15: 34,355,607	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,976,075		probably null	Het
Neto1	A	T	18: 86,494,815	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,524,505	D493G	probably benign	Het
Nup210l	A	G	3: 90,170,024	E889G	possibly damaging	Het
Olfr1153	G	A	2: 87,896,657	V153I	probably benign	Het
Olfr1383	C	A	11: 49,524,126	S134R	possibly damaging	Het
Olfr1402	A	G	3: 97,410,891	F97L	probably benign	Het
Olfr209	A	C	16: 59,361,585	M211R	possibly damaging	Het
Olfr296-ps1	A	G	7: 86,561,873	Y47C	unknown	Het
Olfr420	C	T	1: 174,159,175	T134I	probably benign	Het
Olfr967	A	T	9: 39,750,520	M45L	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Phc2	A	G	4: 128,709,647	Y190C	probably damaging	Het
Platr25	T	C	13: 62,672,997	T347A	possibly damaging	Het
Plec	T	C	15: 76,174,853	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,576,845	Q954L	probably benign	Het
Pnpla1	G	A	17: 28,881,368	G403E	probably benign	Het
Prdm4	G	A	10: 85,907,830	T187I	possibly damaging	Het
Prg4	T	C	1: 150,454,766		probably benign	Het
Prpf18	G	A	2: 4,633,447	R312W	probably damaging	Het
Rnf213	T	A	11: 119,414,548	V535D	probably damaging	Het
Rtcb	A	T	10: 85,955,774	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,554,697		probably null	Het
Szt2	A	C	4: 118,374,290		probably benign	Het
Tfap2e	A	T	4: 126,721,864	V259D	probably damaging	Het
Trav19	A	G	14: 53,845,798	D110G	probably damaging	Het
Ttc17	A	C	2: 94,358,755	C749W	probably damaging	Het
Ttc8	A	G	12: 98,982,494	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,387,133	S99P	probably damaging	Het
Ubqln3	C	T	7: 104,142,178	R235H	probably damaging	Het
Vmn2r61	A	T	7: 42,299,818	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,558,986	V761E	probably damaging	Het
Vmn2r97	T	C	17: 18,947,599	I705T	possibly damaging	Het
Wwox	G	A	8: 114,488,952	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,803,244		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
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'- ACAGTAGAGCTTGGACTCCC -3'
(R):5'- CAGAATCATGGACAGCACGATG -3'

Sequencing Primer
(F):5'- AGCTTGGACTCCCAGAGCATAG -3'
(R):5'- TCATGGACAGCACGATGTAGCC -3'

Posted On

2018-03-15