Mutagenetix > Incidental Mutation

Incidental Mutation 'R4943:Ern2'

383269

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

042540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121769116-121785430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121772481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 659 (R659H)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

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

AlphaFold

Q9Z2E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033153
AA Change: R659H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: R659H

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

possibly damaging
Transcript: ENSMUST00000206198
AA Change: R658H

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.2397

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

99% (81/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,393,446 (GRCm39)	T366K	possibly damaging	Het
2510039O18Rik	T	A	4: 148,029,555 (GRCm39)	H508Q	probably damaging	Het
Aadacl4fm5	T	A	4: 144,504,290 (GRCm39)	E287V	probably benign	Het
Actl9	G	A	17: 33,652,059 (GRCm39)	V40M	possibly damaging	Het
Aen	T	A	7: 78,552,109 (GRCm39)	V23E	probably damaging	Het
Agbl1	G	A	7: 76,069,764 (GRCm39)	R432K	probably benign	Het
Akap13	T	A	7: 75,398,988 (GRCm39)	F2689I	probably benign	Het
Arhgap45	A	G	10: 79,862,337 (GRCm39)	S475G	probably benign	Het
Atg7	A	C	6: 114,674,045 (GRCm39)	Q231P	probably benign	Het
Calr3	A	T	8: 73,185,221 (GRCm39)	V226D	probably benign	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cops4	A	T	5: 100,695,292 (GRCm39)	M404L	probably benign	Het
Cpne4	A	T	9: 104,896,972 (GRCm39)	H375L	probably damaging	Het
D16Ertd472e	A	T	16: 78,372,877 (GRCm39)	V20D	probably damaging	Het
Dcun1d5	T	C	9: 7,186,844 (GRCm39)	F55L	possibly damaging	Het
Dhx8	T	A	11: 101,628,526 (GRCm39)	L93*	probably null	Het
Dtx4	A	G	19: 12,478,424 (GRCm39)	L53P	probably damaging	Het
Etl4	G	A	2: 20,812,092 (GRCm39)	A1392T	probably benign	Het
Fat2	T	C	11: 55,169,859 (GRCm39)	R2967G	probably benign	Het
Fat4	A	G	3: 39,034,322 (GRCm39)	D2658G	probably benign	Het
Ftsj3	A	G	11: 106,140,344 (GRCm39)	V808A	probably damaging	Het
Gm10447	A	T	11: 53,347,216 (GRCm39)	Y104*	probably null	Het
Gm27013	A	T	6: 130,653,163 (GRCm39)	C766*	probably null	Het
Gm5581	A	G	6: 131,144,088 (GRCm39)		noncoding transcript	Het
Gpr158	G	A	2: 21,831,968 (GRCm39)	V1023I	probably damaging	Het
Hectd2	T	G	19: 36,581,647 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,225,504 (GRCm39)	Y138H	probably damaging	Het
Kif28	T	C	1: 179,541,516 (GRCm39)	I369V	probably benign	Het
Kif4-ps	C	T	12: 101,115,476 (GRCm39)		noncoding transcript	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Map3k20	G	A	2: 72,202,262 (GRCm39)	M164I	possibly damaging	Het
Map4k4	A	G	1: 40,058,754 (GRCm39)	I1050V	probably damaging	Het
Med23	T	A	10: 24,751,567 (GRCm39)	V133D	possibly damaging	Het
Mycn	A	T	12: 12,987,080 (GRCm39)	L439Q	probably damaging	Het
Myh2	G	T	11: 67,088,143 (GRCm39)	A1920S	probably damaging	Het
Myom3	T	C	4: 135,541,585 (GRCm39)	V1392A	possibly damaging	Het
Nktr	T	A	9: 121,549,020 (GRCm39)		probably benign	Het
Nme3	A	G	17: 25,115,697 (GRCm39)	K48E	probably damaging	Het
Nt5dc1	T	C	10: 34,186,387 (GRCm39)	R58G	probably damaging	Het
Nup205	A	G	6: 35,201,574 (GRCm39)	E1270G	probably damaging	Het
Or12d16-ps1	G	T	17: 37,705,916 (GRCm39)	A162S	probably benign	Het
Or4e2	C	G	14: 52,688,051 (GRCm39)	Y60*	probably null	Het
Or51l4	A	T	7: 103,404,503 (GRCm39)	F96L	probably benign	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pclo	T	C	5: 14,762,651 (GRCm39)	L3708P	unknown	Het
Pde4dip	A	T	3: 97,662,827 (GRCm39)	N590K	probably damaging	Het
Prokr1	A	C	6: 87,558,806 (GRCm39)	I193S	possibly damaging	Het
Pxdc1	C	A	13: 34,822,989 (GRCm39)		probably null	Het
Rapgef2	A	T	3: 78,971,854 (GRCm39)	S1494T	probably benign	Het
Rbms3	G	C	9: 116,507,573 (GRCm39)		probably benign	Het
Reep3	T	A	10: 66,932,042 (GRCm39)		probably benign	Het
Rwdd2b	T	C	16: 87,231,422 (GRCm39)	K244R	possibly damaging	Het
Srrm2	T	C	17: 24,041,389 (GRCm39)	V2533A	possibly damaging	Het
Stab2	T	C	10: 86,790,026 (GRCm39)	Y580C	probably damaging	Het
Stac2	G	T	11: 97,932,398 (GRCm39)	S198R	probably benign	Het
Tdp2	T	A	13: 25,022,248 (GRCm39)	N222K	probably benign	Het
Tex21	A	G	12: 76,268,474 (GRCm39)	S103P	probably damaging	Het
Thbs1	A	T	2: 117,943,930 (GRCm39)	I183F	probably damaging	Het
Tm9sf1	T	C	14: 55,878,625 (GRCm39)	I256V	probably damaging	Het
Tmem207	C	T	16: 26,336,603 (GRCm39)	W50*	probably null	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Vmn1r227	A	T	17: 20,955,623 (GRCm39)		noncoding transcript	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r75	A	T	7: 85,814,705 (GRCm39)	S263T	probably damaging	Het
Wdr64	G	A	1: 175,547,882 (GRCm39)	V140I	probably benign	Het
Xpo4	T	C	14: 57,875,697 (GRCm39)	I145M	possibly damaging	Het
Zan	G	A	5: 137,456,152 (GRCm39)	T1336I	unknown	Het
Zdbf2	G	T	1: 63,342,073 (GRCm39)	V151F	possibly damaging	Het
Zfhx3	T	C	8: 109,674,949 (GRCm39)	S2000P	probably damaging	Het
Zfp65	T	A	13: 67,859,099 (GRCm39)	I12F	probably damaging	Het
Zfp703	C	A	8: 27,469,619 (GRCm39)	Q428K	probably benign	Het
Zfp947	A	C	17: 22,364,813 (GRCm39)	M287R	probably benign	Het
Zfp976	A	T	7: 42,261,846 (GRCm39)		probably benign	Het

Other mutations in Ern2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:Ern2	APN	7	121,769,315 (GRCm39)	missense	probably damaging	0.99
IGL01324:Ern2	APN	7	121,782,413 (GRCm39)	missense	possibly damaging	0.88
IGL02185:Ern2	APN	7	121,772,598 (GRCm39)	splice site	probably benign
IGL02738:Ern2	APN	7	121,782,122 (GRCm39)	missense	probably damaging	0.99
IGL02750:Ern2	APN	7	121,780,629 (GRCm39)	splice site	probably benign
IGL03247:Ern2	APN	7	121,770,894 (GRCm39)	missense	probably benign	0.02
ernie	UTSW	7	121,770,884 (GRCm39)	critical splice donor site	probably null
Ernie2	UTSW	7	121,780,085 (GRCm39)	splice site	probably benign
ernie3	UTSW	7	121,773,042 (GRCm39)	critical splice acceptor site	probably null
R0165:Ern2	UTSW	7	121,779,002 (GRCm39)	missense	probably benign	0.02
R0785:Ern2	UTSW	7	121,770,884 (GRCm39)	critical splice donor site	probably null
R0801:Ern2	UTSW	7	121,780,085 (GRCm39)	splice site	probably benign
R1345:Ern2	UTSW	7	121,776,993 (GRCm39)	missense	probably damaging	1.00
R1649:Ern2	UTSW	7	121,776,623 (GRCm39)	missense	probably damaging	1.00
R1747:Ern2	UTSW	7	121,773,043 (GRCm39)	critical splice acceptor site	probably null
R1747:Ern2	UTSW	7	121,773,042 (GRCm39)	critical splice acceptor site	probably null
R1846:Ern2	UTSW	7	121,775,759 (GRCm39)	missense	probably benign	0.32
R1899:Ern2	UTSW	7	121,783,065 (GRCm39)	splice site	probably benign
R1986:Ern2	UTSW	7	121,770,752 (GRCm39)	missense	probably benign	0.06
R2055:Ern2	UTSW	7	121,783,168 (GRCm39)	missense	possibly damaging	0.84
R2329:Ern2	UTSW	7	121,772,710 (GRCm39)	missense	possibly damaging	0.82
R2351:Ern2	UTSW	7	121,770,731 (GRCm39)	missense	probably damaging	0.97
R2894:Ern2	UTSW	7	121,780,810 (GRCm39)	missense	possibly damaging	0.94
R3176:Ern2	UTSW	7	121,780,187 (GRCm39)	missense	possibly damaging	0.89
R3276:Ern2	UTSW	7	121,780,187 (GRCm39)	missense	possibly damaging	0.89
R3945:Ern2	UTSW	7	121,775,753 (GRCm39)	missense	probably benign	0.10
R4303:Ern2	UTSW	7	121,777,069 (GRCm39)	critical splice acceptor site	probably null
R4874:Ern2	UTSW	7	121,775,810 (GRCm39)	missense	probably benign	0.28
R5184:Ern2	UTSW	7	121,779,182 (GRCm39)	missense	probably benign	0.03
R5629:Ern2	UTSW	7	121,769,389 (GRCm39)	missense	probably damaging	1.00
R5770:Ern2	UTSW	7	121,779,130 (GRCm39)	missense	possibly damaging	0.92
R6255:Ern2	UTSW	7	121,772,495 (GRCm39)	missense	probably damaging	1.00
R6272:Ern2	UTSW	7	121,775,869 (GRCm39)	missense	probably benign	0.05
R6277:Ern2	UTSW	7	121,785,330 (GRCm39)	missense	probably benign
R6624:Ern2	UTSW	7	121,777,006 (GRCm39)	missense	probably benign	0.00
R6940:Ern2	UTSW	7	121,785,369 (GRCm39)	missense	probably benign	0.01
R7491:Ern2	UTSW	7	121,769,756 (GRCm39)	missense	probably damaging	1.00
R7544:Ern2	UTSW	7	121,772,422 (GRCm39)	missense	probably benign	0.06
R7555:Ern2	UTSW	7	121,769,464 (GRCm39)	missense	probably damaging	1.00
R7843:Ern2	UTSW	7	121,772,931 (GRCm39)	missense	probably damaging	1.00
R8281:Ern2	UTSW	7	121,769,483 (GRCm39)	missense	probably damaging	1.00
R8321:Ern2	UTSW	7	121,772,431 (GRCm39)	missense	probably damaging	1.00
R8377:Ern2	UTSW	7	121,780,515 (GRCm39)	nonsense	probably null
R8548:Ern2	UTSW	7	121,777,062 (GRCm39)	missense	probably damaging	1.00
R8853:Ern2	UTSW	7	121,772,967 (GRCm39)	missense	probably damaging	1.00
R8929:Ern2	UTSW	7	121,769,363 (GRCm39)	missense	probably benign	0.03
R8931:Ern2	UTSW	7	121,769,363 (GRCm39)	missense	probably benign	0.03
R9088:Ern2	UTSW	7	121,772,890 (GRCm39)	missense	probably damaging	1.00
R9511:Ern2	UTSW	7	121,776,823 (GRCm39)	missense	probably benign	0.03
R9789:Ern2	UTSW	7	121,769,485 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGTCAGGAGCGGATGGTC -3'
(R):5'- AGGTACCGTCTTGCTTCCAG -3'

Sequencing Primer
(F):5'- GAGATGCTTTCTTCCCAAGGCAAG -3'
(R):5'- GTACCGTCTTGCTTCCAGTCCTTAG -3'

Posted On

2016-04-27