Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Ern2'

584698

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

045623-MU

Accession Numbers

Essential gene?

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

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121769116-121785430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121769464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 854 (V854E)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

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

AlphaFold

Q9Z2E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000033153
AA Change: V854E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: V854E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	T	A	4: 144,248,924 (GRCm39)	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,041,354 (GRCm39)	H502R	probably benign	Het
Adgrf4	T	C	17: 42,983,494 (GRCm39)	S63G	probably benign	Het
Agbl2	C	A	2: 90,621,899 (GRCm39)	L129I	probably damaging	Het
Ankrd11	C	A	8: 123,614,145 (GRCm39)	A2542S	probably damaging	Het
Armc9	A	G	1: 86,203,400 (GRCm39)	K818R	probably damaging	Het
Arsj	T	A	3: 126,231,885 (GRCm39)	C210*	probably null	Het
Aspscr1	C	T	11: 120,563,926 (GRCm39)	A11V	unknown	Het
Bicc1	G	T	10: 70,792,121 (GRCm39)	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,662,942 (GRCm39)	Q73P	probably benign	Het
Capn15	G	T	17: 26,182,406 (GRCm39)	D567E	probably damaging	Het
Catsperg1	A	C	7: 28,889,239 (GRCm39)	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,126,274 (GRCm39)	H72N	unknown	Het
Ccser2	A	T	14: 36,601,457 (GRCm39)	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,894,408 (GRCm39)	S59G	probably benign	Het
Chml	G	A	1: 175,515,456 (GRCm39)	P155L	probably benign	Het
Csmd2	C	T	4: 128,346,251 (GRCm39)	P1504S		Het
Dcbld2	A	G	16: 58,269,081 (GRCm39)		probably null	Het
Ddx21	C	T	10: 62,434,022 (GRCm39)	E246K	probably benign	Het
Dhx29	C	T	13: 113,064,176 (GRCm39)		probably benign	Het
Dis3l	A	C	9: 64,219,219 (GRCm39)	Y570*	probably null	Het
Dnah14	T	A	1: 181,597,619 (GRCm39)	Y3623N	probably benign	Het
Dock8	A	G	19: 25,152,764 (GRCm39)	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,597,059 (GRCm39)	S1669P	probably benign	Het
Eif1ad12	A	C	12: 87,541,505 (GRCm39)	K5N	unknown	Het
Eif2ak4	T	A	2: 118,247,764 (GRCm39)	I267N	possibly damaging	Het
Fuca2	G	A	10: 13,383,174 (GRCm39)		probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gm1110	T	A	9: 26,804,924 (GRCm39)	T380S	probably benign	Het
Golga2	G	A	2: 32,178,178 (GRCm39)	R29H	probably benign	Het
Grik5	T	C	7: 24,760,022 (GRCm39)	E259G	probably benign	Het
Grm3	T	C	5: 9,620,000 (GRCm39)	T415A	probably benign	Het
Gtf3c1	A	G	7: 125,244,842 (GRCm39)	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,589,803 (GRCm39)	C643R	probably damaging	Het
Hgfac	T	C	5: 35,199,972 (GRCm39)	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,480,625 (GRCm39)	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,312,610 (GRCm39)	L290*	probably null	Het
Homer3	A	G	8: 70,742,063 (GRCm39)	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,219,816 (GRCm39)	S141R	probably benign	Het
Hspa12b	C	T	2: 130,980,396 (GRCm39)	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,799,787 (GRCm39)	I231M	probably damaging	Het
Inhba	T	A	13: 16,192,222 (GRCm39)	N114K	probably benign	Het
Kmt2b	C	A	7: 30,268,835 (GRCm39)	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,483,061 (GRCm39)	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,382,731 (GRCm39)	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,363 (GRCm39)	K196R	probably benign	Het
Lrrn3	A	T	12: 41,502,910 (GRCm39)	M469K	probably benign	Het
Mafb	T	C	2: 160,207,749 (GRCm39)	E283G	probably damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mmp14	G	T	14: 54,675,199 (GRCm39)	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,927,711 (GRCm39)	N82I	probably benign	Het
Nsun6	T	A	2: 15,001,150 (GRCm39)	T469S	possibly damaging	Het
Or13p4	T	C	4: 118,546,839 (GRCm39)	D270G	possibly damaging	Het
Or5p79	G	C	7: 108,221,933 (GRCm39)	A305P	probably damaging	Het
Or8k30	A	C	2: 86,339,691 (GRCm39)	D296A	probably damaging	Het
Osbpl5	A	T	7: 143,248,670 (GRCm39)	F631I	possibly damaging	Het
Otud3	G	T	4: 138,629,196 (GRCm39)	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,332 (GRCm39)	I418F	possibly damaging	Het
Per1	G	A	11: 68,997,339 (GRCm39)	R838H	probably damaging	Het
Per2	G	A	1: 91,362,857 (GRCm39)	P395S	probably damaging	Het
Per3	G	A	4: 151,102,515 (GRCm39)	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,414,157 (GRCm39)	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,763,687 (GRCm39)	T1227A	probably benign	Het
Pramel30	T	C	4: 144,059,311 (GRCm39)	F341L	probably benign	Het
Psg17	C	T	7: 18,551,019 (GRCm39)	D279N	probably benign	Het
Rnf167	A	G	11: 70,541,623 (GRCm39)	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,362 (GRCm39)	S337P	probably damaging	Het
Sall1	T	C	8: 89,759,786 (GRCm39)	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,891,037 (GRCm39)	V590A	probably benign	Het
Setd1b	A	G	5: 123,295,820 (GRCm39)	D1102G	unknown	Het
Six2	C	A	17: 85,995,135 (GRCm39)	K82N	probably damaging	Het
Snx29	T	C	16: 11,218,806 (GRCm39)	M214T	probably benign	Het
Son	T	C	16: 91,455,810 (GRCm39)	L1519P	probably damaging	Het
Speer1h	A	T	5: 11,647,579 (GRCm39)	N106Y	probably damaging	Het
Spin1	C	T	13: 51,303,085 (GRCm39)	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,143,965 (GRCm39)	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422 (GRCm39)	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,920,950 (GRCm39)		probably null	Het
Themis	A	T	10: 28,657,698 (GRCm39)	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,145,742 (GRCm39)	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750 (GRCm39)	C171R	probably benign	Het
Tsg101	A	G	7: 46,563,159 (GRCm39)	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,303,547 (GRCm39)	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,692,026 (GRCm39)	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,447,937 (GRCm39)	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,319,557 (GRCm39)		probably null	Het
Zfp933	A	G	4: 147,910,589 (GRCm39)	F336L	probably damaging	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
R4943:Ern2	UTSW	7	121,772,481 (GRCm39)	missense	possibly damaging	0.95
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
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'- ACAGGCTCAACTCCTTGGTC -3'
(R):5'- GCCTGCAGATCTGAAAAGGTTC -3'

Sequencing Primer
(F):5'- TGGACCCTCTGGATGTCTCAG -3'
(R):5'- GCAGATCTGAAAAGGTTCCGCTC -3'

Posted On

2019-10-17