Mutagenetix > Incidental Mutation

Incidental Mutation 'R1986:Ern2'

220653

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

039998-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R1986 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

121769116-121785430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121770752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 754 (D754V)

Ref Sequence

ENSEMBL: ENSMUSP00000145716 (fasta)

Gene Model

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

AlphaFold

Q9Z2E3

Predicted Effect

probably benign
Transcript: ENSMUST00000033153
AA Change: D755V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: D755V

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: ENSMUST00000033153
AA Change: D755V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: D755V

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
AA Change: D754V

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206202

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,212,977 (GRCm39)	S105P	probably damaging	Het
9930111J21Rik2	T	A	11: 48,910,119 (GRCm39)	K771N	possibly damaging	Het
Abcc2	A	G	19: 43,818,318 (GRCm39)	E1268G	probably damaging	Het
Adamts4	T	C	1: 171,084,244 (GRCm39)	F574L	possibly damaging	Het
Adamts9	A	G	6: 92,773,375 (GRCm39)	V1165A	probably benign	Het
Agap2	A	T	10: 126,918,913 (GRCm39)	K430*	probably null	Het
Amn	G	T	12: 111,241,431 (GRCm39)	G232V	probably damaging	Het
Ank3	A	G	10: 69,703,258 (GRCm39)	E297G	probably damaging	Het
Arhgap45	T	C	10: 79,856,530 (GRCm39)	L26P	probably damaging	Het
Atp10b	C	A	11: 43,063,595 (GRCm39)	Q177K	probably benign	Het
Bbs10	A	T	10: 111,135,118 (GRCm39)	D77V	probably damaging	Het
Bltp2	A	T	11: 78,165,438 (GRCm39)	H1318L	probably damaging	Het
Bpifa1	T	A	2: 153,986,256 (GRCm39)	L127Q	probably damaging	Het
Brinp2	T	C	1: 158,074,348 (GRCm39)	N591S	probably damaging	Het
C2cd2	A	C	16: 97,671,471 (GRCm39)	V476G	probably damaging	Het
C7	T	A	15: 5,041,494 (GRCm39)	T471S	possibly damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Cadps2	A	G	6: 23,323,379 (GRCm39)	F1001L	probably damaging	Het
Ccdc188	T	C	16: 18,036,707 (GRCm39)	S216P	probably damaging	Het
Ccdc24	A	G	4: 117,729,213 (GRCm39)	L88P	probably damaging	Het
Dab1	T	C	4: 104,470,412 (GRCm39)	I65T	probably damaging	Het
Dock4	A	T	12: 40,780,062 (GRCm39)	D621V	probably damaging	Het
Drd5	A	T	5: 38,477,456 (GRCm39)	M150L	probably damaging	Het
Eef2k	T	A	7: 120,472,569 (GRCm39)	M94K	possibly damaging	Het
Epg5	A	G	18: 78,025,521 (GRCm39)		probably null	Het
Epsti1	T	C	14: 78,169,673 (GRCm39)		probably null	Het
Fbxo6	A	G	4: 148,230,552 (GRCm39)	Y237H	probably damaging	Het
Fbxw24	A	G	9: 109,436,124 (GRCm39)	S303P	probably damaging	Het
Fpr-rs3	A	T	17: 20,844,103 (GRCm39)		probably null	Het
Gab1	G	T	8: 81,493,010 (GRCm39)	T679K	probably damaging	Het
Gbp9	C	A	5: 105,253,590 (GRCm39)	V42F	probably damaging	Het
Gbp9	A	T	5: 105,253,652 (GRCm39)	V21E	probably damaging	Het
Gm20821	A	G	Y: 9,783,927 (GRCm39)	Q183R	probably benign	Het
Gpatch11	A	T	17: 79,151,266 (GRCm39)	I226F	probably benign	Het
Hephl1	T	G	9: 14,965,848 (GRCm39)	E1035A	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Ifna13	A	G	4: 88,562,588 (GRCm39)	V12A	probably benign	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Irgm2	A	G	11: 58,110,384 (GRCm39)	D37G	probably benign	Het
Irs1	A	G	1: 82,266,486 (GRCm39)	S577P	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Krtap4-16	T	C	11: 99,742,322 (GRCm39)	Q26R	unknown	Het
Lig1	T	A	7: 13,043,067 (GRCm39)	Y837*	probably null	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Map3k20	C	T	2: 72,271,638 (GRCm39)	Q589*	probably null	Het
Masp1	T	G	16: 23,302,211 (GRCm39)	M347L	probably benign	Het
Mgat3	A	T	15: 80,096,390 (GRCm39)	I406F	probably benign	Het
Mmp1b	T	G	9: 7,368,577 (GRCm39)	D425A	probably benign	Het
Mss51	T	C	14: 20,533,259 (GRCm39)	H404R	probably benign	Het
Myo15b	A	T	11: 115,773,701 (GRCm39)	H1911L	probably benign	Het
Nedd4l	A	G	18: 65,276,874 (GRCm39)	D102G	probably damaging	Het
Niban3	T	A	8: 72,056,404 (GRCm39)	I368N	possibly damaging	Het
Npc2	T	C	12: 84,807,523 (GRCm39)	K112E	probably benign	Het
Nuggc	T	A	14: 65,879,370 (GRCm39)	V694E	probably damaging	Het
Olfm1	T	G	2: 28,104,718 (GRCm39)	V157G	probably benign	Het
Or10h28	T	C	17: 33,488,489 (GRCm39)	S264P	probably benign	Het
Or5p55	T	C	7: 107,566,877 (GRCm39)	V91A	probably benign	Het
Otogl	T	A	10: 107,630,051 (GRCm39)		probably null	Het
Ovgp1	G	A	3: 105,882,251 (GRCm39)	C38Y	probably damaging	Het
Pisd	A	T	5: 32,894,672 (GRCm39)	S344T	probably damaging	Het
Psme4	T	C	11: 30,780,352 (GRCm39)	V840A	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Rin2	T	A	2: 145,720,860 (GRCm39)	M731K	probably damaging	Het
Scgb1b19	T	C	7: 32,987,108 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,594,514 (GRCm39)	I235T	possibly damaging	Het
Setbp1	T	A	18: 78,901,759 (GRCm39)	E636V	probably damaging	Het
Sh3d21	C	T	4: 126,056,290 (GRCm39)	E101K	probably damaging	Het
Ski	T	G	4: 155,306,148 (GRCm39)	D225A	probably damaging	Het
Slc28a2b	A	G	2: 122,357,910 (GRCm39)	T655A	probably benign	Het
Slc29a3	T	C	10: 60,559,593 (GRCm39)	Y187C	probably damaging	Het
Sort1	T	A	3: 108,253,043 (GRCm39)	D494E	possibly damaging	Het
Sphkap	A	T	1: 83,255,643 (GRCm39)	L702Q	probably damaging	Het
Srr	A	G	11: 74,799,545 (GRCm39)	I285T	probably damaging	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Suds3	A	T	5: 117,246,417 (GRCm39)	N112K	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tesk2	T	C	4: 116,608,390 (GRCm39)	L104P	probably damaging	Het
Tie1	C	T	4: 118,336,160 (GRCm39)	R702H	probably benign	Het
Tpo	G	T	12: 30,169,465 (GRCm39)	A90E	probably damaging	Het
Trim30a	T	C	7: 104,060,672 (GRCm39)	D368G	probably damaging	Het
Ugt2a2	A	T	5: 87,608,438 (GRCm39)	M633K	possibly damaging	Het
Vars2	A	G	17: 35,970,953 (GRCm39)	W626R	probably damaging	Het
Vmn2r10	A	T	5: 109,154,120 (GRCm39)	Y61*	probably null	Het
Vmn2r95	T	C	17: 18,671,805 (GRCm39)	V514A	probably benign	Het
Vwa5a	T	G	9: 38,649,110 (GRCm39)		probably benign	Het
Zfp365	A	T	10: 67,745,686 (GRCm39)	C31S	probably damaging	Het
Zfp397	A	T	18: 24,093,108 (GRCm39)	I198F	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp593	T	C	4: 133,972,206 (GRCm39)	E100G	possibly 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
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
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'- ATGAGCCACTCCGAGTTTC -3'
(R):5'- AACATCCTCTCAGGGGATCC -3'

Sequencing Primer
(F):5'- TCCCCAGTTAGCGGAAATGTTAG -3'
(R):5'- GATCCCTGTCTGGCTCAGCTG -3'

Posted On

2014-08-25