Mutagenetix > Incidental Mutations

Incidental Mutation 'R7843:Ern2'

606445

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 #

R7843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122169893-122186207 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122173708 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 562 (V562A)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000033153
AA Change: V562A

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

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: V562A

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 damaging
Transcript: ENSMUST00000206198
AA Change: V561A

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

Coding Region Coverage

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	T	C	17: 35,959,243	D641G	possibly damaging	Het
Adam1b	A	T	5: 121,501,437	I515N	probably damaging	Het
Adamtsl5	A	G	10: 80,342,923	V207A	probably damaging	Het
Ampd3	A	G	7: 110,791,188	I143V	probably benign	Het
Ank3	A	T	10: 69,986,958	T486S	probably benign	Het
BC051142	C	T	17: 34,449,824	T176I	possibly damaging	Het
Bcl11a	A	G	11: 24,164,831	I725V	probably benign	Het
Blmh	A	G	11: 76,946,313	N29D	probably damaging	Het
C6	T	A	15: 4,808,404	V832D		Het
Ccdc191	T	A	16: 43,959,336	L777M	probably damaging	Het
Ccdc74a	C	G	16: 17,646,749	H45Q		Het
Cenpe	T	A	3: 135,232,959	Y517*	probably null	Het
Cep290	G	T	10: 100,516,188	R752L	possibly damaging	Het
Cers5	A	T	15: 99,772,331	W17R	unknown	Het
Chpf	T	C	1: 75,478,287		probably benign	Het
Chst5	C	A	8: 111,890,572	A139S	probably benign	Het
Cpn1	T	A	19: 43,986,158	D44V	probably benign	Het
Cstf1	T	C	2: 172,378,000	Y344H	probably damaging	Het
D7Ertd443e	A	C	7: 134,349,095	M283R	possibly damaging	Het
Dclk1	T	A	3: 55,255,877	V130D	probably damaging	Het
Dscam	C	T	16: 96,825,630	V360M	probably damaging	Het
Dvl2	A	G	11: 70,008,786	N518S	probably benign	Het
Eif2ak2	T	A	17: 78,868,774	K231N	probably benign	Het
Elovl4	T	C	9: 83,788,271	R123G	probably damaging	Het
F13a1	A	T	13: 37,025,771	N73K	probably benign	Het
Gcc2	C	A	10: 58,268,021	Q90K	possibly damaging	Het
Gnpda1	A	T	18: 38,328,899	S282T	probably benign	Het
Gpatch1	G	T	7: 35,281,454	H880Q	unknown	Het
Haus6	T	C	4: 86,586,341	D471G	possibly damaging	Het
Hcfc1r1	G	T	17: 23,674,656	E70*	probably null	Het
Ighv1-54	A	G	12: 115,193,863	W55R	probably damaging	Het
Jam3	T	C	9: 27,106,416		probably null	Het
Klhdc7a	A	T	4: 139,966,844	V264E	possibly damaging	Het
Lrrc4c	A	T	2: 97,630,213	T395S	probably benign	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Mast2	G	T	4: 116,353,011	T186K	probably damaging	Het
Meig1	T	A	2: 3,409,211	K84M	probably damaging	Het
Mep1b	G	T	18: 21,095,053	S571I	probably damaging	Het
Muc2	T	G	7: 141,695,419	V507G	probably benign	Het
Nkx2-3	C	A	19: 43,614,882	T309N	probably benign	Het
Oaf	G	A	9: 43,222,780	R215C	probably damaging	Het
Olfr1377	A	T	11: 50,985,018	T106S	probably benign	Het
Olfr1463	A	T	19: 13,234,537	N96Y	possibly damaging	Het
Olfr905	T	C	9: 38,472,947	S67P	probably damaging	Het
Pla2r1	T	G	2: 60,447,475	T835P	possibly damaging	Het
Ppil6	C	T	10: 41,501,866	T191I	probably benign	Het
Rps6ka5	T	C	12: 100,553,149	D735G	possibly damaging	Het
Setx	T	A	2: 29,173,569	N2292K	probably damaging	Het
Slc1a6	A	T	10: 78,796,260	I307F	probably damaging	Het
Slc5a3	T	A	16: 92,079,019	W655R	probably benign	Het
Slc9a1	T	C	4: 133,370,442		probably benign	Het
Sptbn1	A	G	11: 30,154,320	V128A	probably damaging	Het
Tenm3	T	A	8: 48,229,111	K2495*	probably null	Het
Tnni3k	T	A	3: 155,038,524	T64S	probably damaging	Het
Top1	T	C	2: 160,714,256	V545A	possibly damaging	Het
Trabd	A	G	15: 89,081,954	D38G	possibly damaging	Het
Umad1	G	A	6: 8,401,140	D70N	unknown	Het
Usp36	T	C	11: 118,285,965	E9G	probably damaging	Het
Vmn2r53	A	G	7: 12,582,099	S598P	probably damaging	Het
Vmn2r60	A	T	7: 42,195,087	T625S	probably benign	Het
Vmn2r72	G	A	7: 85,749,630	T505I	probably benign	Het
Vwce	T	A	19: 10,664,283	I791K	probably benign	Het
Wdr64	C	A	1: 175,812,102	H1046N	probably benign	Het
Zdhhc4	A	T	5: 143,320,276	D232E	probably damaging	Het
Zfp984	A	T	4: 147,757,708	F51I	probably damaging	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
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
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'- TGGGCTCTCCACGTACTAAG -3'
(R):5'- GCAGCCCTTTTGACAACAAC -3'

Sequencing Primer
(F):5'- GCTCTCCACGTACTAAGATGAGG -3'
(R):5'- TTCCAGACTCCCAGATGTGAG -3'

Posted On

2019-12-20