Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Ern2'

226591

Institutional Source

Beutler Lab

Gene Symbol

Ern2

Ensembl Gene

ENSMUSG00000030866

Gene Name

endoplasmic reticulum to nucleus signalling 2

Synonyms

Ire1b

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

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

Stock #

R2055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121769116-121785430 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121783168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 34 (V34D)

Ref Sequence

ENSEMBL: ENSMUSP00000033153 (fasta)

Gene Model

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

AlphaFold

Q9Z2E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033153
AA Change: V34D

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033153
Gene: ENSMUSG00000030866
AA Change: V34D

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

possibly damaging
Transcript: ENSMUST00000206198
AA Change: V34D

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Phactr1	A	G	13: 43,231,416 (GRCm39)	N386S	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	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
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'- TTCAATGCCAAGGTGAATGC -3'
(R):5'- CCCACCTTAGGTCTATTTTGGAAAAC -3'

Sequencing Primer
(F):5'- GCCAAGGTGAATGCCCACTC -3'
(R):5'- CTATTTTGGAAAACAGAAAGATGTGG -3'

Posted On

2014-09-17