Mutagenetix > Incidental Mutation

Incidental Mutation 'R8416:Irf2'

652950

Institutional Source

Beutler Lab

Gene Symbol

Irf2

Ensembl Gene

ENSMUSG00000031627

Gene Name

interferon regulatory factor 2

Synonyms

Irf-2, 9830146E22Rik

MMRRC Submission

067770-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.382) question?

Stock #

R8416 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47192767-47300493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47271887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 158 (Y158F)

Ref Sequence

ENSEMBL: ENSMUSP00000034041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034041] [ENSMUST00000207105] [ENSMUST00000210218] [ENSMUST00000210284]

AlphaFold

P23906

PDB Structure

INTERFERON REGULATORY FACTOR-2 DNA BINDING DOMAIN, NMR, MINIMIZED AVERAGE STRUCTURE [SOLUTION NMR]
INTERFERON REGULATORY FACTOR-2 DNA BINDING DOMAIN, NMR, 20 STRUCTURES [SOLUTION NMR]
CRYSTAL STRUCTURE OF AN IRF-2/DNA COMPLEX. [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000034041
AA Change: Y158F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034041
Gene: ENSMUSG00000031627
AA Change: Y158F

Domain	Start	End	E-Value	Type
IRF	1	114	4.09e-61	SMART
low complexity region	115	132	N/A	INTRINSIC
Blast:IRF	247	301	3e-25	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000207105
AA Change: Y120F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210218

Predicted Effect

probably benign
Transcript: ENSMUST00000210284

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in B lymphopoiesis and hematopoiesis, often die prematurely, show increased mortality following lymphocytic choriomeningitis virus infection, and develop an inflammatory skin disease involving CD8+ Tcells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,369,023 (GRCm39)	N173S	probably benign	Het
Agps	A	G	2: 75,684,547 (GRCm39)	I172V	probably benign	Het
Amz1	G	A	5: 140,737,731 (GRCm39)	W330*	probably null	Het
Asap1	A	T	15: 64,002,072 (GRCm39)	M413K	possibly damaging	Het
Bhmt1b	T	C	18: 87,774,687 (GRCm39)	V70A	probably damaging	Het
Ccdc83	A	T	7: 89,885,513 (GRCm39)	W291R	unknown	Het
Cdh19	A	T	1: 110,853,610 (GRCm39)	M277K	probably benign	Het
Clca3a1	C	A	3: 144,460,914 (GRCm39)		probably null	Het
Cnpy1	T	C	5: 28,408,423 (GRCm39)	T138A	probably benign	Het
Csnka2ip	T	C	16: 64,300,295 (GRCm39)	D23G		Het
Cxcr5	A	T	9: 44,425,583 (GRCm39)	F25I	probably benign	Het
Defb33	T	A	8: 21,387,651 (GRCm39)	*63R	probably null	Het
Dgkz	A	T	2: 91,770,649 (GRCm39)	S485T	possibly damaging	Het
Elac1	A	G	18: 73,871,927 (GRCm39)	I356T	probably damaging	Het
Fam135a	C	T	1: 24,067,675 (GRCm39)	D1065N	probably benign	Het
Fbxo10	T	A	4: 45,058,942 (GRCm39)	D265V	possibly damaging	Het
Flrt2	A	G	12: 95,746,331 (GRCm39)	E223G	probably benign	Het
Gjc2	A	T	11: 59,068,334 (GRCm39)	D49E	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Jmy	T	C	13: 93,634,949 (GRCm39)	D289G	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Limch1	T	G	5: 67,156,649 (GRCm39)	I372S	probably benign	Het
Lsm11	A	T	11: 45,824,730 (GRCm39)	W266R	probably benign	Het
Mboat2	G	A	12: 24,984,609 (GRCm39)	E147K	probably damaging	Het
Mctp2	T	C	7: 71,852,210 (GRCm39)	I439V	probably benign	Het
Npc2	A	G	12: 84,812,131 (GRCm39)	V37A	probably damaging	Het
Or2t29	A	T	11: 58,433,778 (GRCm39)	S188T	possibly damaging	Het
Or5b119	A	T	19: 13,456,764 (GRCm39)	M266K	possibly damaging	Het
Parp4	T	C	14: 56,825,271 (GRCm39)		probably null	Het
Pcdhga2	A	T	18: 37,803,178 (GRCm39)	N341Y	probably damaging	Het
Pde1b	G	A	15: 103,423,745 (GRCm39)		probably benign	Het
Pde1c	C	T	6: 56,128,276 (GRCm39)		probably null	Het
Plce1	G	A	19: 38,761,441 (GRCm39)	V2098I	possibly damaging	Het
Pou2f2	G	T	7: 24,815,551 (GRCm39)	S72*	probably null	Het
Ptpru	C	T	4: 131,535,783 (GRCm39)	R398H	probably damaging	Het
Rps15	A	G	10: 80,128,624 (GRCm39)	K7E	probably benign	Het
Rtn4rl2	C	T	2: 84,702,951 (GRCm39)	G207D	probably damaging	Het
Scn2a	A	C	2: 65,511,345 (GRCm39)	L130F	probably benign	Het
Sh3tc1	G	A	5: 35,868,256 (GRCm39)	R403W	probably damaging	Het
Slc7a9	A	G	7: 35,152,858 (GRCm39)	K92R	probably benign	Het
Slit3	A	T	11: 35,399,062 (GRCm39)	E142D	probably benign	Het
Srpk1	A	G	17: 28,813,229 (GRCm39)	I505T	probably damaging	Het
Sult1c2	A	T	17: 54,269,580 (GRCm39)	I216K	probably benign	Het
Susd6	T	A	12: 80,897,997 (GRCm39)	M44K	probably benign	Het
Thoc5	T	A	11: 4,876,068 (GRCm39)	V607E	probably benign	Het
Tiparp	A	G	3: 65,438,767 (GRCm39)	R28G	probably benign	Het
Tln1	C	T	4: 43,540,116 (GRCm39)	V1498I	probably benign	Het
Tmprss11c	T	G	5: 86,387,276 (GRCm39)	Q214P	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Wdr11	G	A	7: 129,232,403 (GRCm39)	S937N	possibly damaging	Het
Zdhhc23	A	T	16: 43,791,927 (GRCm39)	I282K	probably damaging	Het
Zfp488	A	G	14: 33,693,052 (GRCm39)	M37T	probably benign	Het
Zmpste24	T	C	4: 120,940,556 (GRCm39)	S142G	probably benign	Het

Other mutations in Irf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Irf2	APN	8	47,260,260 (GRCm39)	missense	probably damaging	1.00
IGL02251:Irf2	APN	8	47,260,788 (GRCm39)	critical splice donor site	probably null
IGL02403:Irf2	APN	8	47,299,207 (GRCm39)	missense	probably damaging	1.00
IGL03208:Irf2	APN	8	47,260,340 (GRCm39)	missense	probably damaging	1.00
Gentle	UTSW	8	47,260,316 (GRCm39)	missense	probably damaging	1.00
softie	UTSW	8	47,260,314 (GRCm39)	missense	probably damaging	1.00
R0053:Irf2	UTSW	8	47,271,886 (GRCm39)	missense	probably benign	0.44
R0053:Irf2	UTSW	8	47,271,886 (GRCm39)	missense	probably benign	0.44
R0411:Irf2	UTSW	8	47,299,096 (GRCm39)	missense	probably benign
R1523:Irf2	UTSW	8	47,290,875 (GRCm39)	critical splice donor site	probably null
R1888:Irf2	UTSW	8	47,260,388 (GRCm39)	nonsense	probably null
R1888:Irf2	UTSW	8	47,260,388 (GRCm39)	nonsense	probably null
R2059:Irf2	UTSW	8	47,260,380 (GRCm39)	missense	probably damaging	1.00
R2076:Irf2	UTSW	8	47,298,962 (GRCm39)	missense	probably damaging	0.97
R2259:Irf2	UTSW	8	47,290,868 (GRCm39)	missense	probably benign	0.00
R4691:Irf2	UTSW	8	47,299,222 (GRCm39)	missense	probably damaging	1.00
R5722:Irf2	UTSW	8	47,271,831 (GRCm39)	missense	possibly damaging	0.95
R7163:Irf2	UTSW	8	47,290,712 (GRCm39)	missense	possibly damaging	0.83
R7216:Irf2	UTSW	8	47,246,591 (GRCm39)	missense	probably benign
R7337:Irf2	UTSW	8	47,260,316 (GRCm39)	missense	probably damaging	1.00
R7792:Irf2	UTSW	8	47,260,314 (GRCm39)	missense	probably damaging	1.00
R8436:Irf2	UTSW	8	47,271,929 (GRCm39)	missense	probably damaging	0.99
R8798:Irf2	UTSW	8	47,260,349 (GRCm39)	missense	probably benign	0.18
X0053:Irf2	UTSW	8	47,260,302 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTTGGGACATGACACGAATGAC -3'
(R):5'- AGCACTGGGATTTGGACACG -3'

Sequencing Primer
(F):5'- TGGGACATGACACGAATGACTAACC -3'
(R):5'- AAGACCTCCTCTTACTGACTGTG -3'

Posted On

2020-10-20