Incidental Mutation 'R5722:Irf2'
ID 452267
Institutional Source Beutler Lab
Gene Symbol Irf2
Ensembl Gene ENSMUSG00000031627
Gene Name interferon regulatory factor 2
Synonyms Irf-2, 9830146E22Rik
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 47192767-47300493 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 47271831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 101 (E101D)
Ref Sequence ENSEMBL: ENSMUSP00000146714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034041] [ENSMUST00000207105] [ENSMUST00000210218] [ENSMUST00000210284]
AlphaFold P23906
Predicted Effect probably benign
Transcript: ENSMUST00000034041
AA Change: E139D

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000034041
Gene: ENSMUSG00000031627
AA Change: E139D

DomainStartEndE-ValueType
IRF 1 114 4.09e-61 SMART
low complexity region 115 132 N/A INTRINSIC
Blast:IRF 247 301 3e-25 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000207105
AA Change: E101D

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209820
Predicted Effect probably benign
Transcript: ENSMUST00000210218
Predicted Effect probably benign
Transcript: ENSMUST00000210284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210334
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Smgc T A 15: 91,726,109 (GRCm39) S18R possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null Het
Other mutations in Irf2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8416:Irf2 UTSW 8 47,271,887 (GRCm39) missense probably benign 0.00
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'- AGCTGCAGGTATTTCCCGAG -3'
(R):5'- TTAGACCTCAGAGGCTGCTC -3'

Sequencing Primer
(F):5'- TATTTCCCGAGGGCAAGC -3'
(R):5'- TCAGAGGCTGCTCGTGAG -3'
Posted On 2017-01-03