Incidental Mutation 'R4191:Irf2bp2'
ID 371072
Institutional Source Beutler Lab
Gene Symbol Irf2bp2
Ensembl Gene ENSMUSG00000051495
Gene Name interferon regulatory factor 2 binding protein 2
Synonyms E130305N23Rik
MMRRC Submission 041022-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R4191 (G1)
Quality Score 76
Status Validated
Chromosome 8
Chromosomal Location 127315035-127320725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127320084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 31 (D31G)
Ref Sequence ENSEMBL: ENSMUSP00000062753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054960]
AlphaFold E9Q1P8
Predicted Effect probably damaging
Transcript: ENSMUST00000054960
AA Change: D31G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062753
Gene: ENSMUSG00000051495
AA Change: D31G

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
Pfam:IRF-2BP1_2 12 63 8.3e-38 PFAM
low complexity region 77 92 N/A INTRINSIC
low complexity region 101 110 N/A INTRINSIC
low complexity region 132 147 N/A INTRINSIC
low complexity region 188 207 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
low complexity region 254 270 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 373 392 N/A INTRINSIC
low complexity region 438 446 N/A INTRINSIC
SCOP:d1fbva4 487 533 7e-5 SMART
Blast:RING 493 540 2e-21 BLAST
PDB:2CS3|A 493 560 6e-40 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181773
Meta Mutation Damage Score 0.6206 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 95% (57/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice are rarely born alive and those that are do not survive past 4 weeks of age. Fetal liver erythropoiesis is abnormal in these mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,207,728 (GRCm39) T22A probably damaging Het
Ache A T 5: 137,289,334 (GRCm39) I347F probably damaging Het
Adgrl1 C G 8: 84,665,569 (GRCm39) R1464G probably benign Het
Cdh11 T C 8: 103,377,380 (GRCm39) D422G probably damaging Het
Cdx1 C T 18: 61,153,510 (GRCm39) S176N possibly damaging Het
Cimip3 C T 17: 47,747,562 (GRCm39) R61H probably damaging Het
Csmd3 T C 15: 47,710,667 (GRCm39) D1536G probably damaging Het
Cyct G T 2: 76,184,535 (GRCm39) P72Q probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Disp1 G T 1: 182,870,737 (GRCm39) A561E probably damaging Het
Donson C A 16: 91,485,480 (GRCm39) A41S possibly damaging Het
Gldc T C 19: 30,123,058 (GRCm39) E279G probably damaging Het
Gpr160 A T 3: 30,950,863 (GRCm39) I312F possibly damaging Het
H2-Eb2 G A 17: 34,563,529 (GRCm39) probably benign Het
Igdcc4 A G 9: 65,031,433 (GRCm39) Q457R probably benign Het
Klrb1 T A 6: 128,690,597 (GRCm39) K42* probably null Het
Lrrfip1 A T 1: 91,038,121 (GRCm39) E446D probably benign Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Maml3 A G 3: 51,597,390 (GRCm39) V1098A probably benign Het
Mrgpra4 T C 7: 47,630,867 (GRCm39) S245G probably benign Het
Mybbp1a A G 11: 72,342,113 (GRCm39) E1283G probably damaging Het
Myh2 A G 11: 67,068,226 (GRCm39) S285G possibly damaging Het
Myh7b A G 2: 155,475,319 (GRCm39) D1876G probably benign Het
Nr4a2 T C 2: 57,002,391 (GRCm39) S21G probably damaging Het
Or10d1c T A 9: 38,894,313 (GRCm39) Q9L probably benign Het
Or2y14 T A 11: 49,404,639 (GRCm39) M58K probably damaging Het
Or7g25 A G 9: 19,160,383 (GRCm39) V104A probably benign Het
Or8c11 T A 9: 38,289,648 (GRCm39) M157K probably damaging Het
Or8k18 C A 2: 86,085,666 (GRCm39) V124L probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Pex10 T C 4: 155,152,362 (GRCm39) probably null Het
Pgf T C 12: 85,218,561 (GRCm39) D63G probably benign Het
Piwil4 A G 9: 14,626,296 (GRCm39) S465P probably damaging Het
Plcb1 A C 2: 135,187,010 (GRCm39) H759P probably damaging Het
Pmfbp1 A T 8: 110,254,260 (GRCm39) M432L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Rmnd1 A T 10: 4,360,809 (GRCm39) probably benign Het
Ro60 T C 1: 143,646,524 (GRCm39) I74V probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Svep1 C T 4: 58,046,601 (GRCm39) C3510Y possibly damaging Het
Tanc1 A G 2: 59,669,357 (GRCm39) I1274V probably damaging Het
Tep1 T C 14: 51,074,263 (GRCm39) E1874G probably damaging Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tlk1 G A 2: 70,555,891 (GRCm39) R423C probably damaging Het
Trp53rkb T C 2: 166,637,395 (GRCm39) I117T probably damaging Het
Ttll9 A G 2: 152,844,927 (GRCm39) T432A probably benign Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Zfp112 A G 7: 23,825,568 (GRCm39) D512G probably benign Het
Zfyve19 A G 2: 119,041,312 (GRCm39) K76R possibly damaging Het
Other mutations in Irf2bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Irf2bp2 UTSW 8 127,319,398 (GRCm39) missense probably damaging 1.00
R3771:Irf2bp2 UTSW 8 127,318,550 (GRCm39) missense probably damaging 1.00
R4199:Irf2bp2 UTSW 8 127,318,313 (GRCm39) missense probably damaging 1.00
R4581:Irf2bp2 UTSW 8 127,317,994 (GRCm39) missense probably damaging 0.99
R4824:Irf2bp2 UTSW 8 127,318,172 (GRCm39) missense probably benign
R4993:Irf2bp2 UTSW 8 127,319,410 (GRCm39) missense probably benign 0.21
R7100:Irf2bp2 UTSW 8 127,318,472 (GRCm39) missense probably benign 0.02
R9074:Irf2bp2 UTSW 8 127,318,456 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGGTCCTTGGCCGACAGTG -3'
(R):5'- TCTTTGCCCCGGTCTGGAG -3'

Sequencing Primer
(F):5'- ACAGTGGCGGTGGCTTG -3'
(R):5'- TAGTCGCGCAGACGCGGGCT -3'
Posted On 2016-02-12