Incidental Mutation 'R4199:Irf2bp2'
ID 318680
Institutional Source Beutler Lab
Gene Symbol Irf2bp2
Ensembl Gene ENSMUSG00000051495
Gene Name interferon regulatory factor 2 binding protein 2
Synonyms E130305N23Rik
MMRRC Submission 041029-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R4199 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 127315035-127320725 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127318313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 418 (A418S)
Ref Sequence ENSEMBL: ENSMUSP00000062753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054960]
AlphaFold E9Q1P8
Predicted Effect probably damaging
Transcript: ENSMUST00000054960
AA Change: A418S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062753
Gene: ENSMUSG00000051495
AA Change: A418S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankhd1 C G 18: 36,794,101 (GRCm39) probably benign Het
Cbarp G T 10: 79,971,326 (GRCm39) H173Q probably damaging Het
Ccna1 G A 3: 54,954,736 (GRCm39) A177V possibly damaging Het
Ces1f A G 8: 93,983,517 (GRCm39) F497L probably benign Het
Cic TCCCCC TCCCCCCC 7: 24,991,095 (GRCm39) probably null Het
Disc1 C T 8: 125,875,198 (GRCm39) T556I probably damaging Het
Dnah3 C T 7: 119,522,061 (GRCm39) G4033D probably damaging Het
Dnmt1 A G 9: 20,849,414 (GRCm39) S63P probably benign Het
Eml2 G A 7: 18,913,364 (GRCm39) A121T probably benign Het
Eps8 T C 6: 137,491,325 (GRCm39) N351S probably damaging Het
Fbxo34 T A 14: 47,768,454 (GRCm39) W605R probably damaging Het
Foxg1 T A 12: 49,432,082 (GRCm39) S272T possibly damaging Het
Gal3st3 T A 19: 5,357,808 (GRCm39) Y394* probably null Het
Gga1 A G 15: 78,773,275 (GRCm39) E301G probably damaging Het
Ifitm5 T A 7: 140,529,149 (GRCm39) *153Y probably null Het
Ighg2b G T 12: 113,270,907 (GRCm39) P110Q probably damaging Het
Il17rb C T 14: 29,718,601 (GRCm39) D494N probably benign Het
Lcn9 A G 2: 25,714,773 (GRCm39) T171A probably benign Het
Lcorl T C 5: 45,891,130 (GRCm39) K408E possibly damaging Het
Myh14 T A 7: 44,264,927 (GRCm39) R1653* probably null Het
Naa16 A T 14: 79,593,311 (GRCm39) H420Q probably damaging Het
Nol8 T A 13: 49,815,224 (GRCm39) V426E possibly damaging Het
Or1i2 A T 10: 78,447,901 (GRCm39) D191E possibly damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pabir3 G A X: 52,382,376 (GRCm39) R94H possibly damaging Het
Papln C T 12: 83,830,166 (GRCm39) T1012I probably null Het
Pkd1 A G 17: 24,789,004 (GRCm39) T921A probably benign Het
Pknox1 C A 17: 31,821,790 (GRCm39) Q294K probably damaging Het
Ppp2ca A G 11: 51,989,928 (GRCm39) N18S probably benign Het
Serpinb9d A G 13: 33,386,657 (GRCm39) probably null Het
Sfxn5 T A 6: 85,192,724 (GRCm39) E319V probably benign Het
Slc1a1 A G 19: 28,878,852 (GRCm39) K197R probably benign Het
Spef2 A G 15: 9,667,366 (GRCm39) F774S probably damaging Het
Syp A G X: 7,506,166 (GRCm39) probably null Het
Zfp276 A G 8: 123,994,564 (GRCm39) T544A probably 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
R4191:Irf2bp2 UTSW 8 127,320,084 (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'- CAAAGTGAGTATCCTCCAGCC -3'
(R):5'- TTGGCTGTCCACTTCCACAG -3'

Sequencing Primer
(F):5'- GCTGCCAGAGAGGAGTCTG -3'
(R):5'- TTCCACAGAAGGGCTCAAGATC -3'
Posted On 2015-06-10