Incidental Mutation 'R0400:Ireb2'
ID 38140
Institutional Source Beutler Lab
Gene Symbol Ireb2
Ensembl Gene ENSMUSG00000032293
Gene Name iron responsive element binding protein 2
Synonyms Irp2, D9Ertd85e
MMRRC Submission 038605-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0400 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 54771073-54819814 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 54803782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 491 (R491H)
Ref Sequence ENSEMBL: ENSMUSP00000034843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034843]
AlphaFold Q811J3
Predicted Effect probably benign
Transcript: ENSMUST00000034843
AA Change: R491H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: R491H

DomainStartEndE-ValueType
Pfam:Aconitase 59 155 6.5e-16 PFAM
Pfam:Aconitase 186 639 2e-129 PFAM
Pfam:Aconitase_C 767 896 1.5e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214023
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
MGI Phenotype PHENOTYPE: Homozygous disruption of this gene results in microcytic anemia, altered body iron homeostasis, and variable behavioral and neurological phenotypes that may include pathological signs of neurodegeneration or brain iron accumulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik T A 11: 30,376,360 (GRCm39) H169L probably benign Het
9130230L23Rik T C 5: 66,147,699 (GRCm39) D28G unknown Het
Abca12 T A 1: 71,298,935 (GRCm39) probably benign Het
Acsl5 T C 19: 55,282,143 (GRCm39) V573A probably damaging Het
Agap1 A G 1: 89,770,972 (GRCm39) probably benign Het
Arid2 A G 15: 96,254,806 (GRCm39) probably benign Het
B430305J03Rik T A 3: 61,271,556 (GRCm39) probably benign Het
Brsk2 T C 7: 141,552,290 (GRCm39) L584P probably damaging Het
C2cd4c A G 10: 79,449,043 (GRCm39) Y35H probably damaging Het
Cacul1 A G 19: 60,551,591 (GRCm39) probably benign Het
Cers3 T C 7: 66,414,078 (GRCm39) V88A probably benign Het
Cnnm1 A T 19: 43,456,803 (GRCm39) H614L probably damaging Het
Col1a1 T A 11: 94,832,195 (GRCm39) probably benign Het
Cyp1b1 T A 17: 80,021,016 (GRCm39) D242V probably damaging Het
Cyp4a31 T C 4: 115,420,915 (GRCm39) M1T probably null Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Dclk2 A T 3: 86,721,054 (GRCm39) probably null Het
Dnah17 A G 11: 117,972,904 (GRCm39) S2010P probably damaging Het
Dram2 T C 3: 106,480,934 (GRCm39) L246P probably damaging Het
Dus2 A T 8: 106,775,309 (GRCm39) T279S probably benign Het
Epn2 T C 11: 61,423,522 (GRCm39) probably null Het
Esco2 C A 14: 66,069,155 (GRCm39) V52F possibly damaging Het
Fbp1 T A 13: 63,012,882 (GRCm39) T104S probably benign Het
Foxj2 A T 6: 122,810,767 (GRCm39) Q249L possibly damaging Het
Galnt7 T C 8: 58,037,023 (GRCm39) Y122C probably damaging Het
Gimd1 T C 3: 132,340,588 (GRCm39) Y35H probably benign Het
Gipc2 A G 3: 151,871,305 (GRCm39) F74L probably damaging Het
Glt1d1 T A 5: 127,734,139 (GRCm39) probably benign Het
Hmcn2 A G 2: 31,290,141 (GRCm39) T2325A probably damaging Het
Iffo1 A G 6: 125,130,434 (GRCm39) K471R probably damaging Het
Isg20 A G 7: 78,566,473 (GRCm39) N141D possibly damaging Het
Kmt5c G A 7: 4,749,243 (GRCm39) R100H probably benign Het
Lrp1b T C 2: 40,640,926 (GRCm39) D3506G probably benign Het
Lrrn4 A C 2: 132,719,940 (GRCm39) F287V probably benign Het
Maco1 T C 4: 134,555,427 (GRCm39) K349E probably benign Het
Mmrn1 A C 6: 60,954,099 (GRCm39) K793N probably benign Het
Muc16 A G 9: 18,421,830 (GRCm39) V8227A possibly damaging Het
Myh2 C T 11: 67,083,424 (GRCm39) probably benign Het
Nalcn T A 14: 123,528,372 (GRCm39) probably benign Het
Nfia T C 4: 97,951,373 (GRCm39) V400A probably damaging Het
Nxph4 T A 10: 127,362,127 (GRCm39) T255S possibly damaging Het
Olfm5 G A 7: 103,803,386 (GRCm39) T359I probably damaging Het
Or1e33 T C 11: 73,738,867 (GRCm39) Y28C probably benign Het
Or5t18 A G 2: 86,636,995 (GRCm39) M116T probably damaging Het
Or8b44 A G 9: 38,410,207 (GRCm39) M81V possibly damaging Het
Or8g21 G T 9: 38,906,494 (GRCm39) P79Q probably damaging Het
Pak5 T C 2: 135,939,499 (GRCm39) I545M possibly damaging Het
Pcdhb15 T C 18: 37,608,948 (GRCm39) F727L probably benign Het
Pds5b T A 5: 150,646,818 (GRCm39) N202K possibly damaging Het
Phlpp1 T A 1: 106,320,664 (GRCm39) I1553N probably benign Het
Pink1 T C 4: 138,045,229 (GRCm39) T282A probably damaging Het
Prdm2 A G 4: 142,838,240 (GRCm39) F1706S probably benign Het
Pycr1 G A 11: 120,532,352 (GRCm39) probably benign Het
Rigi A G 4: 40,235,257 (GRCm39) Y78H probably benign Het
Skint9 A G 4: 112,271,198 (GRCm39) S71P probably damaging Het
Smad1 A G 8: 80,098,399 (GRCm39) probably benign Het
Snapc5 A T 9: 64,087,789 (GRCm39) E33D probably damaging Het
Snrnp40 T C 4: 130,256,443 (GRCm39) L56P probably damaging Het
Stab2 A C 10: 86,708,474 (GRCm39) I1697S probably damaging Het
Tfap2a G T 13: 40,870,888 (GRCm39) probably benign Het
Tph2 A G 10: 114,916,025 (GRCm39) probably benign Het
Triml1 A G 8: 43,594,077 (GRCm39) V118A probably benign Het
Ttbk2 T A 2: 120,580,723 (GRCm39) T538S probably benign Het
Ttn A G 2: 76,545,616 (GRCm39) V32569A possibly damaging Het
U2af1 T A 17: 31,867,166 (GRCm39) Y158F probably benign Het
Usp7 A T 16: 8,534,496 (GRCm39) probably benign Het
Vdr A G 15: 97,767,232 (GRCm39) S179P probably benign Het
Vps13d A C 4: 144,792,397 (GRCm39) S663A probably benign Het
Wdr62 T A 7: 29,940,887 (GRCm39) T844S possibly damaging Het
Wipi1 C T 11: 109,467,956 (GRCm39) R407Q probably damaging Het
Zbtb43 A G 2: 33,343,909 (GRCm39) C439R probably damaging Het
Zfp507 T A 7: 35,491,171 (GRCm39) H704L probably damaging Het
Zzef1 G A 11: 72,786,068 (GRCm39) R2080K probably damaging Het
Other mutations in Ireb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Ireb2 APN 9 54,806,766 (GRCm39) splice site probably benign
IGL01576:Ireb2 APN 9 54,799,794 (GRCm39) missense probably damaging 1.00
IGL01844:Ireb2 APN 9 54,772,641 (GRCm39) missense probably benign 0.01
bonkers UTSW 9 54,803,779 (GRCm39) missense probably benign 0.00
homicidal UTSW 9 54,793,851 (GRCm39) nonsense probably null
remorseless UTSW 9 54,789,617 (GRCm39) missense possibly damaging 0.83
tony_stark UTSW 9 54,811,245 (GRCm39) missense probably damaging 1.00
R0143:Ireb2 UTSW 9 54,793,193 (GRCm39) missense probably benign 0.06
R0279:Ireb2 UTSW 9 54,793,877 (GRCm39) missense probably benign
R0565:Ireb2 UTSW 9 54,807,267 (GRCm39) missense probably damaging 1.00
R0686:Ireb2 UTSW 9 54,811,460 (GRCm39) missense probably benign 0.44
R0706:Ireb2 UTSW 9 54,799,770 (GRCm39) missense probably benign
R0894:Ireb2 UTSW 9 54,803,861 (GRCm39) missense probably damaging 1.00
R1101:Ireb2 UTSW 9 54,816,986 (GRCm39) missense probably benign 0.35
R1680:Ireb2 UTSW 9 54,788,802 (GRCm39) missense probably damaging 1.00
R2074:Ireb2 UTSW 9 54,788,733 (GRCm39) missense probably benign
R2080:Ireb2 UTSW 9 54,803,836 (GRCm39) missense possibly damaging 0.85
R2891:Ireb2 UTSW 9 54,807,274 (GRCm39) missense probably benign 0.01
R3153:Ireb2 UTSW 9 54,793,230 (GRCm39) critical splice donor site probably null
R3154:Ireb2 UTSW 9 54,793,230 (GRCm39) critical splice donor site probably null
R3844:Ireb2 UTSW 9 54,799,789 (GRCm39) missense probably damaging 0.99
R4128:Ireb2 UTSW 9 54,788,716 (GRCm39) missense probably benign 0.32
R4803:Ireb2 UTSW 9 54,814,098 (GRCm39) missense probably benign 0.01
R5097:Ireb2 UTSW 9 54,802,668 (GRCm39) missense probably benign 0.04
R5159:Ireb2 UTSW 9 54,799,831 (GRCm39) missense probably benign
R5227:Ireb2 UTSW 9 54,803,885 (GRCm39) critical splice donor site probably null
R5767:Ireb2 UTSW 9 54,807,800 (GRCm39) missense probably benign
R6005:Ireb2 UTSW 9 54,816,089 (GRCm39) missense probably damaging 1.00
R6127:Ireb2 UTSW 9 54,789,652 (GRCm39) missense probably benign
R6155:Ireb2 UTSW 9 54,793,811 (GRCm39) missense probably damaging 1.00
R6170:Ireb2 UTSW 9 54,794,656 (GRCm39) missense probably benign 0.00
R6341:Ireb2 UTSW 9 54,816,064 (GRCm39) missense probably damaging 0.99
R6707:Ireb2 UTSW 9 54,811,245 (GRCm39) missense probably damaging 1.00
R6973:Ireb2 UTSW 9 54,789,671 (GRCm39) missense probably benign 0.00
R7108:Ireb2 UTSW 9 54,813,925 (GRCm39) missense probably damaging 1.00
R7126:Ireb2 UTSW 9 54,793,851 (GRCm39) nonsense probably null
R7314:Ireb2 UTSW 9 54,799,794 (GRCm39) missense probably damaging 1.00
R7396:Ireb2 UTSW 9 54,789,617 (GRCm39) missense possibly damaging 0.83
R7472:Ireb2 UTSW 9 54,791,338 (GRCm39) missense probably benign 0.11
R7590:Ireb2 UTSW 9 54,803,779 (GRCm39) missense probably benign 0.00
R7842:Ireb2 UTSW 9 54,816,970 (GRCm39) missense probably benign 0.01
R7894:Ireb2 UTSW 9 54,789,620 (GRCm39) missense probably damaging 1.00
R8443:Ireb2 UTSW 9 54,811,265 (GRCm39) missense possibly damaging 0.94
R8902:Ireb2 UTSW 9 54,799,786 (GRCm39) missense probably benign 0.03
R9323:Ireb2 UTSW 9 54,811,523 (GRCm39) critical splice donor site probably null
R9505:Ireb2 UTSW 9 54,813,921 (GRCm39) missense probably damaging 1.00
R9643:Ireb2 UTSW 9 54,789,730 (GRCm39) missense possibly damaging 0.69
RF006:Ireb2 UTSW 9 54,788,768 (GRCm39) missense possibly damaging 0.73
Predicted Primers PCR Primer
(F):5'- TGGACCTTCTGAATGGTGTGGACC -3'
(R):5'- CCCAAGCAATACCTGCTGAGTAGTG -3'

Sequencing Primer
(F):5'- GGACCTTATGTGTCACAGTAGAAC -3'
(R):5'- GGGTTTTTTCAAAAGCTACCTTCTG -3'
Posted On 2013-05-23