Incidental Mutation 'R0014:Hmox2'
ID19092
Institutional Source Beutler Lab
Gene Symbol Hmox2
Ensembl Gene ENSMUSG00000004070
Gene Nameheme oxygenase 2
SynonymsHO2, HO-2
MMRRC Submission 038309-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0014 (G1)
Quality Score
Status Validated
Chromosome16
Chromosomal Location4726361-4766742 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4765033 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 210 (L210Q)
Ref Sequence ENSEMBL: ENSMUSP00000112397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004172] [ENSMUST00000004173] [ENSMUST00000117713] [ENSMUST00000118703] [ENSMUST00000118885] [ENSMUST00000120232] [ENSMUST00000121529] [ENSMUST00000140367] [ENSMUST00000147225] [ENSMUST00000154117]
Predicted Effect probably damaging
Transcript: ENSMUST00000004172
AA Change: L210Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004172
Gene: ENSMUSG00000004070
AA Change: L210Q

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 235 2e-83 PFAM
transmembrane domain 295 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000004173
SMART Domains Protein: ENSMUSP00000004173
Gene: ENSMUSG00000004071

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 77 110 N/A INTRINSIC
LITAF 137 206 4.1e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117713
SMART Domains Protein: ENSMUSP00000113618
Gene: ENSMUSG00000004071

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 81 93 N/A INTRINSIC
LITAF 120 189 4.1e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118703
SMART Domains Protein: ENSMUSP00000113889
Gene: ENSMUSG00000004071

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 77 110 N/A INTRINSIC
LITAF 137 206 4.1e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118885
AA Change: L210Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113110
Gene: ENSMUSG00000004070
AA Change: L210Q

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 235 2e-83 PFAM
transmembrane domain 295 314 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120232
AA Change: L210Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112397
Gene: ENSMUSG00000004070
AA Change: L210Q

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 235 2e-83 PFAM
transmembrane domain 295 314 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000121529
AA Change: L210Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112378
Gene: ENSMUSG00000004070
AA Change: L210Q

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 228 6.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140187
Predicted Effect probably benign
Transcript: ENSMUST00000140367
SMART Domains Protein: ENSMUSP00000115932
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 93 1.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147225
SMART Domains Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
low complexity region 67 100 N/A INTRINSIC
Pfam:zf-LITAF-like 123 163 3.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152667
Predicted Effect probably benign
Transcript: ENSMUST00000154117
SMART Domains Protein: ENSMUSP00000122699
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 1 65 1.9e-22 PFAM
Meta Mutation Damage Score 0.7719 question?
Coding Region Coverage
  • 1x: 75.1%
  • 3x: 61.1%
  • 10x: 30.7%
  • 20x: 14.1%
Validation Efficiency 90% (62/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene are normal for the most part. However, they are sensitive to incrreases and decreases in oxygen levels and this results in some behavioral and nervous system response abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130409I23Rik T C 1: 181,055,131 F153L possibly damaging Het
Adam17 C T 12: 21,336,644 E445K probably benign Het
Als2 A G 1: 59,211,388 V399A possibly damaging Het
Ankrd52 C A 10: 128,386,452 T583K probably benign Het
Ccr5 T C 9: 124,124,621 F87S probably damaging Het
Clcc1 T A 3: 108,661,396 C10* probably null Het
Cngb3 T C 4: 19,396,685 I346T probably benign Het
Dmbx1 G T 4: 115,918,024 T358K probably damaging Het
Dpyd T C 3: 119,141,935 S670P probably damaging Het
Epc2 A T 2: 49,522,525 K172* probably null Het
Exog T C 9: 119,452,278 I218T probably damaging Het
F2rl2 A T 13: 95,700,909 N154I probably damaging Het
Fbxo30 T A 10: 11,289,859 Y108* probably null Het
Fhad1 A T 4: 141,928,408 L795Q probably damaging Het
Fyttd1 G A 16: 32,905,554 R175Q probably damaging Het
Gbp5 T A 3: 142,506,735 C395S probably damaging Het
Gen1 T C 12: 11,241,641 N716D probably benign Het
Gucy1b1 T C 3: 82,039,861 D347G probably damaging Het
Helz2 A G 2: 181,240,511 L163P probably damaging Het
Khdrbs3 A G 15: 69,024,835 T115A probably benign Het
Lrrk2 T C 15: 91,802,045 probably benign Het
Ncoa6 A C 2: 155,438,043 S18A possibly damaging Het
Neb G A 2: 52,287,156 A1391V probably damaging Het
Nek6 T C 2: 38,558,844 probably benign Het
Pclo C T 5: 14,680,451 probably benign Het
Pex1 G A 5: 3,626,141 probably benign Het
Pi4kb T G 3: 94,998,897 I612S probably damaging Het
Pitx2 T G 3: 129,218,499 S193A possibly damaging Het
Psma8 A G 18: 14,726,530 I86V possibly damaging Het
Slc7a2 T C 8: 40,911,028 L426P probably damaging Het
Tut1 T A 19: 8,962,447 L265Q possibly damaging Het
Wdr63 T C 3: 146,081,423 probably null Het
Zfp458 A G 13: 67,258,090 V95A possibly damaging Het
Other mutations in Hmox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4453001:Hmox2 UTSW 16 4765057 missense probably damaging 1.00
R0014:Hmox2 UTSW 16 4765033 missense probably damaging 0.99
R0396:Hmox2 UTSW 16 4765763 missense probably benign 0.02
R2323:Hmox2 UTSW 16 4765856 nonsense probably null
R5913:Hmox2 UTSW 16 4764868 missense probably damaging 1.00
Z1177:Hmox2 UTSW 16 4757128
Posted On2013-03-25