Mutagenetix > Incidental Mutation

Incidental Mutation 'R0014:Hmox2'

19092

Institutional Source

Beutler Lab

Gene Symbol

Hmox2

Ensembl Gene

ENSMUSG00000004070

Gene Name

heme oxygenase 2

Synonyms

HO2, HO-2

MMRRC Submission

038309-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0014 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

4544225-4584606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4582897 bp (GRCm39)

Zygosity

Heterozygous

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] [ENSMUST00000147225] [ENSMUST00000154117] [ENSMUST00000140367]

AlphaFold

O70252

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	228	6.8e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140187

Predicted Effect

probably benign
Transcript: ENSMUST00000147225

SMART Domains

Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000154117

SMART Domains

Protein: ENSMUSP00000122699
Gene: ENSMUSG00000004070

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	1	65	1.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140367

SMART Domains

Protein: ENSMUSP00000115932
Gene: ENSMUSG00000004070

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	93	1.6e-21	PFAM

Meta Mutation Damage Score

0.7719

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	C	T	12: 21,386,645 (GRCm39)	E445K	probably benign	Het
Als2	A	G	1: 59,250,547 (GRCm39)	V399A	possibly damaging	Het
Ankrd52	C	A	10: 128,222,321 (GRCm39)	T583K	probably benign	Het
Ccr5	T	C	9: 123,924,658 (GRCm39)	F87S	probably damaging	Het
Clcc1	T	A	3: 108,568,712 (GRCm39)	C10*	probably null	Het
Cngb3	T	C	4: 19,396,685 (GRCm39)	I346T	probably benign	Het
Degs1l	T	C	1: 180,882,696 (GRCm39)	F153L	possibly damaging	Het
Dmbx1	G	T	4: 115,775,221 (GRCm39)	T358K	probably damaging	Het
Dnai3	T	C	3: 145,787,178 (GRCm39)		probably null	Het
Dpyd	T	C	3: 118,935,584 (GRCm39)	S670P	probably damaging	Het
Epc2	A	T	2: 49,412,537 (GRCm39)	K172*	probably null	Het
Exog	T	C	9: 119,281,344 (GRCm39)	I218T	probably damaging	Het
F2rl2	A	T	13: 95,837,417 (GRCm39)	N154I	probably damaging	Het
Fbxo30	T	A	10: 11,165,603 (GRCm39)	Y108*	probably null	Het
Fhad1	A	T	4: 141,655,719 (GRCm39)	L795Q	probably damaging	Het
Fyttd1	G	A	16: 32,725,924 (GRCm39)	R175Q	probably damaging	Het
Gbp5	T	A	3: 142,212,496 (GRCm39)	C395S	probably damaging	Het
Gen1	T	C	12: 11,291,642 (GRCm39)	N716D	probably benign	Het
Gucy1b1	T	C	3: 81,947,168 (GRCm39)	D347G	probably damaging	Het
Helz2	A	G	2: 180,882,304 (GRCm39)	L163P	probably damaging	Het
Khdrbs3	A	G	15: 68,896,684 (GRCm39)	T115A	probably benign	Het
Lrrk2	T	C	15: 91,686,248 (GRCm39)		probably benign	Het
Ncoa6	A	C	2: 155,279,963 (GRCm39)	S18A	possibly damaging	Het
Neb	G	A	2: 52,177,168 (GRCm39)	A1391V	probably damaging	Het
Nek6	T	C	2: 38,448,856 (GRCm39)		probably benign	Het
Pclo	C	T	5: 14,730,465 (GRCm39)		probably benign	Het
Pex1	G	A	5: 3,676,141 (GRCm39)		probably benign	Het
Pi4kb	T	G	3: 94,906,208 (GRCm39)	I612S	probably damaging	Het
Pitx2	T	G	3: 129,012,148 (GRCm39)	S193A	possibly damaging	Het
Psma8	A	G	18: 14,859,587 (GRCm39)	I86V	possibly damaging	Het
Slc7a2	T	C	8: 41,364,065 (GRCm39)	L426P	probably damaging	Het
Tut1	T	A	19: 8,939,811 (GRCm39)	L265Q	possibly damaging	Het
Zfp458	A	G	13: 67,406,154 (GRCm39)	V95A	possibly damaging	Het

Other mutations in Hmox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4453001:Hmox2	UTSW	16	4,582,921 (GRCm39)	missense	probably damaging	1.00
R0014:Hmox2	UTSW	16	4,582,897 (GRCm39)	missense	probably damaging	0.99
R0396:Hmox2	UTSW	16	4,583,627 (GRCm39)	missense	probably benign	0.02
R2323:Hmox2	UTSW	16	4,583,720 (GRCm39)	nonsense	probably null
R5913:Hmox2	UTSW	16	4,582,732 (GRCm39)	missense	probably damaging	1.00
R8826:Hmox2	UTSW	16	4,583,866 (GRCm39)	missense	possibly damaging	0.90
R9529:Hmox2	UTSW	16	4,582,818 (GRCm39)	nonsense	probably null
R9564:Hmox2	UTSW	16	4,582,870 (GRCm39)	missense	probably damaging	1.00
Z1177:Hmox2	UTSW	16	4,574,992 (GRCm39)	intron	probably benign

Posted On

2013-03-25