Mutagenetix > Incidental Mutation

Incidental Mutation 'R2323:Hmox2'

244819

Institutional Source

Beutler Lab

Gene Symbol

Hmox2

Ensembl Gene

ENSMUSG00000004070

Gene Name

heme oxygenase 2

Synonyms

HO2, HO-2

MMRRC Submission

040314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4544225-4584606 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 4583720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 263 (K263*)

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 null
Transcript: ENSMUST00000004172
AA Change: K263*

SMART Domains

Protein: ENSMUSP00000004172
Gene: ENSMUSG00000004070
AA Change: K263*

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 null
Transcript: ENSMUST00000118885
AA Change: K263*

SMART Domains

Protein: ENSMUSP00000113110
Gene: ENSMUSG00000004070
AA Change: K263*

Domain	Start	End	E-Value	Type
Pfam:Heme_oxygenase	30	235	2e-83	PFAM
transmembrane domain	295	314	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120232
AA Change: K263*

SMART Domains

Protein: ENSMUSP00000112397
Gene: ENSMUSG00000004070
AA Change: K263*

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: ENSMUST00000121529

SMART Domains

Protein: ENSMUSP00000112378
Gene: ENSMUSG00000004070

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140187

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152667

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	T	2: 25,335,187 (GRCm39)	M2008I	probably benign	Het
Adgrv1	A	G	13: 81,743,298 (GRCm39)	S68P	probably damaging	Het
Albfm1	T	A	5: 90,732,711 (GRCm39)	Y507*	probably null	Het
Anks3	T	C	16: 4,768,634 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,969 (GRCm39)	I160T	probably damaging	Het
Asb15	T	A	6: 24,556,600 (GRCm39)	F32I	probably benign	Het
Catip	A	T	1: 74,402,437 (GRCm39)	M103L	probably benign	Het
Cela2a	G	C	4: 141,553,390 (GRCm39)		probably benign	Het
Crebrf	T	C	17: 26,982,581 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,819,064 (GRCm39)	M450T	probably damaging	Het
Dst	T	C	1: 34,267,518 (GRCm39)	S5165P	possibly damaging	Het
Esrp2	T	A	8: 106,860,934 (GRCm39)	D196V	probably benign	Het
Ints10	A	G	8: 69,271,997 (GRCm39)	H566R	probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Liph	A	G	16: 21,802,754 (GRCm39)	V105A	probably damaging	Het
Myo1e	T	A	9: 70,286,040 (GRCm39)	Y941*	probably null	Het
Myo7b	T	C	18: 32,104,398 (GRCm39)	E1450G	probably damaging	Het
Myt1	G	T	2: 181,448,350 (GRCm39)	A594S	probably damaging	Het
Npas3	T	A	12: 54,115,129 (GRCm39)	Y666N	probably damaging	Het
Npsr1	A	G	9: 24,211,732 (GRCm39)	K240E	probably damaging	Het
Or52h7	T	C	7: 104,213,826 (GRCm39)	F133L	probably benign	Het
Rtkn2	A	G	10: 67,837,764 (GRCm39)	I102M	probably damaging	Het
Rundc1	T	C	11: 101,316,101 (GRCm39)	F58L	probably damaging	Het
Snrpc	T	G	17: 28,066,948 (GRCm39)	M91R	unknown	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tnfrsf21	C	A	17: 43,396,420 (GRCm39)	S568*	probably null	Het
Tulp1	C	T	17: 28,581,456 (GRCm39)	G239D	probably damaging	Het
Vmn1r234	T	C	17: 21,449,965 (GRCm39)	I293T	probably benign	Het
Vmn1r26	T	C	6: 57,985,842 (GRCm39)	K116E	probably damaging	Het
Vmn2r98	T	A	17: 19,286,081 (GRCm39)	I193K	probably benign	Het
Wnk4	T	A	11: 101,159,307 (GRCm39)	S575T	probably damaging	Het
Zfp558	A	T	9: 18,380,573 (GRCm39)		probably null	Het
Zscan18	T	C	7: 12,509,386 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCCATGGGTCATCTGTAGAGTG -3'
(R):5'- CAAGAGTCCAGCTACCAAGG -3'

Sequencing Primer
(F):5'- ATGGGTCATCTGTAGAGTGTAAATTC -3'
(R):5'- TGCAGGCTAGGCTTCCTCAG -3'

Posted On

2014-10-30