Mutagenetix > Incidental Mutation

Incidental Mutation 'R5913:Hmox2'

461145

Institutional Source

Beutler Lab

Gene Symbol

Hmox2

Ensembl Gene

ENSMUSG00000004070

Gene Name

heme oxygenase 2

Synonyms

HO2, HO-2

MMRRC Submission

044110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5913 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4544225-4584606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4582732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 155 (R155L)

Ref Sequence

ENSEMBL: ENSMUSP00000112378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004172] [ENSMUST00000004173] [ENSMUST00000117713] [ENSMUST00000118703] [ENSMUST00000118885] [ENSMUST00000120232] [ENSMUST00000121529] [ENSMUST00000140367] [ENSMUST00000147225] [ENSMUST00000154117]

AlphaFold

O70252

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004172
AA Change: R155L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000004172
Gene: ENSMUSG00000004070
AA Change: R155L

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

possibly damaging
Transcript: ENSMUST00000118885
AA Change: R155L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113110
Gene: ENSMUSG00000004070
AA Change: R155L

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: ENSMUST00000120232
AA Change: R155L

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112397
Gene: ENSMUSG00000004070
AA Change: R155L

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: ENSMUST00000121529
AA Change: R155L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112378
Gene: ENSMUSG00000004070
AA Change: R155L

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: ENSMUST00000140367

SMART Domains

Protein: ENSMUSP00000115932
Gene: ENSMUSG00000004070

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

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

Meta Mutation Damage Score

0.9464

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

97% (75/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2cl	A	T	9: 110,718,773 (GRCm39)		probably null	Het
Arhgef19	A	T	4: 140,976,609 (GRCm39)	H457L	probably benign	Het
Armc3	A	G	2: 19,314,858 (GRCm39)	Y856C	possibly damaging	Het
Bdp1	A	T	13: 100,187,612 (GRCm39)	V1585D	probably benign	Het
Bhlhe40	T	G	6: 108,642,154 (GRCm39)	M366R	possibly damaging	Het
Bora	C	T	14: 99,305,948 (GRCm39)	S439L	probably benign	Het
Cacnb4	G	A	2: 52,324,796 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,498,848 (GRCm39)	S529P	probably benign	Het
Cd200r1	A	G	16: 44,610,034 (GRCm39)	I84M	possibly damaging	Het
Cd209a	A	G	8: 3,798,742 (GRCm39)	S22P	probably benign	Het
Celf2	A	T	2: 7,085,969 (GRCm39)	M1K	probably null	Het
Cep112	A	G	11: 108,648,514 (GRCm39)	T783A	probably damaging	Het
Cep95	T	C	11: 106,709,335 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,131,760 (GRCm39)	R366K	probably benign	Het
Csmd2	A	G	4: 128,445,781 (GRCm39)	K3284E	probably benign	Het
Csn3	T	A	5: 88,075,470 (GRCm39)	L12Q	probably damaging	Het
Ctdnep1	T	C	11: 69,879,691 (GRCm39)	L39P	probably damaging	Het
Cxcl17	C	T	7: 25,101,671 (GRCm39)	W55*	probably null	Het
Cyp2u1	G	A	3: 131,096,860 (GRCm39)		probably benign	Het
Dmgdh	A	T	13: 93,888,831 (GRCm39)	E823V	possibly damaging	Het
Dnah2	T	C	11: 69,339,256 (GRCm39)	I3078V	probably damaging	Het
Dpp10	A	C	1: 123,312,018 (GRCm39)	Y446D	probably damaging	Het
Eif2s3y	T	C	Y: 1,017,365 (GRCm39)	V290A	probably benign	Homo
Fktn	G	A	4: 53,735,035 (GRCm39)	W224*	probably null	Het
Gm37240	T	C	3: 84,874,905 (GRCm39)		probably benign	Het
Gpr3	A	G	4: 132,938,489 (GRCm39)	V61A	probably damaging	Het
Gulo	T	C	14: 66,237,470 (GRCm39)		probably null	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,462,037 (GRCm39)	I968K	possibly damaging	Het
Ifnlr1	C	A	4: 135,432,580 (GRCm39)	Q339K	probably damaging	Het
Ifnlr1	A	T	4: 135,432,581 (GRCm39)	Q339L	probably damaging	Het
Irf4	T	A	13: 30,941,741 (GRCm39)	S365T	probably benign	Het
Klrb1a	T	G	6: 128,595,472 (GRCm39)	D124A	probably damaging	Het
Macf1	A	T	4: 123,369,832 (GRCm39)	I78N	probably damaging	Het
Mctp1	G	T	13: 76,907,944 (GRCm39)		probably null	Het
Muc21	C	T	17: 35,934,123 (GRCm39)		probably benign	Het
Mxra8	A	T	4: 155,927,760 (GRCm39)		probably null	Het
Nlrp2	T	A	7: 5,327,902 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
P2ry13	T	C	3: 59,116,786 (GRCm39)	T331A	probably benign	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Pcdhb15	A	T	18: 37,607,707 (GRCm39)	Q313L	probably benign	Het
Pcdhga11	A	G	18: 37,889,045 (GRCm39)	I18V	probably benign	Het
Pcdhga11	A	G	18: 37,891,142 (GRCm39)	R717G	probably benign	Het
Pcif1	C	A	2: 164,726,412 (GRCm39)		probably benign	Het
Pkd1l1	T	C	11: 8,813,849 (GRCm39)	T1501A	probably benign	Het
Plekhg2	C	A	7: 28,064,027 (GRCm39)	R473L	probably damaging	Het
Plekhn1	T	C	4: 156,307,152 (GRCm39)	Y466C	probably damaging	Het
Sec22c	A	G	9: 121,519,368 (GRCm39)	S83P	possibly damaging	Het
Sgcz	T	A	8: 37,993,425 (GRCm39)	Q224L	possibly damaging	Het
Slc27a1	C	T	8: 72,036,907 (GRCm39)	P381L	probably benign	Het
Slc8a1	T	A	17: 81,955,431 (GRCm39)	I536F	probably damaging	Het
Src	T	A	2: 157,307,950 (GRCm39)		probably null	Het
Sybu	T	A	15: 44,651,017 (GRCm39)	T96S	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,929 (GRCm39)	Y363H	probably damaging	Het
Tdrd6	T	C	17: 43,939,302 (GRCm39)	E582G	possibly damaging	Het
Tmem131	C	A	1: 36,858,209 (GRCm39)	V713L	probably benign	Het
Tnfsf13b	T	A	8: 10,056,988 (GRCm39)	L49Q	probably damaging	Het
Trem2	T	A	17: 48,653,661 (GRCm39)		probably benign	Het
Tspyl3	T	A	2: 153,066,636 (GRCm39)	M201L	probably benign	Het
Ttl	A	G	2: 128,917,961 (GRCm39)	D141G	probably benign	Het
Ube2z	A	G	11: 95,951,889 (GRCm39)	V153A	possibly damaging	Het
Ubr3	A	G	2: 69,851,559 (GRCm39)	Y1842C	probably damaging	Het
Usp33	T	C	3: 152,086,229 (GRCm39)	V656A	probably damaging	Het
Vmn2r74	G	A	7: 85,601,098 (GRCm39)	R847C	probably damaging	Het
Vmo1	A	T	11: 70,405,241 (GRCm39)	V63D	probably damaging	Het
Zcwpw1	T	A	5: 137,798,269 (GRCm39)	D155E	probably benign	Het
Zeb1	T	G	18: 5,766,765 (GRCm39)	S425R	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
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
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'- ATTTCCCCACGGAGCTACAC -3'
(R):5'- AGTGCTCAGTAATACCTGCATG -3'

Sequencing Primer
(F):5'- CCAGAAGTATGTGGATCGG -3'
(R):5'- CTTTGGTCTTCAAATTCAGGTCCAAG -3'

Posted On

2017-02-28