Mutagenetix > Incidental Mutation

Incidental Mutation 'R5760:Hao2'

445230

Institutional Source

Beutler Lab

Gene Symbol

Hao2

Ensembl Gene

ENSMUSG00000027870

Gene Name

hydroxyacid oxidase 2

Synonyms

Hao3

MMRRC Submission

043362-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5760 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98781837-98800555 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98787748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 227 (L227*)

Ref Sequence

ENSEMBL: ENSMUSP00000029464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029464]

AlphaFold

Q9NYQ2

Predicted Effect

probably null
Transcript: ENSMUST00000029464
AA Change: L227*

SMART Domains

Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: L227*

Domain	Start	End	E-Value	Type
Pfam:FMN_dh	13	350	1.8e-127	PFAM
Pfam:Glu_synthase	258	314	1.1e-6	PFAM

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Electrophoretic variants are known for this locus in kidney. The a allele determines a slow anodally migrating band in all inbred strains tested; the b allele determines a fast band in M. m. castaneus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,835 (GRCm39)		probably benign	Het
Abl2	C	T	1: 156,469,427 (GRCm39)	T793M	probably benign	Het
Accs	A	C	2: 93,676,105 (GRCm39)	L90R	probably damaging	Het
Ahnak	A	T	19: 8,990,926 (GRCm39)	D4070V	probably damaging	Het
Apbb2	A	G	5: 66,520,100 (GRCm39)	V475A	probably benign	Het
Atp10d	T	A	5: 72,418,280 (GRCm39)	V602E	probably benign	Het
Cdh23	C	T	10: 60,242,171 (GRCm39)	V1088M	probably damaging	Het
Dennd6a	A	T	14: 26,333,195 (GRCm39)	I144L	probably damaging	Het
Dnajc6	G	A	4: 101,475,839 (GRCm39)	A571T	probably benign	Het
Drap1	A	G	19: 5,474,391 (GRCm39)	I18T	probably damaging	Het
En2	C	A	5: 28,371,997 (GRCm39)	A158D	probably benign	Het
Fbn1	C	T	2: 125,203,167 (GRCm39)	G1219R	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm7535	C	T	17: 18,132,080 (GRCm39)		probably benign	Het
Hdlbp	C	T	1: 93,368,499 (GRCm39)		probably benign	Het
Hivep3	A	G	4: 119,952,208 (GRCm39)	K175E	possibly damaging	Het
Hmcn2	G	A	2: 31,304,580 (GRCm39)	A3075T	possibly damaging	Het
Igkv6-15	A	T	6: 70,383,516 (GRCm39)	I95N	probably damaging	Het
Itgad	A	T	7: 127,802,537 (GRCm39)	Q1001L	probably benign	Het
Jaml	T	A	9: 45,009,052 (GRCm39)	M151K	probably benign	Het
Lix1	T	A	17: 17,647,499 (GRCm39)	V55D	possibly damaging	Het
Macf1	A	G	4: 123,407,677 (GRCm39)	S179P	probably damaging	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mroh5	A	C	15: 73,693,356 (GRCm39)	I28S	probably damaging	Het
Naip5	T	G	13: 100,379,346 (GRCm39)	K231N	probably damaging	Het
Neb	A	C	2: 52,073,830 (GRCm39)	Y5683D	probably damaging	Het
Npc1l1	A	T	11: 6,179,031 (GRCm39)	H126Q	probably benign	Het
Npm2	A	G	14: 70,886,935 (GRCm39)	F110L	probably damaging	Het
Nsd3	A	T	8: 26,149,772 (GRCm39)	H319L	probably damaging	Het
Nup205	G	A	6: 35,224,278 (GRCm39)	R2039Q	probably damaging	Het
Or10j7	C	A	1: 173,011,318 (GRCm39)	A228S	probably benign	Het
Or6b2b	A	G	1: 92,418,922 (GRCm39)	L185P	possibly damaging	Het
Or7d10	A	C	9: 19,832,050 (GRCm39)	T182P	probably benign	Het
Pcdhac2	G	A	18: 37,279,453 (GRCm39)	G811E	probably damaging	Het
Pkhd1	T	A	1: 20,143,778 (GRCm39)	R3849S	probably benign	Het
Pmfbp1	A	T	8: 110,247,655 (GRCm39)	D317V	probably damaging	Het
Sall1	T	C	8: 89,755,278 (GRCm39)	N1234D	possibly damaging	Het
Slc12a7	T	A	13: 73,961,741 (GRCm39)	V1037D	probably damaging	Het
Slc12a8	G	T	16: 33,445,155 (GRCm39)	E404*	probably null	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tgif1	A	G	17: 71,151,996 (GRCm39)	V152A	probably damaging	Het
Tshz3	C	A	7: 36,470,994 (GRCm39)	H994Q	probably damaging	Het
Ubash3b	T	G	9: 40,988,719 (GRCm39)	K62T	probably benign	Het
Ushbp1	G	T	8: 71,840,012 (GRCm39)	D546E	probably damaging	Het
Zfp458	A	C	13: 67,405,853 (GRCm39)	C192W	probably damaging	Het
Zfp808	A	T	13: 62,319,740 (GRCm39)	H323L	probably damaging	Het

Other mutations in Hao2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Hao2	APN	3	98,787,648 (GRCm39)	splice site	probably benign
IGL03279:Hao2	APN	3	98,787,712 (GRCm39)	missense	possibly damaging	0.88
goatherd	UTSW	3	98,784,451 (GRCm39)	missense	probably benign	0.06
R0600:Hao2	UTSW	3	98,790,876 (GRCm39)	splice site	probably benign
R1298:Hao2	UTSW	3	98,790,985 (GRCm39)	missense	possibly damaging	0.94
R3176:Hao2	UTSW	3	98,787,644 (GRCm39)	splice site	probably benign
R3177:Hao2	UTSW	3	98,787,644 (GRCm39)	splice site	probably benign
R3786:Hao2	UTSW	3	98,784,068 (GRCm39)	missense	probably damaging	1.00
R4486:Hao2	UTSW	3	98,789,341 (GRCm39)	missense	probably damaging	1.00
R4487:Hao2	UTSW	3	98,789,341 (GRCm39)	missense	probably damaging	1.00
R4488:Hao2	UTSW	3	98,789,341 (GRCm39)	missense	probably damaging	1.00
R5290:Hao2	UTSW	3	98,784,493 (GRCm39)	missense	probably damaging	0.99
R6129:Hao2	UTSW	3	98,787,842 (GRCm39)	missense	probably benign	0.00
R6720:Hao2	UTSW	3	98,784,451 (GRCm39)	missense	probably benign	0.06
R6861:Hao2	UTSW	3	98,784,498 (GRCm39)	missense	probably damaging	1.00
R6991:Hao2	UTSW	3	98,784,068 (GRCm39)	missense	probably damaging	1.00
R7203:Hao2	UTSW	3	98,784,598 (GRCm39)	splice site	probably null
R8277:Hao2	UTSW	3	98,787,700 (GRCm39)	missense	probably damaging	1.00
R8515:Hao2	UTSW	3	98,790,963 (GRCm39)	missense	probably benign	0.00
R8848:Hao2	UTSW	3	98,784,528 (GRCm39)	missense	probably damaging	1.00
R9335:Hao2	UTSW	3	98,791,010 (GRCm39)	missense	possibly damaging	0.77
R9497:Hao2	UTSW	3	98,784,462 (GRCm39)	missense	probably damaging	1.00
Z1088:Hao2	UTSW	3	98,782,668 (GRCm39)	missense	probably damaging	1.00
Z1177:Hao2	UTSW	3	98,789,357 (GRCm39)	missense	probably damaging	0.98
Z1177:Hao2	UTSW	3	98,789,258 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATAGGCAATATCATGATAAGGCAG -3'
(R):5'- GACAGTGCTCCAAATGCACC -3'

Sequencing Primer
(F):5'- GCAGAGGGCAATTCCTACTAG -3'
(R):5'- CCAAATGCACCTCATCTTTTGAATG -3'

Posted On

2016-11-21