Mutagenetix > Incidental Mutation

Incidental Mutation 'R8277:Hao2'

638017

Institutional Source

Beutler Lab

Gene Symbol

Hao2

Ensembl Gene

ENSMUSG00000027870

Gene Name

hydroxyacid oxidase 2

Synonyms

Hao3

MMRRC Submission

067700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8277 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98781837-98800555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98787700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 243 (I243T)

Ref Sequence

ENSEMBL: ENSMUSP00000029464 (fasta)

Gene Model

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

AlphaFold

Q9NYQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029464
AA Change: I243T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: I243T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	A	19: 57,204,351 (GRCm39)	L13F	probably benign	Het
Apoe	C	T	7: 19,432,303 (GRCm39)		probably benign	Het
Arap2	A	G	5: 62,771,335 (GRCm39)		probably null	Het
Aspm	T	C	1: 139,382,748 (GRCm39)	S27P	probably damaging	Het
Atcay	C	A	10: 81,050,646 (GRCm39)	D90Y	probably damaging	Het
Cd46	A	T	1: 194,747,030 (GRCm39)	D327E	probably damaging	Het
Cfh	A	G	1: 140,029,347 (GRCm39)	W1001R	probably damaging	Het
Chrm2	G	A	6: 36,500,211 (GRCm39)	V23M	probably benign	Het
Col1a2	G	A	6: 4,516,410 (GRCm39)	G175R	probably null	Het
Ddx52	T	C	11: 83,845,940 (GRCm39)	S422P	probably damaging	Het
Dync2i2	A	G	2: 29,923,886 (GRCm39)	V213A	probably benign	Het
Entr1	G	A	2: 26,274,778 (GRCm39)	A373V	probably damaging	Het
Gucy2d	T	A	7: 98,092,682 (GRCm39)	W20R	probably benign	Het
Hmcn2	A	C	2: 31,259,189 (GRCm39)	T1010P	probably benign	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Kat2b	T	A	17: 53,948,281 (GRCm39)	D350E	probably benign	Het
Lingo4	A	G	3: 94,309,931 (GRCm39)	S290G	possibly damaging	Het
Mmrn1	A	G	6: 60,954,220 (GRCm39)	T834A	probably benign	Het
Mro	A	T	18: 73,997,132 (GRCm39)		probably benign	Het
Mrps26	T	A	2: 130,406,347 (GRCm39)	L160Q	probably damaging	Het
Myh8	T	C	11: 67,183,735 (GRCm39)	I788T	probably benign	Het
Nab2	G	A	10: 127,501,168 (GRCm39)		probably benign	Het
Nr2c2ap	C	T	8: 70,585,131 (GRCm39)	Q67*	probably null	Het
Or1p1b	C	T	11: 74,130,842 (GRCm39)	L151F	probably benign	Het
Pask	C	T	1: 93,253,085 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,592,755 (GRCm39)	S736R	probably damaging	Het
Per2	G	T	1: 91,348,274 (GRCm39)	D1109E	probably benign	Het
Plxna1	G	A	6: 89,334,162 (GRCm39)	H156Y	probably damaging	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Rbpms2	T	A	9: 65,556,695 (GRCm39)	F45Y	probably damaging	Het
Rmdn3	T	C	2: 118,976,905 (GRCm39)	D276G	probably damaging	Het
Septin2	T	A	1: 93,427,030 (GRCm39)	I171K	probably benign	Het
Serpinb3a	C	A	1: 106,973,970 (GRCm39)	G314C	probably damaging	Het
Slc35f3	T	A	8: 127,115,925 (GRCm39)	V284D	possibly damaging	Het
Snapc4	A	G	2: 26,255,722 (GRCm39)	V934A	probably benign	Het
Tctn1	A	G	5: 122,402,431 (GRCm39)	M1T	probably null	Het
Tgoln1	G	A	6: 72,593,838 (GRCm39)		probably benign	Het
Unc5c	G	A	3: 141,474,373 (GRCm39)		probably null	Het
Vmn2r11	A	T	5: 109,202,833 (GRCm39)	F81L	probably benign	Het
Vmn2r15	A	T	5: 109,440,970 (GRCm39)	V296E	probably benign	Het
Vmn2r15	C	T	5: 109,441,310 (GRCm39)	D183N	probably damaging	Het
Zfp763	T	C	17: 33,252,294 (GRCm39)		probably benign	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
R5760:Hao2	UTSW	3	98,787,748 (GRCm39)	nonsense	probably null
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
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'- ACCATCCTTAAGATCCATAGGC -3'
(R):5'- TGCTCCAAATGCACCTCATC -3'

Sequencing Primer
(F):5'- CCATAGGCAATATCATGATAAGGC -3'
(R):5'- GCATTCATTTGGGTCTAAGAGTCATC -3'

Posted On

2020-07-28