Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:Hao2'

529527

Institutional Source

Beutler Lab

Gene Symbol

Hao2

Ensembl Gene

ENSMUSG00000027870

Gene Name

hydroxyacid oxidase 2

Synonyms

Hao3

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98781837-98800555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98784451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 305 (I305L)

Ref Sequence

ENSEMBL: ENSMUSP00000029464 (fasta)

Gene Model

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

AlphaFold

Q9NYQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000029464
AA Change: I305L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: I305L

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

Meta Mutation Damage Score

0.2065

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,181,997 (GRCm39)	E51K	possibly damaging	Het
Abca1	A	C	4: 53,083,733 (GRCm39)	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,038,032 (GRCm39)		probably null	Het
Baz2b	G	T	2: 59,755,234 (GRCm39)	P241Q	probably damaging	Het
Cd6	T	A	19: 10,771,973 (GRCm39)	T414S	probably benign	Het
Ces2b	A	T	8: 105,563,501 (GRCm39)	E409D	probably benign	Het
Cfap54	A	G	10: 92,656,981 (GRCm39)	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,655,912 (GRCm39)	T206A	probably benign	Het
Clptm1l	T	C	13: 73,766,635 (GRCm39)	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552 (GRCm39)		probably null	Het
Cox15	A	G	19: 43,725,228 (GRCm39)	S392P	probably damaging	Het
Cplx3	A	G	9: 57,521,355 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,837,508 (GRCm39)	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,453,723 (GRCm39)	K1281E	probably benign	Het
Dnah11	A	G	12: 118,009,381 (GRCm39)	F2094L	probably damaging	Het
Ear2	T	A	14: 44,340,416 (GRCm39)	C25S	probably damaging	Het
Ect2l	T	C	10: 18,016,012 (GRCm39)	D802G	probably damaging	Het
Eftud2	G	A	11: 102,729,449 (GRCm39)	Q84*	probably null	Het
Eif4g3	T	A	4: 137,903,143 (GRCm39)		probably null	Het
Ephb2	T	C	4: 136,384,813 (GRCm39)	D866G	probably damaging	Het
Farsb	A	G	1: 78,449,134 (GRCm39)	M99T	probably damaging	Het
Foxs1	T	A	2: 152,774,640 (GRCm39)	S138C	probably damaging	Het
Frem1	T	G	4: 82,932,069 (GRCm39)	S211R	probably damaging	Het
Gm19410	G	A	8: 36,274,730 (GRCm39)	R1517Q	probably benign	Het
Gria2	T	C	3: 80,709,611 (GRCm39)	I27M	probably benign	Het
H2-Q7	A	G	17: 35,661,654 (GRCm39)	E299G	probably benign	Het
Hectd4	C	T	5: 121,445,444 (GRCm39)	Q122*	probably null	Het
Hivep1	T	A	13: 42,317,760 (GRCm39)	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,257,813 (GRCm39)	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,253,772 (GRCm39)	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,542,126 (GRCm39)	R117S	probably damaging	Het
Ino80d	A	C	1: 63,097,769 (GRCm39)	S708R	probably damaging	Het
Mmp15	A	G	8: 96,091,942 (GRCm39)	N51D	probably benign	Het
Naip1	T	C	13: 100,559,585 (GRCm39)	M1140V	probably benign	Het
Niban2	T	A	2: 32,795,838 (GRCm39)	V22D	probably damaging	Het
Or1e1f	A	G	11: 73,856,291 (GRCm39)	N286D	probably damaging	Het
Or2y8	A	G	11: 52,035,520 (GRCm39)	V279A	probably benign	Het
Or8b41	T	A	9: 38,054,449 (GRCm39)	M1K	probably null	Het
Or8k21	A	G	2: 86,145,409 (GRCm39)	S74P	probably damaging	Het
Pard3b	A	T	1: 62,198,629 (GRCm39)	N239I	probably damaging	Het
Parvb	C	T	15: 84,182,180 (GRCm39)	R237W	probably damaging	Het
Pcdha9	T	C	18: 37,131,122 (GRCm39)	S64P	probably damaging	Het
Pdcd1	T	C	1: 93,969,114 (GRCm39)	N68S	probably benign	Het
Pi4ka	G	T	16: 17,143,916 (GRCm39)		probably null	Het
Plekha4	A	T	7: 45,190,310 (GRCm39)	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,921,792 (GRCm39)	I78V	probably benign	Het
Slc39a7	T	A	17: 34,249,082 (GRCm39)	T269S	probably benign	Het
Sltm	T	G	9: 70,480,992 (GRCm39)	D281E	probably damaging	Het
Zfp708	T	C	13: 67,219,496 (GRCm39)	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,263,497 (GRCm39)	V165D	possibly 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
R5760:Hao2	UTSW	3	98,787,748 (GRCm39)	nonsense	probably null
R6129:Hao2	UTSW	3	98,787,842 (GRCm39)	missense	probably benign	0.00
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'- GTCAAGGACTCTGAAGTATGTGG -3'
(R):5'- ACTTTGAGAGGAACATTCATCCC -3'

Sequencing Primer
(F):5'- TGGAACACTTTAGAAGCCTGAAG -3'
(R):5'- TTGAGAGGAACATTCATCCCATGAC -3'

Posted On

2018-08-01