Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Hao2'

543827

Institutional Source

Beutler Lab

Gene Symbol

Hao2

Ensembl Gene

ENSMUSG00000027870

Gene Name

hydroxyacid oxidase 2

Synonyms

Hao3

MMRRC Submission

045097-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98781837-98800555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98784068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 327 (E327V)

Ref Sequence

ENSEMBL: ENSMUSP00000029464 (fasta)

Gene Model

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

AlphaFold

Q9NYQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000029464
AA Change: E327V

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

SMART Domains

Protein: ENSMUSP00000029464
Gene: ENSMUSG00000027870
AA Change: E327V

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: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,279,871 (GRCm39)	V278D	probably damaging	Het
Akap12	G	T	10: 4,307,122 (GRCm39)	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,415,957 (GRCm39)	D186V	probably benign	Het
Birc6	A	G	17: 74,869,090 (GRCm39)	E346G	probably damaging	Het
Brd10	A	G	19: 29,696,508 (GRCm39)	L995S	possibly damaging	Het
Ccr7	A	C	11: 99,036,130 (GRCm39)	V264G	probably damaging	Het
Col7a1	T	C	9: 108,812,987 (GRCm39)		probably null	Het
Coq8a	T	C	1: 180,006,633 (GRCm39)	T132A	probably benign	Het
Cplane1	A	G	15: 8,281,690 (GRCm39)	E2843G	unknown	Het
Cyp2b10	G	A	7: 25,616,780 (GRCm39)	S407N	probably benign	Het
Ddi2	A	G	4: 141,412,561 (GRCm39)	V117A	probably benign	Het
Ddx42	G	A	11: 106,129,970 (GRCm39)	V421I	probably damaging	Het
Dip2c	T	A	13: 9,601,896 (GRCm39)	L285*	probably null	Het
Dip2c	C	T	13: 9,684,868 (GRCm39)	S1232F	probably damaging	Het
Dner	T	A	1: 84,454,123 (GRCm39)	R402*	probably null	Het
Dpysl3	A	T	18: 43,486,956 (GRCm39)	I317N	probably damaging	Het
Dusp23	T	A	1: 172,459,224 (GRCm39)	Y146F	probably benign	Het
Eef1a2	C	A	2: 180,790,421 (GRCm39)	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489 (GRCm39)	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,334,858 (GRCm39)	C284S	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hdhd5	A	G	6: 120,487,130 (GRCm39)	V409A	probably damaging	Het
Kif9	T	C	9: 110,323,690 (GRCm39)	Y236H	probably damaging	Het
Kri1	T	C	9: 21,199,050 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,021,098 (GRCm39)	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,023,319 (GRCm39)	N982S	probably damaging	Het
Mapk8	T	C	14: 33,132,841 (GRCm39)	I32V	possibly damaging	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mstn	T	C	1: 53,101,100 (GRCm39)	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,763,384 (GRCm39)	E315G	probably damaging	Het
Notch4	G	T	17: 34,803,774 (GRCm39)	E1515*	probably null	Het
Npw	A	C	17: 24,877,029 (GRCm39)	V124G	probably benign	Het
Nxph3	A	G	11: 95,402,244 (GRCm39)	S57P	probably damaging	Het
Opn4	A	T	14: 34,315,864 (GRCm39)	L390M	probably benign	Het
Or12e10	G	A	2: 87,640,787 (GRCm39)	D208N	possibly damaging	Het
Or52e4	T	C	7: 104,705,771 (GRCm39)	I106T	probably damaging	Het
Or5b95	G	T	19: 12,658,112 (GRCm39)	L213F	probably benign	Het
Or5g23	T	C	2: 85,438,592 (GRCm39)	I221V	possibly damaging	Het
Or5p68	T	A	7: 107,945,295 (GRCm39)	N298Y	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,986 (GRCm39)	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,752,114 (GRCm39)	V107M	probably damaging	Het
Pramel33	T	A	5: 93,632,233 (GRCm39)	N107I	probably damaging	Het
Prorsd1	A	C	11: 29,464,486 (GRCm39)		probably benign	Het
Prox2	A	G	12: 85,134,165 (GRCm39)	L587P	probably benign	Het
Prr22	A	G	17: 57,078,345 (GRCm39)	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,686 (GRCm39)	R1592Q	probably benign	Het
Rarg	C	G	15: 102,150,350 (GRCm39)	R74P	probably damaging	Het
Rcan1	A	G	16: 92,194,251 (GRCm39)	V54A	probably benign	Het
Rmdn2	A	G	17: 79,928,739 (GRCm39)		probably benign	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,820,092 (GRCm39)	T385A	probably benign	Het
Slc44a3	T	C	3: 121,325,814 (GRCm39)	Y12C	probably benign	Het
Smg1	C	A	7: 117,767,091 (GRCm39)		probably benign	Het
Spock3	A	G	8: 63,808,415 (GRCm39)	*437W	probably null	Het
Sugct	T	A	13: 17,728,965 (GRCm39)	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tnks	C	A	8: 35,301,647 (GRCm39)	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,038,521 (GRCm39)	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,299,869 (GRCm39)	S251*	probably null	Het
Vmn2r15	T	A	5: 109,441,180 (GRCm39)	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 84,804,953 (GRCm39)	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,598,372 (GRCm39)	N132S	probably benign	Het
Wdr73	T	G	7: 80,541,604 (GRCm39)	T313P	probably benign	Het
Zfp65	C	T	13: 67,856,640 (GRCm39)	R213Q	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
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
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'- TCAGTGAGCAGTTCTTGATCTC -3'
(R):5'- AGTCCTTGACTCAGGCTTTC -3'

Sequencing Primer
(F):5'- GCAGTTCTTGATCTCTTTGTAAAAC -3'
(R):5'- GACTCAGGCTTTCCCCACTTG -3'

Posted On

2019-05-13