Mutagenetix > Incidental Mutation

Incidental Mutation 'R0050:Oaz2'

64257

Institutional Source

Beutler Lab

Gene Symbol

Oaz2

Ensembl Gene

ENSMUSG00000040652

Gene Name

ornithine decarboxylase antizyme 2

Synonyms

Oaz2-ps, AZ2, antizyme 2, AZ-2, Sez15

MMRRC Submission

038344-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0050 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

65583830-65597582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65595084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 61 (E61G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046490] [ENSMUST00000136166] [ENSMUST00000153700] [ENSMUST00000159109]

AlphaFold

O08608

Predicted Effect

probably benign
Transcript: ENSMUST00000046490
AA Change: E60G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000136873
Gene: ENSMUSG00000040652
AA Change: E60G

Domain	Start	End	E-Value	Type
Pfam:ODC_AZ	81	180	3.3e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128928

Predicted Effect

probably benign
Transcript: ENSMUST00000136166
AA Change: E61G

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136082
Gene: ENSMUSG00000040652
AA Change: E61G

Domain	Start	End	E-Value	Type
PDB:1ZO0\|A	56	119	9e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137696

Predicted Effect

probably damaging
Transcript: ENSMUST00000147732
AA Change: E61G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136701
Gene: ENSMUSG00000040652
AA Change: E61G

Domain	Start	End	E-Value	Type
PDB:1ZO0\|A	56	117	2e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000153700
AA Change: E61G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000136914
Gene: ENSMUSG00000040652
AA Change: E61G

Domain	Start	End	E-Value	Type
Pfam:ODC_AZ	79	181	1.8e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154502

Predicted Effect

probably benign
Transcript: ENSMUST00000159109

SMART Domains

Protein: ENSMUSP00000124089
Gene: ENSMUSG00000040524

Domain	Start	End	E-Value	Type
low complexity region	83	101	N/A	INTRINSIC
low complexity region	125	139	N/A	INTRINSIC
low complexity region	155	176	N/A	INTRINSIC
low complexity region	259	269	N/A	INTRINSIC
low complexity region	365	376	N/A	INTRINSIC
low complexity region	386	405	N/A	INTRINSIC
ZnF_C2H2	495	520	2.14e0	SMART
low complexity region	629	638	N/A	INTRINSIC
low complexity region	657	667	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	1000	1020	N/A	INTRINSIC
low complexity region	1210	1219	N/A	INTRINSIC
low complexity region	1257	1273	N/A	INTRINSIC
low complexity region	1329	1348	N/A	INTRINSIC

Meta Mutation Damage Score

0.1262

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo; however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,036,417 (GRCm39)	C564Y	probably damaging	Het
Adamts2	T	C	11: 50,666,222 (GRCm39)	V406A	probably damaging	Het
Ankar	T	A	1: 72,695,323 (GRCm39)	E1093D	probably damaging	Het
Arhgef38	C	A	3: 132,837,957 (GRCm39)	D75Y	probably damaging	Het
Atg4b	T	A	1: 93,715,440 (GRCm39)		probably benign	Het
Cadm2	A	G	16: 66,750,154 (GRCm39)		probably benign	Het
Ces2c	T	A	8: 105,574,831 (GRCm39)	M96K	probably benign	Het
Dmrt3	C	A	19: 25,599,953 (GRCm39)	P266H	probably damaging	Het
Dock9	A	G	14: 121,844,637 (GRCm39)	V1124A	probably benign	Het
Edem1	T	C	6: 108,805,809 (GRCm39)	F37L	possibly damaging	Het
Ermp1	C	A	19: 29,606,184 (GRCm39)	A190S	probably damaging	Het
Gm10267	T	A	18: 44,289,520 (GRCm39)		probably benign	Het
Golga2	T	A	2: 32,182,139 (GRCm39)	V29D	probably damaging	Het
Gprc6a	T	A	10: 51,491,485 (GRCm39)	M755L	probably damaging	Het
H1f8	G	T	6: 115,924,729 (GRCm39)	K78N	probably damaging	Het
Lama3	T	A	18: 12,537,160 (GRCm39)	H268Q	probably damaging	Het
Lrriq1	A	G	10: 102,904,792 (GRCm39)	V1614A	probably damaging	Het
Pear1	G	T	3: 87,663,294 (GRCm39)	Y441*	probably null	Het
Pkhd1l1	A	T	15: 44,437,203 (GRCm39)	T3493S	possibly damaging	Het
Plekhg5	T	C	4: 152,192,545 (GRCm39)		probably null	Het
Ppp3cb	A	G	14: 20,581,820 (GRCm39)	V65A	possibly damaging	Het
Rheb	A	T	5: 25,022,832 (GRCm39)		probably benign	Het
Ros1	G	A	10: 51,977,899 (GRCm39)	T1449M	probably damaging	Het
Septin4	T	C	11: 87,458,172 (GRCm39)	L182S	probably damaging	Het
Slc6a12	T	C	6: 121,337,378 (GRCm39)		probably benign	Het
Stx2	A	G	5: 129,076,572 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,892,299 (GRCm39)	D764E	probably damaging	Het
Trmt2a	A	T	16: 18,068,707 (GRCm39)	E234D	probably damaging	Het

Other mutations in Oaz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0050:Oaz2	UTSW	9	65,595,084 (GRCm39)	missense	probably damaging	1.00
R1782:Oaz2	UTSW	9	65,596,143 (GRCm39)	missense	probably benign	0.07
R7341:Oaz2	UTSW	9	65,596,183 (GRCm39)	missense
R7863:Oaz2	UTSW	9	65,596,449 (GRCm39)	missense	possibly damaging	0.64
R8059:Oaz2	UTSW	9	65,596,425 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAATTGGCTGACCTAGAGGTCTGTC -3'
(R):5'- GGTTACTACAAGAACAGTGCCCAATCC -3'

Sequencing Primer
(F):5'- AGAGGTCTGTCTTTGAAATGACCC -3'
(R):5'- GGTATAGACTCCCCTATAAAGCTG -3'

Posted On

2013-08-06