Mutagenetix > Incidental Mutation

Incidental Mutation 'T0722:Azin2'

262104

Institutional Source

Beutler Lab

Gene Symbol

Azin2

Ensembl Gene

ENSMUSG00000028789

Gene Name

antizyme inhibitor 2

Synonyms

Adc, Odcp, 4933429I20Rik, AZIN2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

T0722 (G3) of strain 711

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128824026-128856235 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128839927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 222 (Y222H)

Ref Sequence

ENSEMBL: ENSMUSP00000114086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030581] [ENSMUST00000106068] [ENSMUST00000119354] [ENSMUST00000147731]

AlphaFold

Q8BVM4

Predicted Effect

probably benign
Transcript: ENSMUST00000030581
AA Change: Y317H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789
AA Change: Y317H

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	45	283	1.9e-69	PFAM
Pfam:Orn_DAP_Arg_deC	286	407	1.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106068
AA Change: Y317H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789
AA Change: Y317H

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	45	283	6.7e-73	PFAM
Pfam:Orn_DAP_Arg_deC	287	406	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119354
AA Change: Y222H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789
AA Change: Y222H

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	1	188	4.2e-54	PFAM
Pfam:Orn_DAP_Arg_deC	191	312	4.3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143912

Predicted Effect

probably benign
Transcript: ENSMUST00000147731

SMART Domains

Protein: ENSMUSP00000122240
Gene: ENSMUSG00000028789

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	2	202	4e-56	PFAM

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

95% (42/44)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased circulating insulin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,453,197 (GRCm39)	T5A	possibly damaging	Het
Adam6b	T	A	12: 113,454,888 (GRCm39)	D568E	probably benign	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ago3	T	G	4: 126,298,089 (GRCm39)	T144P	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Atp6v1g3	T	A	1: 138,201,591 (GRCm39)		probably benign	Het
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cdk5r1	G	T	11: 80,368,707 (GRCm39)	V125F	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Cngb1	A	G	8: 96,023,278 (GRCm39)	M240T	probably benign	Het
Cngb1	G	A	8: 96,030,342 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 96,030,324 (GRCm39)		probably benign	Het
Cngb1	G	T	8: 96,024,447 (GRCm39)	Q205K	probably damaging	Het
Cog8	G	T	8: 107,775,625 (GRCm39)	L580I	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,456,755 (GRCm39)	F696S	probably benign	Het
Ddi2	G	A	4: 141,440,784 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,807,841 (GRCm39)	D984G	probably null	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Fstl3	A	G	10: 79,615,997 (GRCm39)	Y161C	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm8186	C	T	17: 26,318,101 (GRCm39)	R32Q	probably benign	Het
Jakmip1	C	A	5: 37,276,247 (GRCm39)	A519D	probably damaging	Het
Jcad	G	T	18: 4,675,531 (GRCm39)	A1098S	probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Mmp13	G	T	9: 7,280,857 (GRCm39)	M413I	possibly damaging	Het
Mmp25	G	A	17: 23,850,192 (GRCm39)	A456V	possibly damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh8	G	A	11: 67,195,262 (GRCm39)	R1692Q	probably benign	Het
Nbas	A	G	12: 13,402,809 (GRCm39)	I788V	probably benign	Het
Nup188	A	G	2: 30,212,693 (GRCm39)	D632G	probably damaging	Het
Opa1	T	C	16: 29,429,748 (GRCm39)		probably null	Het
Or12k7	T	G	2: 36,958,449 (GRCm39)	L44R	probably damaging	Het
Or1n2	T	C	2: 36,797,582 (GRCm39)	V208A	probably benign	Het
Or4c114	A	G	2: 88,905,303 (GRCm39)	V44A	probably benign	Het
Or5w17	T	A	2: 87,583,467 (GRCm39)	Y290F	probably damaging	Het
Pabpc1l	G	A	2: 163,884,340 (GRCm39)	G359D	possibly damaging	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Psma5-ps	A	G	10: 85,149,457 (GRCm39)		noncoding transcript	Het
Qser1	A	G	2: 104,617,177 (GRCm39)	C1122R	possibly damaging	Het
Rfx8	A	G	1: 39,722,772 (GRCm39)	S282P	probably damaging	Het
Sec14l2	C	T	11: 4,053,673 (GRCm39)		probably null	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc30a6	T	A	17: 74,719,319 (GRCm39)		probably null	Het
Smarcc1	G	A	9: 110,035,153 (GRCm39)	E859K	possibly damaging	Het
Snx1	CTT	CTTGTT	9: 66,012,209 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Spta1	A	G	1: 174,018,632 (GRCm39)		probably benign	Het
Sytl1	C	A	4: 132,984,162 (GRCm39)		probably benign	Het
Sytl1	A	G	4: 132,984,164 (GRCm39)		probably benign	Het
Tent4a	G	A	13: 69,655,074 (GRCm39)	R224*	probably null	Het
Terf2	T	C	8: 107,803,306 (GRCm39)	K425E	probably benign	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Uck2	A	T	1: 167,062,280 (GRCm39)	D149E	probably benign	Het
Wnt5a	G	A	14: 28,233,882 (GRCm39)	A17T	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het

Other mutations in Azin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00932:Azin2	APN	4	128,844,459 (GRCm39)	missense	probably damaging	1.00
IGL02040:Azin2	APN	4	128,844,451 (GRCm39)	missense	possibly damaging	0.78
IGL03349:Azin2	APN	4	128,839,907 (GRCm39)	nonsense	probably null
R0118:Azin2	UTSW	4	128,843,430 (GRCm39)	missense	probably damaging	0.97
R1215:Azin2	UTSW	4	128,843,489 (GRCm39)	missense	probably damaging	0.96
R1940:Azin2	UTSW	4	128,844,577 (GRCm39)	splice site	probably null
R2939:Azin2	UTSW	4	128,828,397 (GRCm39)	missense	probably benign	0.44
R4899:Azin2	UTSW	4	128,828,446 (GRCm39)	missense	probably benign	0.43
R5836:Azin2	UTSW	4	128,842,670 (GRCm39)	missense	probably damaging	1.00
R6511:Azin2	UTSW	4	128,828,259 (GRCm39)	missense	probably damaging	1.00
R9059:Azin2	UTSW	4	128,828,440 (GRCm39)	missense	probably benign	0.03
R9209:Azin2	UTSW	4	128,841,341 (GRCm39)	missense	probably damaging	0.99
R9266:Azin2	UTSW	4	128,856,230 (GRCm39)	unclassified	probably benign
R9595:Azin2	UTSW	4	128,853,617 (GRCm39)	missense	probably benign	0.03
T0975:Azin2	UTSW	4	128,839,927 (GRCm39)	missense	probably benign	0.00
Z1176:Azin2	UTSW	4	128,828,452 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

Posted On

2015-02-04