Mutagenetix > Incidental Mutation

Incidental Mutation 'R9266:Azin2'

702535

Institutional Source

Beutler Lab

Gene Symbol

Azin2

Ensembl Gene

ENSMUSG00000028789

Gene Name

antizyme inhibitor 2

Synonyms

Adc, Odcp, 4933429I20Rik, AZIN2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9266 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

128824026-128856235 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 128856230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122240 (fasta)

Gene Model

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

AlphaFold

Q8BVM4

Predicted Effect

probably benign
Transcript: ENSMUST00000030581

SMART Domains

Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789

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

SMART Domains

Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789

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

SMART Domains

Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	A	17: 36,270,178 (GRCm39)	E627*	probably null	Het
Aoc1l2	A	G	6: 48,907,171 (GRCm39)	N57S	probably benign	Het
Arhgap42	A	G	9: 9,006,386 (GRCm39)	V670A	probably benign	Het
Arhgef16	C	A	4: 154,375,922 (GRCm39)	R24L	probably benign	Het
Atad2	A	T	15: 57,985,967 (GRCm39)	D251E	probably benign	Het
Atf2	T	C	2: 73,649,271 (GRCm39)	S447G	probably benign	Het
Atp8b1	T	C	18: 64,704,108 (GRCm39)	M337V	probably benign	Het
Atp8b1	C	T	18: 64,710,528 (GRCm39)	D170N	possibly damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh19	A	G	1: 110,817,771 (GRCm39)	L657P	probably damaging	Het
Crybg3	A	T	16: 59,372,544 (GRCm39)	V598E	probably damaging	Het
Cwc22	A	G	2: 77,754,952 (GRCm39)	I208T	probably benign	Het
Cyp4a32	T	A	4: 115,468,307 (GRCm39)	D292E	probably damaging	Het
Dnah10	G	A	5: 124,845,990 (GRCm39)	V1510I	probably benign	Het
Dpp3	G	T	19: 4,964,686 (GRCm39)	Y540*	probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Elf1	A	G	14: 79,798,290 (GRCm39)	D59G	probably benign	Het
Epc1	A	T	18: 6,449,219 (GRCm39)	M476K	probably benign	Het
Espnl	C	A	1: 91,272,771 (GRCm39)	S710R	probably benign	Het
Fam171b	T	C	2: 83,683,926 (GRCm39)	W148R	probably damaging	Het
Fhod1	A	G	8: 106,065,531 (GRCm39)	L88P	unknown	Het
Frmd4a	A	G	2: 4,610,846 (GRCm39)	S999G	probably damaging	Het
Glmp	T	C	3: 88,233,036 (GRCm39)	I58T	probably damaging	Het
Gm45861	T	A	8: 28,074,674 (GRCm39)	D1341E	unknown	Het
Gpr179	A	G	11: 97,227,766 (GRCm39)	I1463T	probably benign	Het
Gsdmc2	T	C	15: 63,698,088 (GRCm39)	E339G	probably damaging	Het
Insm1	A	T	2: 146,064,933 (GRCm39)	I250F	probably damaging	Het
Insm1	G	A	2: 146,064,943 (GRCm39)	G253D	possibly damaging	Het
Itih1	A	T	14: 30,652,222 (GRCm39)	S824T	probably damaging	Het
Lactb	A	G	9: 66,878,499 (GRCm39)	Y190H	possibly damaging	Het
Lrba	T	C	3: 86,198,774 (GRCm39)	M197T	probably benign	Het
Lrrc4c	A	G	2: 97,459,853 (GRCm39)	I160V	probably benign	Het
Lrrc59	A	T	11: 94,532,044 (GRCm39)		probably null	Het
Ltk	A	T	2: 119,585,121 (GRCm39)	M425K	possibly damaging	Het
Map9	T	C	3: 82,278,594 (GRCm39)	V198A	possibly damaging	Het
Mms22l	T	C	4: 24,578,878 (GRCm39)	Y746H	probably damaging	Het
Ms4a4b	A	G	19: 11,432,060 (GRCm39)	I60M	probably benign	Het
Mtif2	T	C	11: 29,480,065 (GRCm39)	W44R	probably benign	Het
Nadsyn1	A	T	7: 143,369,348 (GRCm39)	W128R	probably damaging	Het
Nrcam	G	A	12: 44,636,917 (GRCm39)	A1117T	probably damaging	Het
Ntng1	G	A	3: 110,050,923 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 110,051,162 (GRCm39)	F56L	unknown	Het
Oas2	A	T	5: 120,887,637 (GRCm39)	Y68N	probably damaging	Het
Or4c119	A	T	2: 88,986,854 (GRCm39)	F222I	possibly damaging	Het
Or5b101	A	C	19: 13,005,648 (GRCm39)	L15R	probably damaging	Het
Or6c6c	T	C	10: 129,541,547 (GRCm39)	S267P	probably benign	Het
Pals2	T	C	6: 50,140,463 (GRCm39)	M161T	probably benign	Het
Paqr8	C	T	1: 21,005,863 (GRCm39)	T339I	probably benign	Het
Pcdhga10	A	G	18: 37,881,814 (GRCm39)	E525G	probably benign	Het
Psg28	T	G	7: 18,161,752 (GRCm39)	L250F	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc16a4	A	T	3: 107,199,788 (GRCm39)	T12S	probably benign	Het
Slc9b1	A	G	3: 135,054,468 (GRCm39)		probably benign	Het
Slit3	T	C	11: 35,598,808 (GRCm39)	S1471P	probably damaging	Het
Smpdl3a	T	C	10: 57,678,596 (GRCm39)	V133A	possibly damaging	Het
Snap23	C	T	2: 120,414,781 (GRCm39)		probably benign	Het
Spp2	A	G	1: 88,344,975 (GRCm39)	M146V	probably benign	Het
Syf2	C	A	4: 134,663,321 (GRCm39)	N164K	possibly damaging	Het
Sync	T	G	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Tex56	A	G	13: 35,116,569 (GRCm39)	K106R	possibly damaging	Het
Tmigd3	T	C	3: 105,824,216 (GRCm39)	F62L	probably benign	Het
Trpa1	C	T	1: 14,980,953 (GRCm39)		probably null	Het
U2surp	A	T	9: 95,366,468 (GRCm39)	I480N	probably damaging	Het
Usf3	C	T	16: 44,040,095 (GRCm39)	T1525I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,057 (GRCm39)	I841M	probably damaging	Het
Zfp335	T	A	2: 164,738,007 (GRCm39)	Q868L	probably benign	Het
Zscan10	A	G	17: 23,828,385 (GRCm39)	E309G	possibly damaging	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
R9595:Azin2	UTSW	4	128,853,617 (GRCm39)	missense	probably benign	0.03
T0722:Azin2	UTSW	4	128,839,927 (GRCm39)	missense	probably benign	0.00
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

PCR Primer
(F):5'- AACTTGTGCAACACCCCGAG -3'
(R):5'- AGTCAGCCAGCTTGCTTAG -3'

Sequencing Primer
(F):5'- CAACACCCCGAGGAGGAG -3'
(R):5'- GCTTGCTTAGCTGCGCAG -3'

Posted On

2022-03-25