Mutagenetix > Incidental Mutation

Incidental Mutation 'R1940:Azin2'

213910

Institutional Source

Beutler Lab

Gene Symbol

Azin2

Ensembl Gene

ENSMUSG00000028789

Gene Name

antizyme inhibitor 2

Synonyms

Adc, Odcp, 4933429I20Rik, AZIN2

MMRRC Submission

039958-MU

Accession Numbers

Essential gene?

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

Stock #

R1940 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

128824026-128856235 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 128844577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122240 (fasta)

Gene Model

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

AlphaFold

Q8BVM4

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000128820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143912

Predicted Effect

probably null
Transcript: ENSMUST00000147731

SMART Domains

Protein: ENSMUSP00000122240
Gene: ENSMUSG00000028789

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

Predicted Effect

probably null
Transcript: ENSMUST00000147731

SMART Domains

Protein: ENSMUSP00000122240
Gene: ENSMUSG00000028789

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

Predicted Effect

probably null
Transcript: ENSMUST00000147731

SMART Domains

Protein: ENSMUSP00000122240
Gene: ENSMUSG00000028789

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

Predicted Effect

probably null
Transcript: ENSMUST00000147731

SMART Domains

Protein: ENSMUSP00000122240
Gene: ENSMUSG00000028789

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.7%

Validation Efficiency

98% (108/110)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,032,832 (GRCm39)		probably benign	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Acvr1c	A	T	2: 58,173,517 (GRCm39)	N248K	probably damaging	Het
Adam24	A	T	8: 41,134,400 (GRCm39)	R623*	probably null	Het
Agbl2	T	A	2: 90,641,626 (GRCm39)	L752Q	probably damaging	Het
Ankrd26	A	T	6: 118,488,654 (GRCm39)	F1335Y	probably damaging	Het
Ankrd34a	A	G	3: 96,505,992 (GRCm39)	S399G	probably benign	Het
Aoc1l3	A	T	6: 48,967,007 (GRCm39)	K652*	probably null	Het
Ap3d1	G	A	10: 80,545,607 (GRCm39)	P1041S	probably benign	Het
Arid3b	A	T	9: 57,703,431 (GRCm39)	M466K	possibly damaging	Het
Arsj	T	C	3: 126,231,995 (GRCm39)	I247T	probably damaging	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Bcat2	T	C	7: 45,237,792 (GRCm39)	Y313H	possibly damaging	Het
Cables2	A	G	2: 179,901,873 (GRCm39)	V465A	probably damaging	Het
Ccdc60	G	A	5: 116,264,224 (GRCm39)	H517Y	probably damaging	Het
Cd55b	A	T	1: 130,345,843 (GRCm39)		probably null	Het
Cdc40	G	A	10: 40,759,067 (GRCm39)		probably benign	Het
Cdh20	G	A	1: 109,976,754 (GRCm39)	V140I	probably benign	Het
Cdhr18	A	T	14: 13,828,582 (GRCm38)	M726K	probably null	Het
Cfi	T	C	3: 129,652,477 (GRCm39)		probably benign	Het
Chit1	G	A	1: 134,073,156 (GRCm39)		probably null	Het
Chn1	A	G	2: 73,455,245 (GRCm39)	C39R	probably damaging	Het
Ciao1	A	G	2: 127,088,380 (GRCm39)	S148P	possibly damaging	Het
Clmn	G	A	12: 104,756,361 (GRCm39)	T163I	probably damaging	Het
Cngb1	C	A	8: 96,026,320 (GRCm39)	G154W	probably damaging	Het
Col19a1	A	T	1: 24,303,831 (GRCm39)	C1117*	probably null	Het
Cplane1	T	A	15: 8,263,336 (GRCm39)	S2496R	probably damaging	Het
Cyp2d10	T	A	15: 82,289,495 (GRCm39)	I206F	probably benign	Het
Ddrgk1	G	T	2: 130,505,480 (GRCm39)		probably benign	Het
Ddx18	A	T	1: 121,482,953 (GRCm39)	V611D	probably damaging	Het
Dnah8	A	T	17: 30,950,181 (GRCm39)	H2000L	probably damaging	Het
Duox1	T	C	2: 122,156,465 (GRCm39)	V464A	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eif4enif1	A	G	11: 3,193,279 (GRCm39)	H857R	probably damaging	Het
Elmo2	A	G	2: 165,133,970 (GRCm39)		probably benign	Het
Fam171b	CCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGC	2: 83,643,218 (GRCm39)		probably benign	Het
Glrx	A	G	13: 75,988,256 (GRCm39)	I57V	probably benign	Het
Golm1	A	T	13: 59,790,051 (GRCm39)		probably benign	Het
Grm3	G	A	5: 9,561,682 (GRCm39)	R723W	probably damaging	Het
Gsta3	G	A	1: 21,327,601 (GRCm39)	R45Q	probably benign	Het
Gtf3c3	A	C	1: 54,468,117 (GRCm39)		probably benign	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Hoxa10	C	A	6: 52,211,350 (GRCm39)	G189C	possibly damaging	Het
Hs3st3b1	T	C	11: 63,780,569 (GRCm39)	D186G	probably benign	Het
Hscb	G	T	5: 110,983,926 (GRCm39)	H63N	probably benign	Het
Itpr3	A	G	17: 27,330,191 (GRCm39)	E1603G	probably damaging	Het
Ivl	T	A	3: 92,480,056 (GRCm39)	H3L	probably benign	Het
Klhl26	C	A	8: 70,904,911 (GRCm39)	R252L	probably damaging	Het
Krt31	T	A	11: 99,939,069 (GRCm39)	T251S	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lhx3	T	C	2: 26,093,974 (GRCm39)	D83G	probably benign	Het
Lss	C	A	10: 76,381,296 (GRCm39)	N427K	possibly damaging	Het
Mettl24	G	A	10: 40,613,722 (GRCm39)	A154T	probably benign	Het
Mgat4a	A	T	1: 37,575,118 (GRCm39)		probably null	Het
Moxd2	C	T	6: 40,860,466 (GRCm39)	R326Q	probably damaging	Het
Mpdz	G	A	4: 81,279,680 (GRCm39)	A669V	probably benign	Het
Msra	G	A	14: 64,522,505 (GRCm39)		probably benign	Het
Muc13	A	T	16: 33,628,281 (GRCm39)	T344S	probably benign	Het
Myo3b	T	C	2: 70,088,419 (GRCm39)	I866T	probably benign	Het
Nbea	T	C	3: 55,860,521 (GRCm39)	S1852G	possibly damaging	Het
Ncf2	A	G	1: 152,709,815 (GRCm39)		probably benign	Het
Nfyc	C	A	4: 120,630,861 (GRCm39)		probably benign	Het
Nop2	T	C	6: 125,111,597 (GRCm39)	V110A	probably benign	Het
Nrg2	C	A	18: 36,329,897 (GRCm39)		probably benign	Het
Nrl	A	G	14: 55,759,892 (GRCm39)	Y12H	probably damaging	Het
Nrxn3	T	C	12: 89,227,151 (GRCm39)	V635A	probably damaging	Het
Or4d11	A	C	19: 12,013,275 (GRCm39)	V277G	probably benign	Het
Or6b2b	T	A	1: 92,419,457 (GRCm39)	T7S	probably benign	Het
Or8k41	T	A	2: 86,313,703 (GRCm39)	K128*	probably null	Het
Or9g8	T	A	2: 85,607,515 (GRCm39)	S196T	probably benign	Het
Papolg	A	T	11: 23,817,279 (GRCm39)	N639K	probably benign	Het
Paqr4	T	C	17: 23,956,638 (GRCm39)	I242V	probably damaging	Het
Pramel6	A	T	2: 87,339,076 (GRCm39)	K92M	probably damaging	Het
Prg4	T	C	1: 150,331,774 (GRCm39)	T300A	possibly damaging	Het
Ptprb	A	T	10: 116,155,515 (GRCm39)		probably benign	Het
Rab28	A	T	5: 41,783,133 (GRCm39)	S216T	probably benign	Het
Rrp1b	A	T	17: 32,275,819 (GRCm39)	R455S	possibly damaging	Het
Sash1	A	T	10: 8,605,696 (GRCm39)	M898K	probably benign	Het
Scn8a	C	T	15: 100,868,085 (GRCm39)	T310I	probably benign	Het
Secisbp2l	C	A	2: 125,582,259 (GRCm39)	D1066Y	probably damaging	Het
Sipa1l2	A	G	8: 126,206,887 (GRCm39)		probably benign	Het
Slc12a1	A	G	2: 125,036,113 (GRCm39)	T662A	probably benign	Het
Slc12a4	T	C	8: 106,672,669 (GRCm39)	I749V	probably benign	Het
Slc22a27	A	G	19: 7,887,092 (GRCm39)	S266P	probably damaging	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slit1	T	A	19: 41,619,215 (GRCm39)	N762I	probably damaging	Het
Spata31d1b	C	A	13: 59,865,835 (GRCm39)	D994E	possibly damaging	Het
Sphk1	A	G	11: 116,426,676 (GRCm39)	I204V	probably benign	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tgfbi	A	T	13: 56,762,127 (GRCm39)	Q70L	possibly damaging	Het
Tlr9	T	C	9: 106,101,846 (GRCm39)	L379P	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Tra2b	A	G	16: 22,073,795 (GRCm39)		probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trnau1ap	A	G	4: 132,049,114 (GRCm39)	Y30H	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ush2a	A	G	1: 188,683,758 (GRCm39)	D4979G	probably null	Het
Usp50	C	T	2: 126,619,943 (GRCm39)	R123Q	probably benign	Het
Vmn2r117	A	T	17: 23,696,454 (GRCm39)	Y318N	probably damaging	Het
Whamm	C	T	7: 81,228,047 (GRCm39)	T304I	probably null	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Ythdf3	A	G	3: 16,259,256 (GRCm39)	N468D	possibly damaging	Het
Zbtb17	T	C	4: 141,192,859 (GRCm39)	I486T	possibly damaging	Het
Zfp3	T	C	11: 70,662,202 (GRCm39)	S54P	probably benign	Het
Zscan10	A	T	17: 23,828,826 (GRCm39)	H379L	probably 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
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
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'- TCTGCTTACTTGGCACTGG -3'
(R):5'- GCTGTCTTAAAGAGCTGCCAC -3'

Sequencing Primer
(F):5'- CACTGGGGTGGCTCTTGAC -3'
(R):5'- TGGTCTACAAAGCCAGGTTC -3'

Posted On

2014-07-14