Incidental Mutation 'IGL03349:Azin2'
ID 419622
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03349
Quality Score
Status
Chromosome 4
Chromosomal Location 128824026-128856235 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 128839907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 228 (Y228*)
Ref Sequence ENSEMBL: ENSMUSP00000114086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030581] [ENSMUST00000106068] [ENSMUST00000119354] [ENSMUST00000147731]
AlphaFold Q8BVM4
Predicted Effect probably null
Transcript: ENSMUST00000030581
AA Change: Y323*
SMART Domains Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789
AA Change: Y323*

DomainStartEndE-ValueType
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
AA Change: Y323*
SMART Domains Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789
AA Change: Y323*

DomainStartEndE-ValueType
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
AA Change: Y228*
SMART Domains Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789
AA Change: Y228*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 2 202 4e-56 PFAM
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,629,455 (GRCm39) Y3648H probably benign Het
Akr1c20 T A 13: 4,558,249 (GRCm39) R172* probably null Het
Apba1 A T 19: 23,894,939 (GRCm39) E458D probably benign Het
Atg2a T A 19: 6,308,054 (GRCm39) V1590D possibly damaging Het
Atp13a4 A G 16: 29,275,489 (GRCm39) S332P probably benign Het
Atp8b2 A T 3: 89,865,124 (GRCm39) F163I probably damaging Het
Cd109 C T 9: 78,543,767 (GRCm39) H104Y probably benign Het
Ces2a G T 8: 105,460,712 (GRCm39) L3F probably damaging Het
Crebbp A G 16: 3,935,222 (GRCm39) V889A possibly damaging Het
Crim1 A T 17: 78,662,579 (GRCm39) K801* probably null Het
Cxcr1 T C 1: 74,231,687 (GRCm39) T112A possibly damaging Het
Cyp1a2 A G 9: 57,587,158 (GRCm39) S378P possibly damaging Het
Cyp2c67 T C 19: 39,632,128 (GRCm39) Y80C probably damaging Het
Dennd4a T C 9: 64,796,256 (GRCm39) W761R probably damaging Het
Dgki C T 6: 37,074,562 (GRCm39) probably null Het
Dnase1l3 T C 14: 7,984,146 (GRCm38) T89A probably benign Het
Dock4 C A 12: 40,783,309 (GRCm39) Q748K probably benign Het
Elmo3 A G 8: 106,033,020 (GRCm39) E68G possibly damaging Het
Fer1l4 C A 2: 155,886,654 (GRCm39) E692* probably null Het
Fkbp9 T A 6: 56,826,703 (GRCm39) M101K probably damaging Het
Grin1 C A 2: 25,200,448 (GRCm39) V225L probably benign Het
Gucy2d T C 7: 98,099,048 (GRCm39) V288A possibly damaging Het
Heatr5b C A 17: 79,062,749 (GRCm39) K1933N probably benign Het
Hsdl1 A T 8: 120,292,436 (GRCm39) S260T probably benign Het
Hspg2 T C 4: 137,287,833 (GRCm39) probably benign Het
Ift172 A T 5: 31,441,474 (GRCm39) V220E probably benign Het
Igkv12-47 C T 6: 69,727,850 (GRCm39) noncoding transcript Het
Ism1 C T 2: 139,573,895 (GRCm39) R82* probably null Het
Lrch3 A G 16: 32,775,694 (GRCm39) T187A probably damaging Het
Ltbr T A 6: 125,289,329 (GRCm39) D160V probably damaging Het
Lypd11 T A 7: 24,422,261 (GRCm39) S163C probably damaging Het
Mark3 A T 12: 111,594,684 (GRCm39) K353I probably benign Het
Mrm3 A T 11: 76,140,772 (GRCm39) H260L probably damaging Het
Nckap1 T C 2: 80,355,904 (GRCm39) Q627R probably benign Het
Neb T A 2: 52,168,964 (GRCm39) Y1857F possibly damaging Het
Ntsr1 A G 2: 180,142,295 (GRCm39) T29A probably benign Het
Ofcc1 C T 13: 40,226,228 (GRCm39) G768D probably benign Het
Or5k17 T C 16: 58,746,323 (GRCm39) M204V probably benign Het
Pde8b T C 13: 95,179,551 (GRCm39) probably benign Het
Pld4 A T 12: 112,734,313 (GRCm39) Q393L probably benign Het
Prss23 T C 7: 89,159,065 (GRCm39) I335V probably benign Het
Prune2 A G 19: 17,100,710 (GRCm39) I2071M probably damaging Het
Ptprz1 T A 6: 23,000,331 (GRCm39) V807E probably damaging Het
Rnf20 G A 4: 49,655,936 (GRCm39) A961T probably damaging Het
Slc25a24 A G 3: 109,056,865 (GRCm39) Q126R possibly damaging Het
Slc35e1 A T 8: 73,237,696 (GRCm39) Y382N probably damaging Het
Snrpn C T 7: 59,635,613 (GRCm39) G129D probably damaging Het
Spag9 A T 11: 93,984,335 (GRCm39) N386I possibly damaging Het
Ssna1 T C 2: 25,161,542 (GRCm39) N102D possibly damaging Het
Tex21 A T 12: 76,268,365 (GRCm39) I139N probably benign Het
Trgc2 T A 13: 19,489,346 (GRCm39) T129S probably benign Het
Trim21 T C 7: 102,212,484 (GRCm39) T161A probably benign Het
Vmn2r82 T A 10: 79,213,703 (GRCm39) H96Q probably benign Het
Other mutations in Azin2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02