Incidental Mutation 'IGL00932:Azin2'
ID 27258
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 # IGL00932
Quality Score
Status
Chromosome 4
Chromosomal Location 128824026-128856235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128844459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 48 (V48E)
Ref Sequence ENSEMBL: ENSMUSP00000122240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030581] [ENSMUST00000106068] [ENSMUST00000119354] [ENSMUST00000147731]
AlphaFold Q8BVM4
Predicted Effect possibly damaging
Transcript: ENSMUST00000030581
AA Change: V129E

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789
AA Change: V129E

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 possibly damaging
Transcript: ENSMUST00000106068
AA Change: V129E

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789
AA Change: V129E

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 damaging
Transcript: ENSMUST00000119354
AA Change: V34E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789
AA Change: V34E

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 damaging
Transcript: ENSMUST00000147731
AA Change: V48E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122240
Gene: ENSMUSG00000028789
AA Change: V48E

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A T 9: 122,080,297 (GRCm39) C571* probably null Het
Atp7b T C 8: 22,501,114 (GRCm39) I930V possibly damaging Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Clec4a1 G A 6: 122,907,654 (GRCm39) C114Y probably damaging Het
Cybc1 A G 11: 121,119,156 (GRCm39) V28A probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Huwe1 T C X: 150,643,157 (GRCm39) probably benign Het
Lamb1 T A 12: 31,348,825 (GRCm39) V571E possibly damaging Het
Lats1 T C 10: 7,588,506 (GRCm39) V1041A possibly damaging Het
Mthfd1l A T 10: 3,989,971 (GRCm38) probably benign Het
Or7g18 T A 9: 18,787,310 (GRCm39) L226* probably null Het
Ptbp3 A G 4: 59,477,228 (GRCm39) S487P probably benign Het
Rpgrip1l A G 8: 92,002,265 (GRCm39) F448S probably benign Het
Rpl7a T C 2: 26,801,067 (GRCm39) probably benign Het
Sis T C 3: 72,848,289 (GRCm39) probably benign Het
Sptan1 G T 2: 29,905,622 (GRCm39) A1579S probably damaging Het
Tcl1b5 A T 12: 105,142,759 (GRCm39) H29L probably benign Het
Ttll5 A T 12: 85,976,681 (GRCm39) N811Y probably damaging Het
Vmn2r111 T A 17: 22,767,734 (GRCm39) M588L probably benign Het
Other mutations in Azin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-04-17