Incidental Mutation 'R9059:Azin2'
ID 688860
Institutional Source Beutler Lab
Gene Symbol Azin2
Ensembl Gene ENSMUSG00000028789
Gene Name antizyme inhibitor 2
Synonyms Adc, Odcp, 4933429I20Rik, AZIN2
MMRRC Submission 068885-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # R9059 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 128824026-128856235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128828440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 351 (Y351H)
Ref Sequence ENSEMBL: ENSMUSP00000030581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030581] [ENSMUST00000106068] [ENSMUST00000119354]
AlphaFold Q8BVM4
Predicted Effect probably benign
Transcript: ENSMUST00000030581
AA Change: Y351H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789
AA Change: Y351H

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 benign
Transcript: ENSMUST00000106068
AA Change: Y351H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789
AA Change: Y351H

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 benign
Transcript: ENSMUST00000119354
AA Change: Y256H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789
AA Change: Y256H

DomainStartEndE-ValueType
Pfam:Orn_Arg_deC_N 1 188 4.2e-54 PFAM
Pfam:Orn_DAP_Arg_deC 191 312 4.3e-23 PFAM
Meta Mutation Damage Score 0.1345 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,124,732 (GRCm39) D48E probably benign Het
Ablim2 A G 5: 35,959,850 (GRCm39) T101A probably damaging Het
Acot8 A G 2: 164,634,829 (GRCm39) S316P probably benign Het
Acta2 G T 19: 34,219,155 (GRCm39) A349D possibly damaging Het
Adgrv1 C A 13: 81,562,692 (GRCm39) probably null Het
Ankrd55 A G 13: 112,455,073 (GRCm39) D57G probably damaging Het
Ccdc142 T C 6: 83,079,400 (GRCm39) C246R probably damaging Het
Col25a1 C A 3: 130,268,499 (GRCm39) Q179K unknown Het
Ddx46 C T 13: 55,799,921 (GRCm39) A277V probably benign Het
Diaph1 T A 18: 38,022,798 (GRCm39) N792I possibly damaging Het
Dnah11 G A 12: 118,094,578 (GRCm39) P830L probably benign Het
Dnah3 C G 7: 119,684,368 (GRCm39) R252S probably benign Het
Dnah5 A G 15: 28,245,812 (GRCm39) D550G probably benign Het
Dph3 T C 14: 31,807,384 (GRCm39) N31D probably benign Het
Dsg1c A T 18: 20,408,306 (GRCm39) T452S probably damaging Het
Dsg4 T A 18: 20,604,182 (GRCm39) M883K possibly damaging Het
Efcab3 T C 11: 104,642,689 (GRCm39) V1104A possibly damaging Het
Epn1 T G 7: 5,098,067 (GRCm39) S293A probably benign Het
Fggy T A 4: 95,688,841 (GRCm39) Y318* probably null Het
Hip1 A G 5: 135,457,597 (GRCm39) L703P probably benign Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Igf2r GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC GCAGCCCTCCATAGGCGC 17: 12,970,180 (GRCm39) probably null Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Larp4 A G 15: 99,889,693 (GRCm39) E204G probably benign Het
Lbr A G 1: 181,645,119 (GRCm39) I511T Het
Lingo3 G T 10: 80,670,523 (GRCm39) T469K probably benign Het
Lrrc30 A T 17: 67,938,798 (GRCm39) W261R probably damaging Het
Man2b1 T C 8: 85,818,155 (GRCm39) V442A probably damaging Het
Mroh3 T A 1: 136,109,533 (GRCm39) R891S probably benign Het
Mtcl1 T A 17: 66,650,606 (GRCm39) M1620L probably benign Het
Myo18a T C 11: 77,668,899 (GRCm39) V253A possibly damaging Het
Or5b101 A T 19: 13,005,277 (GRCm39) C139S probably damaging Het
Pcdhb22 A T 18: 37,652,722 (GRCm39) N140Y probably damaging Het
Ppp1r9b T C 11: 94,883,254 (GRCm39) V294A probably benign Het
Ptk7 A T 17: 46,877,117 (GRCm39) D980E probably damaging Het
Rdh11 T A 12: 79,238,713 (GRCm39) probably benign Het
Sec23ip T G 7: 128,365,805 (GRCm39) L558R probably damaging Het
Slc22a26 C T 19: 7,762,559 (GRCm39) M460I probably benign Het
Smc1b G A 15: 85,004,875 (GRCm39) Q400* probably null Het
Spg11 T C 2: 121,918,788 (GRCm39) E947G probably damaging Het
Stab1 T C 14: 30,876,805 (GRCm39) I840V probably benign Het
Tlk1 T C 2: 70,617,277 (GRCm39) T68A possibly damaging Het
Traip A G 9: 107,840,549 (GRCm39) I273V probably benign Het
Trim30c T G 7: 104,031,272 (GRCm39) *514C probably null Het
U2surp A G 9: 95,363,716 (GRCm39) Y615H probably damaging 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
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
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'- TGGCATAAGTGACTCTGCGG -3'
(R):5'- CTTTCAGTGTTTCAGTGGCC -3'

Sequencing Primer
(F):5'- ATAAGTGACTCTGCGGGCCTG -3'
(R):5'- CCATTTTACAGACAGGCAATCTGAGG -3'
Posted On 2021-11-19