Incidental Mutation 'T0975:Azin2'
ID 262149
Institutional Source Beutler Lab
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 # T0975 (G3) of strain 714
Quality Score 201
Status Not validated
Chromosome 4
Chromosomal Location 128824026-128856235 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128839927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 222 (Y222H)
Ref Sequence ENSEMBL: ENSMUSP00000114086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030581] [ENSMUST00000106068] [ENSMUST00000119354] [ENSMUST00000147731]
AlphaFold Q8BVM4
Predicted Effect probably benign
Transcript: ENSMUST00000030581
AA Change: Y317H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789
AA Change: Y317H

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: Y317H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789
AA Change: Y317H

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: Y222H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789
AA Change: Y222H

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
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik TAA TAAA 11: 3,887,945 (GRCm39) probably null Het
4930556J24Rik C T 11: 3,926,324 (GRCm39) A27T unknown Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Bpifb5 C A 2: 154,071,384 (GRCm39) probably null Het
Castor1 G C 11: 4,170,445 (GRCm39) G147A probably benign Het
Ccdc157 C T 11: 4,096,246 (GRCm39) A455T probably damaging Het
Ccng1 A C 11: 40,644,871 (GRCm39) S9A probably benign Het
Cfh T C 1: 140,082,336 (GRCm39) T164A probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Chrng T C 1: 87,138,348 (GRCm39) S380P probably benign Het
Clspn ACGGCGGCGGCGGCG ACGGCGGCGGCGGCGGCGGCG 4: 126,460,230 (GRCm39) probably benign Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cxxc1 C T 18: 74,353,992 (GRCm39) R593C probably damaging Het
Dlgap1 T C 17: 70,823,950 (GRCm39) S312P possibly damaging Het
Dnah10 A G 5: 124,840,130 (GRCm39) S1255G probably benign Het
Dpep1 A T 8: 123,927,727 (GRCm39) S388C probably damaging Het
Emid1 T C 11: 5,094,386 (GRCm39) T42A probably damaging Het
Emid1 A C 11: 5,078,884 (GRCm39) L353V probably benign Het
Epn3 A G 11: 94,382,733 (GRCm39) probably null Het
Fam124b T C 1: 80,190,843 (GRCm39) E180G probably benign Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm9972 GA GAA 11: 42,927,597 (GRCm39) probably null Het
Hmmr G C 11: 40,614,243 (GRCm39) N148K probably damaging Het
Homez C T 14: 55,094,796 (GRCm39) R304K possibly damaging Het
Ifngr1 G A 10: 19,485,221 (GRCm39) V407M probably damaging Het
Inpp5j G T 11: 3,452,527 (GRCm39) T241N possibly damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kremen1 C T 11: 5,145,105 (GRCm39) A424T probably benign Het
Mat2b G A 11: 40,570,918 (GRCm39) T302I probably benign Het
Mtmr3 C T 11: 4,438,441 (GRCm39) R671K probably benign Het
Nacad A G 11: 6,551,632 (GRCm39) C520R probably benign Het
Nacad GCAGGGTCAGGGTC GCAGGGTCAGGGTCAGGGTC 11: 6,549,750 (GRCm39) probably benign Het
Nacad T C 11: 6,551,622 (GRCm39) N523S probably benign Het
Nefh G A 11: 4,890,151 (GRCm39) P823S probably benign Het
Nfrkb G C 9: 31,308,379 (GRCm39) A230P probably benign Het
Nlrp4a A G 7: 26,149,062 (GRCm39) E223G probably damaging Het
Notch3 T A 17: 32,365,391 (GRCm39) Y1107F probably damaging Het
Or10ak9 G T 4: 118,726,500 (GRCm39) R174M probably benign Het
Or13g1 A T 7: 85,955,492 (GRCm39) Y276* probably null Het
Or6c35 A G 10: 129,169,314 (GRCm39) D188G probably benign Het
Osm A G 11: 4,189,588 (GRCm39) D124G probably benign Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Sytl1 TCTGC TC 4: 132,984,305 (GRCm39) probably benign Het
Tcn2 G C 11: 3,873,487 (GRCm39) F286L possibly damaging Het
Tg T C 15: 66,560,712 (GRCm39) S10P probably benign Het
Tmprss7 C T 16: 45,501,096 (GRCm39) R235Q probably benign Het
Tns3 G A 11: 8,499,100 (GRCm39) probably benign Het
Tns3 G T 11: 8,401,146 (GRCm39) L1051M probably benign Het
Tns3 T G 11: 8,429,518 (GRCm39) E806A probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Txnrd2 A G 16: 18,294,315 (GRCm39) H436R probably damaging Het
Ubr4 C T 4: 139,179,092 (GRCm39) P2001S probably damaging Het
Vmn2r23 T A 6: 123,690,120 (GRCm39) M332K probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zfyve21 A G 12: 111,794,067 (GRCm39) D206G probably damaging Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Zpld2 GTG GTGCTG 4: 133,929,940 (GRCm39) 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
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
Z1176:Azin2 UTSW 4 128,828,452 (GRCm39) missense possibly damaging 0.54
Predicted Primers
Posted On 2015-02-04