Mutagenetix > Incidental Mutation

Incidental Mutation 'R2939:Azin2'

264557

Institutional Source

Beutler Lab

Gene Symbol

Azin2

Ensembl Gene

ENSMUSG00000028789

Gene Name

antizyme inhibitor 2

Synonyms

Adc, Odcp, 4933429I20Rik, AZIN2

MMRRC Submission

040516-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R2939 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

128824026-128856235 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128828397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 270 (C270Y)

Ref Sequence

ENSEMBL: ENSMUSP00000114086 (fasta)

Gene Model

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

AlphaFold

Q8BVM4

Predicted Effect

probably benign
Transcript: ENSMUST00000030581
AA Change: C365Y

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000030581
Gene: ENSMUSG00000028789
AA Change: C365Y

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 benign
Transcript: ENSMUST00000106068
AA Change: C365Y

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101683
Gene: ENSMUSG00000028789
AA Change: C365Y

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 benign
Transcript: ENSMUST00000119354
AA Change: C270Y

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114086
Gene: ENSMUSG00000028789
AA Change: C270Y

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: ENSMUST00000154515

Meta Mutation Damage Score

0.1335

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (62/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,409 (GRCm39)	Y911H	possibly damaging	Het
Arhgef26	A	C	3: 62,288,331 (GRCm39)	K467T	possibly damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Atm	T	C	9: 53,406,011 (GRCm39)	Y1219C	probably damaging	Het
Brsk1	A	T	7: 4,711,139 (GRCm39)	I545F	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cfap410	A	G	10: 77,817,507 (GRCm39)	N78S	probably benign	Het
Cfap69	G	A	5: 5,694,432 (GRCm39)	A143V	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Col5a3	T	C	9: 20,706,954 (GRCm39)	K714R	unknown	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dagla	A	C	19: 10,233,728 (GRCm39)	F382C	probably damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif5	T	C	12: 111,506,713 (GRCm39)	C102R	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fhdc1	A	G	3: 84,364,577 (GRCm39)	V223A	possibly damaging	Het
Garin4	T	C	1: 190,896,103 (GRCm39)	D180G	possibly damaging	Het
Gpatch8	A	G	11: 102,399,010 (GRCm39)	V74A	unknown	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Ksr1	A	G	11: 78,936,007 (GRCm39)		probably null	Het
Lama5	A	C	2: 179,840,747 (GRCm39)	Y584D	probably damaging	Het
Lgi4	C	T	7: 30,767,253 (GRCm39)	R427*	probably null	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nherf1	C	T	11: 115,071,270 (GRCm39)	R335C	probably damaging	Het
Nmnat2	C	A	1: 152,950,474 (GRCm39)	S53Y	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcsk7	C	T	9: 45,827,322 (GRCm39)	A363V	probably damaging	Het
Pdrg1	C	T	2: 152,854,355 (GRCm39)	G62R	probably damaging	Het
Pdzd7	A	G	19: 45,033,862 (GRCm39)	I74T	possibly damaging	Het
Plcb4	T	C	2: 135,781,123 (GRCm39)		probably benign	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Rph3a	A	G	5: 121,118,212 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc1a6	G	T	10: 78,650,448 (GRCm39)	*562L	probably null	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Slc45a3	A	G	1: 131,905,637 (GRCm39)	E206G	probably damaging	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Smpd3	A	G	8: 106,984,039 (GRCm39)	V560A	probably benign	Het
Spata31g1	A	G	4: 42,972,946 (GRCm39)	K760E	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Suco	A	G	1: 161,676,220 (GRCm39)	I386T	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmprss11e	G	A	5: 86,869,266 (GRCm39)	R96W	probably damaging	Het
Trim63	T	C	4: 134,050,308 (GRCm39)		probably benign	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Unc79	C	T	12: 102,957,684 (GRCm39)	T33I	probably damaging	Het
Usp47	G	A	7: 111,681,743 (GRCm39)	S518N	probably damaging	Het
Vmn2r22	T	A	6: 123,614,594 (GRCm39)	D332V	probably damaging	Het
Vmn2r55	A	G	7: 12,385,832 (GRCm39)	L716P	probably damaging	Het
Zfp558	T	C	9: 18,367,924 (GRCm39)	N288S	possibly 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
R1940:Azin2	UTSW	4	128,844,577 (GRCm39)	splice site	probably null
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'- CCTCACTGCAGGAACCTCTTAC -3'
(R):5'- CTTTCAGTGTTTCAGTGGCC -3'

Sequencing Primer
(F):5'- GCAGGAACCTCTTACCAGGCTAG -3'
(R):5'- CCATTTTACAGACAGGCAATCTGAGG -3'

Posted On

2015-02-05