Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Adcy3'

279616

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy3

Ensembl Gene

ENSMUSG00000020654

Gene Name

adenylate cyclase 3

Synonyms

AC3

Accession Numbers

Ncbi RefSeq: NM_138305.3, NM_001159536.1, NM_001159537.1; MGI:99675

Essential gene?

Probably essential (E-score: 0.844) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

4133103-4213525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4212118 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1056 (A1056V)

Ref Sequence

ENSEMBL: ENSMUSP00000115644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [ENSMUST00000128466] [ENSMUST00000140975] [ENSMUST00000152065]

AlphaFold

Q8VHH7

Predicted Effect

probably benign
Transcript: ENSMUST00000020981

SMART Domains

Protein: ENSMUSP00000020981
Gene: ENSMUSG00000020652

Domain	Start	End	E-Value	Type
Pfam:CENP-O	1	74	2.1e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020984
AA Change: A1057V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: A1057V

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	105	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	170	187	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	226	245	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	841	858	N/A	INTRINSIC
CYCc	884	1103	2.02e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111169

SMART Domains

Protein: ENSMUSP00000106799
Gene: ENSMUSG00000020652

Domain	Start	End	E-Value	Type
coiled coil region	39	74	N/A	INTRINSIC
Pfam:CENP-O	118	195	2.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124505
AA Change: A1056V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: A1056V

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	105	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	170	187	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	226	245	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	840	857	N/A	INTRINSIC
CYCc	883	1102	2.02e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126017

Predicted Effect

probably damaging
Transcript: ENSMUST00000127756
AA Change: A1057V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: A1057V

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	78	88	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	841	858	N/A	INTRINSIC
CYCc	884	1103	2.02e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128466

SMART Domains

Protein: ENSMUSP00000121258
Gene: ENSMUSG00000020652

Domain	Start	End	E-Value	Type
coiled coil region	40	75	N/A	INTRINSIC
Pfam:CENP-O	119	196	7.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140975

SMART Domains

Protein: ENSMUSP00000119136
Gene: ENSMUSG00000020652

Domain	Start	End	E-Value	Type
coiled coil region	39	74	N/A	INTRINSIC
Pfam:CENP-O	117	231	9.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146261

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146523

Predicted Effect

probably damaging
Transcript: ENSMUST00000152065
AA Change: A1056V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: A1056V

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	105	125	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
transmembrane domain	170	187	N/A	INTRINSIC
transmembrane domain	189	211	N/A	INTRINSIC
transmembrane domain	226	245	N/A	INTRINSIC
CYCc	270	472	2.17e-61	SMART
low complexity region	516	526	N/A	INTRINSIC
low complexity region	535	554	N/A	INTRINSIC
coiled coil region	567	600	N/A	INTRINSIC
transmembrane domain	631	650	N/A	INTRINSIC
transmembrane domain	660	682	N/A	INTRINSIC
transmembrane domain	710	732	N/A	INTRINSIC
transmembrane domain	752	771	N/A	INTRINSIC
transmembrane domain	776	798	N/A	INTRINSIC
transmembrane domain	840	857	N/A	INTRINSIC
CYCc	883	1102	2.02e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152792

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 2661086; 3604495
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for one mutation of this gene display impaired olfaction and disorganization of glomeruli in the main olfactory bulb. Mutant animals also appear to be sterile as homozygous matings failed to produce litters. Mice with another mutant allele fail to survive beyond weaning. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted(4) Gene trapped(5)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,660,619	P120S	possibly damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Adcy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Adcy3	APN	12	4194357	missense	probably damaging	1.00
IGL00985:Adcy3	APN	12	4134600	missense	probably damaging	0.98
IGL01735:Adcy3	APN	12	4201213	missense	probably benign	0.00
IGL02102:Adcy3	APN	12	4134699	missense	probably damaging	1.00
IGL02103:Adcy3	APN	12	4134390	missense	possibly damaging	0.69
IGL02155:Adcy3	APN	12	4212142	nonsense	probably null
IGL02376:Adcy3	APN	12	4201031	missense	possibly damaging	0.77
IGL02411:Adcy3	APN	12	4209407	splice site	probably null
IGL02465:Adcy3	APN	12	4200906	missense	probably benign	0.10
IGL02819:Adcy3	APN	12	4206986	splice site	probably benign
magnificent_frigatebird	UTSW	12	4194324	missense	probably damaging	1.00
R0015:Adcy3	UTSW	12	4195260	critical splice donor site	probably null
R0015:Adcy3	UTSW	12	4195260	critical splice donor site	probably null
R0918:Adcy3	UTSW	12	4198360	missense	probably benign	0.05
R1480:Adcy3	UTSW	12	4212171	missense	probably damaging	1.00
R1736:Adcy3	UTSW	12	4200998	missense	possibly damaging	0.87
R1885:Adcy3	UTSW	12	4134951	missense	probably damaging	1.00
R1897:Adcy3	UTSW	12	4173450	splice site	probably benign
R1951:Adcy3	UTSW	12	4208624	missense	probably benign	0.29
R2083:Adcy3	UTSW	12	4173512	missense	probably damaging	1.00
R2417:Adcy3	UTSW	12	4208627	missense	probably benign	0.05
R4379:Adcy3	UTSW	12	4134558	missense	probably damaging	1.00
R4785:Adcy3	UTSW	12	4206542	missense	probably benign	0.00
R4960:Adcy3	UTSW	12	4134896	missense	probably benign	0.11
R5001:Adcy3	UTSW	12	4198434	missense	possibly damaging	0.56
R5166:Adcy3	UTSW	12	4134438	missense	probably damaging	1.00
R5375:Adcy3	UTSW	12	4210870	missense	probably damaging	1.00
R5416:Adcy3	UTSW	12	4209308	missense	probably damaging	1.00
R5998:Adcy3	UTSW	12	4198348	missense	probably damaging	1.00
R6248:Adcy3	UTSW	12	4208662	critical splice donor site	probably null
R6490:Adcy3	UTSW	12	4212150	missense	probably damaging	1.00
R6566:Adcy3	UTSW	12	4194324	missense	probably damaging	1.00
R7145:Adcy3	UTSW	12	4200992	missense	probably benign	0.20
R7283:Adcy3	UTSW	12	4203563	missense	not run
R7559:Adcy3	UTSW	12	4198440	missense	probably benign	0.06
R7691:Adcy3	UTSW	12	4206540	missense	probably benign	0.17
R7799:Adcy3	UTSW	12	4204762	missense	probably damaging	1.00
R8074:Adcy3	UTSW	12	4134420	missense	probably benign	0.00
R8283:Adcy3	UTSW	12	4200935	missense	probably damaging	1.00
R8298:Adcy3	UTSW	12	4206482	missense	probably damaging	1.00
R8515:Adcy3	UTSW	12	4212187	missense	probably damaging	1.00
R9145:Adcy3	UTSW	12	4195208	missense	probably damaging	0.99
R9361:Adcy3	UTSW	12	4209366	missense	possibly damaging	0.80
R9464:Adcy3	UTSW	12	4206939	missense	probably benign
R9643:Adcy3	UTSW	12	4209455	missense	probably damaging	1.00

Posted On

2015-04-16