Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Adcy3'

553732

Institutional Source

Beutler Lab

Gene Symbol

Adcy3

Ensembl Gene

ENSMUSG00000020654

Gene Name

adenylate cyclase 3

Synonyms

AC3, ACIII

MMRRC Submission

045223-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4183397-4263525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4250992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 584 (E584K)

Ref Sequence

ENSEMBL: ENSMUSP00000020984 (fasta)

Gene Model

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

AlphaFold

Q8VHH7

Predicted Effect

probably benign
Transcript: ENSMUST00000020984
AA Change: E584K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: E584K

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 benign
Transcript: ENSMUST00000124505
AA Change: E584K

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: E584K

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

probably benign
Transcript: ENSMUST00000127756
AA Change: E584K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: E584K

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: ENSMUST00000146261

Predicted Effect

probably benign
Transcript: ENSMUST00000152065
AA Change: E584K

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: E584K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,820 (GRCm39)	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,346,212 (GRCm39)	K886R	possibly damaging	Het
Ano3	A	T	2: 110,693,205 (GRCm39)	V131D	probably benign	Het
Arhgdig	C	T	17: 26,418,337 (GRCm39)	W215*	probably null	Het
Cad	G	T	5: 31,224,956 (GRCm39)	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,124,080 (GRCm39)	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,156,468 (GRCm39)	D1681E	probably benign	Het
Cenpl	T	A	1: 160,910,482 (GRCm39)	L143H	possibly damaging	Het
Cherp	T	C	8: 73,222,230 (GRCm39)	K270E		Het
Cmss1	A	G	16: 57,131,718 (GRCm39)	I136T	probably benign	Het
Col23a1	T	C	11: 51,456,050 (GRCm39)		probably null	Het
Crnn	C	A	3: 93,055,689 (GRCm39)	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,922,844 (GRCm39)	Q149L	probably benign	Het
Dst	T	A	1: 34,228,963 (GRCm39)	N2185K	probably benign	Het
Eif1ad18	G	T	12: 88,050,597 (GRCm39)	C44F	probably benign	Het
Elp2	T	A	18: 24,737,126 (GRCm39)	N25K	probably benign	Het
Ephb4	A	T	5: 137,370,308 (GRCm39)	D845V	probably damaging	Het
Esyt3	T	C	9: 99,201,627 (GRCm39)	T561A	probably damaging	Het
F3	G	T	3: 121,525,235 (GRCm39)	V159L	probably damaging	Het
Fam81a	A	T	9: 70,017,560 (GRCm39)	D128E	probably damaging	Het
Flot1	T	G	17: 36,135,835 (GRCm39)	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507 (GRCm39)	K102N	probably damaging	Het
Gm6309	T	C	5: 146,107,100 (GRCm39)	Q82R	possibly damaging	Het
H13	A	G	2: 152,522,992 (GRCm39)	N102D	probably damaging	Het
Lamc2	C	G	1: 153,006,518 (GRCm39)	A878P	possibly damaging	Het
Lepr	C	T	4: 101,609,394 (GRCm39)	T327I	probably benign	Het
Lrp2	A	G	2: 69,285,152 (GRCm39)		probably null	Het
Ly86	A	G	13: 37,560,986 (GRCm39)	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,343,201 (GRCm39)	F648I	possibly damaging	Het
Muc16	G	A	9: 18,566,876 (GRCm39)	T1881I	unknown	Het
Myh13	T	G	11: 67,245,566 (GRCm39)	S1069A	probably benign	Het
Myh4	T	A	11: 67,151,054 (GRCm39)	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,965,545 (GRCm39)	L1341*	probably null	Het
Naa25	G	T	5: 121,555,552 (GRCm39)		probably null	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Ncapg	C	T	5: 45,827,372 (GRCm39)	A3V	possibly damaging	Het
Ncln	T	C	10: 81,324,086 (GRCm39)	H481R	probably benign	Het
Nek4	C	A	14: 30,704,305 (GRCm39)	Q607K	probably damaging	Het
Neo1	T	C	9: 58,796,462 (GRCm39)	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,615,692 (GRCm39)	N165S	probably benign	Het
Or2l5	C	G	16: 19,333,649 (GRCm39)	V246L	probably damaging	Het
Or4p22	C	T	2: 88,317,721 (GRCm39)	S215L	probably damaging	Het
Or8b8	A	G	9: 37,808,859 (GRCm39)	H53R	probably benign	Het
Or8k30	T	C	2: 86,338,872 (GRCm39)	L23P	probably damaging	Het
Otulin	T	C	15: 27,608,856 (GRCm39)	Y229C	probably damaging	Het
Palld	A	T	8: 61,985,051 (GRCm39)	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,638,142 (GRCm39)	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,840,781 (GRCm39)	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,854,843 (GRCm39)	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,896,050 (GRCm39)	Y373*	probably null	Het
Plxna2	G	T	1: 194,331,830 (GRCm39)	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,959,434 (GRCm39)		probably null	Het
Rsrc2	A	G	5: 123,877,630 (GRCm39)		probably benign	Het
Scaper	C	T	9: 55,819,395 (GRCm39)	D107N	unknown	Het
Scgb2b3	T	A	7: 31,059,573 (GRCm39)	Y67F	probably benign	Het
Scn5a	G	A	9: 119,315,437 (GRCm39)	T1757I	probably damaging	Het
Sgo2b	G	A	8: 64,381,218 (GRCm39)	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,298,797 (GRCm39)	K72R	probably damaging	Het
Smchd1	T	A	17: 71,685,202 (GRCm39)	T1409S	probably benign	Het
Stab1	A	T	14: 30,867,030 (GRCm39)		probably null	Het
Sult2b1	T	C	7: 45,383,056 (GRCm39)	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,663,687 (GRCm39)	H64Q	probably damaging	Het
Tle6	T	C	10: 81,435,910 (GRCm39)	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,412,285 (GRCm39)	V203A	probably benign	Het
Tmem45b	G	A	9: 31,340,337 (GRCm39)	T108I	probably damaging	Het
Tmf1	A	T	6: 97,153,079 (GRCm39)	D331E	probably damaging	Het
Txndc9	T	C	1: 38,029,377 (GRCm39)	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,168,711 (GRCm39)	R806S	probably benign	Het
Vmn2r59	G	A	7: 41,695,188 (GRCm39)	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,964,467 (GRCm39)	V92A	probably benign	Het

Other mutations in Adcy3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Adcy3	APN	12	4,244,357 (GRCm39)	missense	probably damaging	1.00
IGL00985:Adcy3	APN	12	4,184,600 (GRCm39)	missense	probably damaging	0.98
IGL01735:Adcy3	APN	12	4,251,213 (GRCm39)	missense	probably benign	0.00
IGL02097:Adcy3	APN	12	4,262,118 (GRCm39)	missense	probably damaging	1.00
IGL02102:Adcy3	APN	12	4,184,699 (GRCm39)	missense	probably damaging	1.00
IGL02103:Adcy3	APN	12	4,184,390 (GRCm39)	missense	possibly damaging	0.69
IGL02155:Adcy3	APN	12	4,262,142 (GRCm39)	nonsense	probably null
IGL02376:Adcy3	APN	12	4,251,031 (GRCm39)	missense	possibly damaging	0.77
IGL02411:Adcy3	APN	12	4,259,407 (GRCm39)	splice site	probably null
IGL02465:Adcy3	APN	12	4,250,906 (GRCm39)	missense	probably benign	0.10
IGL02819:Adcy3	APN	12	4,256,986 (GRCm39)	splice site	probably benign
magnificent_frigatebird	UTSW	12	4,244,324 (GRCm39)	missense	probably damaging	1.00
R0015:Adcy3	UTSW	12	4,245,260 (GRCm39)	critical splice donor site	probably null
R0015:Adcy3	UTSW	12	4,245,260 (GRCm39)	critical splice donor site	probably null
R0918:Adcy3	UTSW	12	4,248,360 (GRCm39)	missense	probably benign	0.05
R1480:Adcy3	UTSW	12	4,262,171 (GRCm39)	missense	probably damaging	1.00
R1736:Adcy3	UTSW	12	4,250,998 (GRCm39)	missense	possibly damaging	0.87
R1885:Adcy3	UTSW	12	4,184,951 (GRCm39)	missense	probably damaging	1.00
R1897:Adcy3	UTSW	12	4,223,450 (GRCm39)	splice site	probably benign
R1951:Adcy3	UTSW	12	4,258,624 (GRCm39)	missense	probably benign	0.29
R2083:Adcy3	UTSW	12	4,223,512 (GRCm39)	missense	probably damaging	1.00
R2417:Adcy3	UTSW	12	4,258,627 (GRCm39)	missense	probably benign	0.05
R4379:Adcy3	UTSW	12	4,184,558 (GRCm39)	missense	probably damaging	1.00
R4785:Adcy3	UTSW	12	4,256,542 (GRCm39)	missense	probably benign	0.00
R4960:Adcy3	UTSW	12	4,184,896 (GRCm39)	missense	probably benign	0.11
R5001:Adcy3	UTSW	12	4,248,434 (GRCm39)	missense	possibly damaging	0.56
R5166:Adcy3	UTSW	12	4,184,438 (GRCm39)	missense	probably damaging	1.00
R5375:Adcy3	UTSW	12	4,260,870 (GRCm39)	missense	probably damaging	1.00
R5416:Adcy3	UTSW	12	4,259,308 (GRCm39)	missense	probably damaging	1.00
R5998:Adcy3	UTSW	12	4,248,348 (GRCm39)	missense	probably damaging	1.00
R6248:Adcy3	UTSW	12	4,258,662 (GRCm39)	critical splice donor site	probably null
R6490:Adcy3	UTSW	12	4,262,150 (GRCm39)	missense	probably damaging	1.00
R6566:Adcy3	UTSW	12	4,244,324 (GRCm39)	missense	probably damaging	1.00
R7283:Adcy3	UTSW	12	4,253,563 (GRCm39)	missense	not run
R7559:Adcy3	UTSW	12	4,248,440 (GRCm39)	missense	probably benign	0.06
R7691:Adcy3	UTSW	12	4,256,540 (GRCm39)	missense	probably benign	0.17
R7799:Adcy3	UTSW	12	4,254,762 (GRCm39)	missense	probably damaging	1.00
R8074:Adcy3	UTSW	12	4,184,420 (GRCm39)	missense	probably benign	0.00
R8283:Adcy3	UTSW	12	4,250,935 (GRCm39)	missense	probably damaging	1.00
R8298:Adcy3	UTSW	12	4,256,482 (GRCm39)	missense	probably damaging	1.00
R8515:Adcy3	UTSW	12	4,262,187 (GRCm39)	missense	probably damaging	1.00
R9145:Adcy3	UTSW	12	4,245,208 (GRCm39)	missense	probably damaging	0.99
R9361:Adcy3	UTSW	12	4,259,366 (GRCm39)	missense	possibly damaging	0.80
R9464:Adcy3	UTSW	12	4,256,939 (GRCm39)	missense	probably benign
R9643:Adcy3	UTSW	12	4,259,455 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAAGGGTTTGGTCCTCAGG -3'
(R):5'- CTCATGGTCAGGAGGAATGTG -3'

Sequencing Primer
(F):5'- TCCTCAGGAGTGTGACCTC -3'
(R):5'- GGGAAACAAGCCCTGTGACC -3'

Posted On

2019-05-15