Mutagenetix > Incidental Mutation

Incidental Mutation 'R9643:Adcy3'

726676

Institutional Source

Beutler Lab

Gene Symbol

Adcy3

Ensembl Gene

ENSMUSG00000020654

Gene Name

adenylate cyclase 3

Synonyms

AC3, ACIII

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

R9643 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4183397-4263525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4259455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 911 (R911G)

Ref Sequence

ENSEMBL: ENSMUSP00000020984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020981] [ENSMUST00000020984] [ENSMUST00000111169] [ENSMUST00000124505] [ENSMUST00000127756] [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: R911G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: R911G

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: R910G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: R910G

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 damaging
Transcript: ENSMUST00000127756
AA Change: R911G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: R911G

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: 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

probably damaging
Transcript: ENSMUST00000152065
AA Change: R910G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: R910G

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: 99.1%

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
2700049A03Rik	A	G	12: 71,211,189 (GRCm39)	D641G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,092,666 (GRCm39)	E272G	unknown	Het
Abca16	C	T	7: 120,065,023 (GRCm39)	T560I	possibly damaging	Het
Adgra2	A	G	8: 27,612,031 (GRCm39)	T1327A	possibly damaging	Het
Aldh9a1	T	C	1: 167,184,904 (GRCm39)	V272A	possibly damaging	Het
Ankfn1	T	A	11: 89,396,167 (GRCm39)	H193L	probably benign	Het
Asb1	A	G	1: 91,480,116 (GRCm39)	R280G	probably benign	Het
Atg14	G	T	14: 47,788,780 (GRCm39)	A191E	probably damaging	Het
Bcl9	G	T	3: 97,112,960 (GRCm39)	P1165Q	possibly damaging	Het
Cdk8	G	A	5: 146,235,664 (GRCm39)	A264T	probably damaging	Het
Cep152	G	A	2: 125,406,150 (GRCm39)	Q1461*	probably null	Het
Cep170b	G	T	12: 112,704,045 (GRCm39)	W659L	probably damaging	Het
Cep57l1	T	C	10: 41,597,626 (GRCm39)	E335G	probably damaging	Het
Cpt1b	T	A	15: 89,303,229 (GRCm39)	T609S	possibly damaging	Het
Cyp2c50	A	T	19: 40,086,512 (GRCm39)	I359F	probably damaging	Het
Dpf1	T	A	7: 29,013,742 (GRCm39)	N272K	probably damaging	Het
Fsip2	A	G	2: 82,821,984 (GRCm39)	T5906A	possibly damaging	Het
Gin1	A	T	1: 97,712,498 (GRCm39)	R220S	probably benign	Het
Gm30083	T	C	14: 33,736,861 (GRCm39)	Y32C	probably benign	Het
Gm45861	A	G	8: 27,994,083 (GRCm39)	E445G	unknown	Het
Golga2	T	C	2: 32,193,874 (GRCm39)	S567P	probably damaging	Het
Gpr89	A	G	3: 96,780,813 (GRCm39)	V353A	probably damaging	Het
Grin2d	T	C	7: 45,506,948 (GRCm39)	K509R	possibly damaging	Het
Hip1r	T	C	5: 124,139,319 (GRCm39)	I904T	probably damaging	Het
Ikbke	T	A	1: 131,187,022 (GRCm39)		probably null	Het
Il1r1	T	A	1: 40,341,532 (GRCm39)	C315S	probably damaging	Het
Ireb2	T	A	9: 54,789,730 (GRCm39)	F135I	possibly damaging	Het
Jakmip3	C	T	7: 138,621,915 (GRCm39)	L272F	probably damaging	Het
Kntc1	T	A	5: 123,949,440 (GRCm39)	F1937Y	probably damaging	Het
Krtap4-16	G	A	11: 99,742,271 (GRCm39)	T43I	unknown	Het
Lats2	A	G	14: 57,936,875 (GRCm39)	V538A	possibly damaging	Het
Megf8	T	A	7: 25,046,907 (GRCm39)	W1597R	probably damaging	Het
Mideas	A	T	12: 84,219,885 (GRCm39)	D356E	probably benign	Het
Mtus2	A	T	5: 148,014,025 (GRCm39)	T273S	probably benign	Het
Nsun6	T	A	2: 15,047,106 (GRCm39)	E81D	probably benign	Het
Or13c7	G	A	4: 43,855,183 (GRCm39)	M291I	probably benign	Het
Or4c125	A	T	2: 89,170,517 (GRCm39)	I43K	probably damaging	Het
Or56a41	A	G	7: 104,740,445 (GRCm39)	F134L	probably benign	Het
Or8c10	A	G	9: 38,278,912 (GRCm39)	I13M	probably damaging	Het
Or8k23	A	G	2: 86,186,408 (GRCm39)	F106S	probably benign	Het
Oxsm	T	C	14: 16,241,000 (GRCm38)	T350A	probably damaging	Het
Pard3	G	A	8: 128,115,900 (GRCm39)	R663Q	possibly damaging	Het
Pcdh15	T	A	10: 74,479,335 (GRCm39)	I482N	probably benign	Het
Pcsk2	G	A	2: 143,655,501 (GRCm39)	D562N	probably damaging	Het
Pdzk1ip1	T	C	4: 114,950,177 (GRCm39)	M146T	probably benign	Het
Plch1	T	A	3: 63,660,747 (GRCm39)	T279S		Het
Plec	C	T	15: 76,058,177 (GRCm39)	R3920Q	probably damaging	Het
Polr2g	A	T	19: 8,774,631 (GRCm39)	V84E	probably damaging	Het
Ppm1m	C	T	9: 106,075,104 (GRCm39)	R147H	probably damaging	Het
Ppp2r2c	G	T	5: 37,080,383 (GRCm39)	V48L	probably damaging	Het
Pramel25	T	A	4: 143,521,855 (GRCm39)	C490*	probably null	Het
Prcp	A	T	7: 92,524,598 (GRCm39)	T18S	probably benign	Het
Rapsn	A	G	2: 90,872,268 (GRCm39)	S201G	probably damaging	Het
Rragd	A	G	4: 33,012,998 (GRCm39)	T332A	probably benign	Het
Scrn2	A	G	11: 96,921,342 (GRCm39)	D34G	probably damaging	Het
Serpinb6c	T	C	13: 34,079,303 (GRCm39)	T130A	probably benign	Het
Setd1b	G	A	5: 123,298,401 (GRCm39)	G1479D	probably damaging	Het
Shd	T	A	17: 56,283,268 (GRCm39)	L299Q	probably damaging	Het
Slc5a4b	C	T	10: 75,945,896 (GRCm39)	V55I	probably benign	Het
Smg1	C	A	7: 117,755,933 (GRCm39)	R2405L	unknown	Het
Stxbp2	A	T	8: 3,686,392 (GRCm39)	M332L		Het
Tedc2	A	G	17: 24,435,328 (GRCm39)	C354R	probably benign	Het
Tek	A	T	4: 94,692,523 (GRCm39)	R210S	possibly damaging	Het
Tnk2	T	A	16: 32,489,018 (GRCm39)	M286K	probably damaging	Het
Ttc21a	G	A	9: 119,771,686 (GRCm39)	V162I	probably benign	Het
Usf3	T	A	16: 44,042,170 (GRCm39)	C2217S	possibly damaging	Het
Wdr72	C	T	9: 74,118,041 (GRCm39)	P930S	probably damaging	Het
Zan	A	G	5: 137,456,812 (GRCm39)	V1308A	unknown	Het
Zfp521	C	T	18: 13,978,922 (GRCm39)	R497Q	probably damaging	Het
Zfp799	T	A	17: 33,039,435 (GRCm39)	K277M	probably damaging	Het
Zfp949	C	T	9: 88,436,500 (GRCm39)		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
R7145:Adcy3	UTSW	12	4,250,992 (GRCm39)	missense	probably benign	0.20
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

Predicted Primers

PCR Primer
(F):5'- GCTCACCTGACCTATGTTGTAG -3'
(R):5'- TCAGCCACCTTGGTTTGAGAAG -3'

Sequencing Primer
(F):5'- CTATGTTGTAGGTGGAAAAACTGGCC -3'
(R):5'- TATTGGCAGGAGGGGCACTC -3'

Posted On

2022-10-06