Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Adcy3'

565817

Institutional Source

Beutler Lab

Gene Symbol

Adcy3

Ensembl Gene

ENSMUSG00000020654

Gene Name

adenylate cyclase 3

Synonyms

AC3

MMRRC Submission

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 #

R7283 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4133103-4213525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4203563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 672 (I672V)

Ref Sequence

ENSEMBL: ENSMUSP00000020984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020984]

AlphaFold

Q8VHH7

Predicted Effect

not run
Transcript: ENSMUST00000020984
AA Change: I672V

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: I672V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
IGL02097:Adcy3	APN	12	4212118	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2019-06-26