Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Adcy3'

694592

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: 0.871) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4133103-4213525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4195208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 382 (D382G)

Ref Sequence

ENSEMBL: ENSMUSP00000020984 (fasta)

Gene Model

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

AlphaFold

Q8VHH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020984
AA Change: D382G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: D382G

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: D382G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: D382G

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: D382G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: D382G

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 damaging
Transcript: ENSMUST00000152065
AA Change: D382G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: D382G

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

Meta Mutation Damage Score

0.8504

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly damaging	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
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
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

PCR Primer
(F):5'- AGCCGTAAGTCCCAAATGC -3'
(R):5'- ATCCCAAACTCCGGTTTCCAG -3'

Sequencing Primer
(F):5'- TGCTACTGGGCTCCTCGAC -3'
(R):5'- AACAAACAAAAACAAGCCAGAACTG -3'

Posted On

2022-01-20