Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Adcy3'

620435

Institutional Source

Beutler Lab

Gene Symbol

Adcy3

Ensembl Gene

ENSMUSG00000020654

Gene Name

adenylate cyclase 3

Synonyms

AC3, ACIII

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.877) question?

Stock #

R8074 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4183397-4263525 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4184420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000020984 (fasta)

Gene Model

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

AlphaFold

Q8VHH7

Predicted Effect

probably benign
Transcript: ENSMUST00000020984
AA Change: V32A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020984
Gene: ENSMUSG00000020654
AA Change: V32A

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: ENSMUST00000124505
AA Change: V32A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122073
Gene: ENSMUSG00000020654
AA Change: V32A

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: V32A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115406
Gene: ENSMUSG00000020654
AA Change: V32A

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: ENSMUST00000152065
AA Change: V32A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115644
Gene: ENSMUSG00000020654
AA Change: V32A

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

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Scfd2	G	T	5: 74,680,257 (GRCm39)	Q299K	probably benign	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly damaging	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
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'- GTTGGACGCCCTTCATTCATAAC -3'
(R):5'- CCACGTAGCAGTCAAAGAGG -3'

Sequencing Primer
(F):5'- GCCCTTCATTCATAACCAAGAGG -3'
(R):5'- CAGTCAAAGAGGGCCGC -3'

Posted On

2020-01-23