Mutagenetix > Incidental Mutation

Incidental Mutation 'R1251:Adcy9'

151775

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

D16Wsu65e, ACtp10

MMRRC Submission

039318-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4287529-4420498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4311531 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 497 (E497V)

Ref Sequence

ENSEMBL: ENSMUSP00000113421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005719] [ENSMUST00000117801] [ENSMUST00000120080]

AlphaFold

P51830

Predicted Effect

probably damaging
Transcript: ENSMUST00000005719
AA Change: E734V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: E734V

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	49	75	N/A	INTRINSIC
transmembrane domain	118	137	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	177	196	N/A	INTRINSIC
transmembrane domain	216	235	N/A	INTRINSIC
transmembrane domain	242	261	N/A	INTRINSIC
transmembrane domain	281	300	N/A	INTRINSIC
CYCc	325	547	1.69e-63	SMART
transmembrane domain	791	813	N/A	INTRINSIC
transmembrane domain	823	845	N/A	INTRINSIC
transmembrane domain	858	880	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC
transmembrane domain	977	996	N/A	INTRINSIC
CYCc	1023	1227	1.26e-39	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117801
AA Change: E734V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: E734V

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	49	75	N/A	INTRINSIC
transmembrane domain	118	137	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	177	196	N/A	INTRINSIC
transmembrane domain	216	235	N/A	INTRINSIC
transmembrane domain	242	261	N/A	INTRINSIC
transmembrane domain	281	300	N/A	INTRINSIC
CYCc	325	547	1.69e-63	SMART
transmembrane domain	791	813	N/A	INTRINSIC
transmembrane domain	823	845	N/A	INTRINSIC
transmembrane domain	858	880	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC
transmembrane domain	977	996	N/A	INTRINSIC
CYCc	1023	1227	1.26e-39	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120080
AA Change: E497V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: E497V

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	44	63	N/A	INTRINSIC
CYCc	88	310	1.69e-63	SMART
transmembrane domain	554	576	N/A	INTRINSIC
transmembrane domain	586	608	N/A	INTRINSIC
transmembrane domain	621	643	N/A	INTRINSIC
transmembrane domain	653	675	N/A	INTRINSIC
transmembrane domain	740	759	N/A	INTRINSIC
CYCc	786	990	1.26e-39	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Acap2	A	T	16: 31,108,171	Y509N	probably damaging	Het
Bcat2	T	G	7: 45,575,986	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,293,372	M952V	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cfap46	C	T	7: 139,601,265	V2607I	probably benign	Het
Clec18a	T	C	8: 111,081,638	I54V	possibly damaging	Het
Coil	A	G	11: 88,982,299	E455G	possibly damaging	Het
Copg1	A	T	6: 87,890,007	K75*	probably null	Het
Cyp2j12	G	A	4: 96,115,666	Q238*	probably null	Het
D17Wsu92e	C	T	17: 27,786,070		probably null	Het
Eif3i	T	C	4: 129,593,385	E229G	probably damaging	Het
Exoc2	T	A	13: 30,886,276	N411Y	probably benign	Het
Eya2	T	A	2: 165,754,484	M305K	probably damaging	Het
Faim	C	T	9: 98,992,634	T78M	probably damaging	Het
Fgg	T	A	3: 83,012,980	D355E	probably benign	Het
Foxn1	A	G	11: 78,358,785	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,386,015	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,345,570	R21G	probably damaging	Het
Inpp4b	G	A	8: 81,890,753	G220R	probably benign	Het
Irx6	A	G	8: 92,678,253	S250G	possibly damaging	Het
Lyst	T	C	13: 13,634,483	I246T	probably benign	Het
Mcm3	G	A	1: 20,812,672	Q353*	probably null	Het
Mfhas1	A	G	8: 35,591,053	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192		probably null	Het
Nectin3	A	T	16: 46,463,842	S160T	possibly damaging	Het
Npc2	A	G	12: 84,760,884	S67P	probably damaging	Het
Olfr1036	G	A	2: 86,074,820	V27M	probably benign	Het
Olfr513	T	G	7: 108,754,907	F17C	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Phf21a	G	A	2: 92,359,199	S601N	probably benign	Het
Pold1	C	T	7: 44,535,051	V842I	probably benign	Het
Rabgap1	A	G	2: 37,543,234		probably null	Het
Setd1a	T	A	7: 127,797,424		probably benign	Het
Sgo2a	A	T	1: 57,999,962		probably null	Het
Sult2a8	T	A	7: 14,425,425	K90*	probably null	Het
Tlr2	T	C	3: 83,838,269	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,876,829	F153S	probably benign	Het
Tube1	G	T	10: 39,134,208	G10*	probably null	Het
Vmn2r10	T	C	5: 108,996,024	M687V	probably benign	Het
Zc3h8	G	A	2: 128,935,369	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089	D18E	probably damaging	Het

Other mutations in Adcy9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Adcy9	APN	16	4304582	missense	probably benign
IGL00326:Adcy9	APN	16	4294696	missense	probably benign
IGL00792:Adcy9	APN	16	4288539	missense	probably damaging	1.00
IGL01610:Adcy9	APN	16	4418114	missense	probably damaging	1.00
IGL02376:Adcy9	APN	16	4418680	missense	probably benign	0.01
IGL02424:Adcy9	APN	16	4288597	missense	probably damaging	1.00
IGL03097:Adcy9	UTSW	16	4418066	missense	possibly damaging	0.94
PIT4243001:Adcy9	UTSW	16	4418407	missense	probably damaging	1.00
R0043:Adcy9	UTSW	16	4289015	missense	probably benign	0.12
R0085:Adcy9	UTSW	16	4288224	missense	probably benign
R0105:Adcy9	UTSW	16	4288388	missense	probably damaging	1.00
R0105:Adcy9	UTSW	16	4288388	missense	probably damaging	1.00
R0371:Adcy9	UTSW	16	4288047	missense	probably benign	0.06
R0613:Adcy9	UTSW	16	4419539	missense	probably damaging	1.00
R0689:Adcy9	UTSW	16	4312804	splice site	probably benign
R0744:Adcy9	UTSW	16	4419271	missense	possibly damaging	0.69
R0836:Adcy9	UTSW	16	4419271	missense	possibly damaging	0.69
R1223:Adcy9	UTSW	16	4298748	missense	probably damaging	1.00
R1689:Adcy9	UTSW	16	4297562	splice site	probably null
R1922:Adcy9	UTSW	16	4311657	missense	probably damaging	1.00
R1955:Adcy9	UTSW	16	4418659	missense	possibly damaging	0.63
R1989:Adcy9	UTSW	16	4298727	missense	probably damaging	1.00
R1998:Adcy9	UTSW	16	4297412	missense	probably benign	0.00
R2321:Adcy9	UTSW	16	4288268	missense	probably damaging	1.00
R3160:Adcy9	UTSW	16	4311588	missense	probably damaging	1.00
R3161:Adcy9	UTSW	16	4311588	missense	probably damaging	1.00
R3162:Adcy9	UTSW	16	4311588	missense	probably damaging	1.00
R3162:Adcy9	UTSW	16	4311588	missense	probably damaging	1.00
R4065:Adcy9	UTSW	16	4288434	missense	probably damaging	1.00
R4909:Adcy9	UTSW	16	4298754	missense	probably benign	0.03
R5078:Adcy9	UTSW	16	4323907	missense	probably benign	0.00
R5870:Adcy9	UTSW	16	4418368	missense	probably damaging	1.00
R5968:Adcy9	UTSW	16	4298742	missense	probably damaging	1.00
R5975:Adcy9	UTSW	16	4311567	missense	probably damaging	0.98
R6014:Adcy9	UTSW	16	4418819	missense	probably damaging	1.00
R6035:Adcy9	UTSW	16	4304513	missense	probably benign
R6035:Adcy9	UTSW	16	4304513	missense	probably benign
R6081:Adcy9	UTSW	16	4294681	missense	probably benign
R6192:Adcy9	UTSW	16	4287954	missense	probably benign
R6604:Adcy9	UTSW	16	4304407	missense	probably damaging	0.98
R6739:Adcy9	UTSW	16	4418794	missense	probably benign
R6829:Adcy9	UTSW	16	4307154	critical splice donor site	probably null
R6986:Adcy9	UTSW	16	4311577	missense	probably damaging	0.99
R7491:Adcy9	UTSW	16	4418809	missense	possibly damaging	0.51
R7561:Adcy9	UTSW	16	4418164	missense	probably damaging	1.00
R7614:Adcy9	UTSW	16	4418224	missense	probably damaging	1.00
R7803:Adcy9	UTSW	16	4304380	missense	probably benign	0.11
R7993:Adcy9	UTSW	16	4418002	missense	probably damaging	1.00
R8444:Adcy9	UTSW	16	4288623	missense	probably damaging	1.00
R8519:Adcy9	UTSW	16	4288128	missense	possibly damaging	0.57
R8546:Adcy9	UTSW	16	4418905	missense	probably benign	0.02
R8751:Adcy9	UTSW	16	4311628	missense	probably damaging	0.97
R9004:Adcy9	UTSW	16	4288514	missense	probably damaging	1.00
R9076:Adcy9	UTSW	16	4288823	missense	probably damaging	1.00
R9351:Adcy9	UTSW	16	4418364	missense	probably damaging	1.00
R9491:Adcy9	UTSW	16	4418188	missense	probably damaging	1.00
R9571:Adcy9	UTSW	16	4323789	missense	probably benign	0.14
X0023:Adcy9	UTSW	16	4323916	missense	probably benign	0.00
Z1176:Adcy9	UTSW	16	4307232	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGGGCAGGCTCAGCATTTG -3'
(R):5'- ATTGACTCCCAGGACTCAGTGTGG -3'

Sequencing Primer
(F):5'- AGGCTCAGCATTTGTCACAG -3'
(R):5'- AGAATGGACTTCTGAGCCCTC -3'

Posted On

2014-01-29