Mutagenetix > Incidental Mutation

Incidental Mutation 'R5968:Adcy9'

470712

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

D16Wsu65e, ACtp10

MMRRC Submission

043249-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R5968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4287529-4420498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4298742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 638 (L638P)

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: L875P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: L875P

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: L875P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: L875P

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: L638P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: L638P

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,310,151	T978A	probably benign	Het
Adgrf2	A	G	17: 42,715,172		probably null	Het
Anxa6	T	C	11: 54,994,341	I461V	probably damaging	Het
Arap1	T	C	7: 101,394,738	L668P	probably damaging	Het
B020031M17Rik	T	C	13: 119,950,082		probably benign	Het
Ccdc144b	T	C	3: 36,010,691	Q511R	probably benign	Het
Ces2e	G	T	8: 104,932,995	G498W	probably damaging	Het
Crb1	A	G	1: 139,243,001	C823R	probably damaging	Het
Ehmt1	C	T	2: 24,836,457	R772H	probably damaging	Het
Enpep	A	G	3: 129,280,938	L721S	probably benign	Het
Flii	T	G	11: 60,720,212	I464L	probably benign	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Ift172	T	C	5: 31,261,484	E1162G	probably damaging	Het
Meioc	A	G	11: 102,675,831	S758G	probably damaging	Het
Ndst1	A	C	18: 60,713,076	S54A	probably benign	Het
Ndufaf8	G	T	11: 120,099,229	E56*	probably null	Het
Ndufb7	A	G	8: 83,566,901	D28G	probably benign	Het
Olfr1	T	C	11: 73,395,192	M277V	possibly damaging	Het
Olfr447	A	G	6: 42,911,546	I8V	probably benign	Het
Prkg1	A	T	19: 30,592,924	F443I	probably damaging	Het
Pspc1	C	T	14: 56,764,236	R227H	probably benign	Het
Ptpn21	A	G	12: 98,710,890	Y120H	probably damaging	Het
Runx1t1	A	T	4: 13,841,890		probably null	Het
Ryr3	T	C	2: 112,647,049	D4449G	probably benign	Het
Sacs	C	A	14: 61,189,629	A159E	probably damaging	Het
Slc16a14	T	C	1: 84,912,505	I360V	possibly damaging	Het
Thop1	A	G	10: 81,075,559	D93G	probably benign	Het
Tmem92	A	C	11: 94,778,738	M85R	probably benign	Het
Ttn	T	C	2: 76,857,673		probably benign	Het
Zdhhc5	T	C	2: 84,694,375		probably null	Het
Zfp335	T	C	2: 164,892,394	H1291R	probably damaging	Het
Zfp957	C	T	14: 79,214,056	C101Y	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
R1251:Adcy9	UTSW	16	4311531	missense	probably damaging	0.99
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
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
R9614:Adcy9	UTSW	16	4288683	missense	probably damaging	1.00
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'- GAGCAGTAACAGAGAGTACCTC -3'
(R):5'- GTGAAGCTCTGTGTATGGCC -3'

Sequencing Primer
(F):5'- TTTAGCCCTACCCCAAGT -3'
(R):5'- AAGCTCTGTGTATGGCCAGTTG -3'

Posted On

2017-03-31