Mutagenetix > Incidental Mutations

Incidental Mutation 'R6604:Adcy9'

525563

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

D16Wsu65e, ACtp10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.602) question?

Stock #

R6604 (G1)

Quality Score

216.009

Status

Not validated

Chromosome

Chromosomal Location

4287529-4420498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4304407 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 830 (L830P)

Ref Sequence

ENSEMBL: ENSMUSP00000113498 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000005719
AA Change: L830P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: L830P

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: L830P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: L830P

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

possibly damaging
Transcript: ENSMUST00000120080
AA Change: L593P

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: L593P

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: 98.1%
20x: 94.4%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,439,579		probably benign	Het
Abca13	T	G	11: 9,378,384	F3486V	probably damaging	Het
Aurkb	T	A	11: 69,048,562	L157*	probably null	Het
Bbs10	T	G	10: 111,301,104	L693V	possibly damaging	Het
Dna2	G	T	10: 62,967,743		probably null	Het
Ext1	A	G	15: 53,083,159	F550L	probably damaging	Het
Gm11639	T	A	11: 104,698,946	L123*	probably null	Het
Gm13101	T	C	4: 143,965,997	R145G	probably benign	Het
Gm5129	A	G	5: 29,735,767		probably benign	Het
Golm1	A	G	13: 59,638,383	Y332H	probably damaging	Het
Gpbp1l1	C	T	4: 116,573,505	P58S	probably benign	Het
Grk4	A	T	5: 34,719,864	D301V	probably damaging	Het
Haus1	T	C	18: 77,764,097	E106G	probably damaging	Het
Hpd	T	C	5: 123,180,901		probably null	Het
Kcnj6	C	A	16: 94,762,645	E313D	probably damaging	Het
Lmna	A	G	3: 88,488,282	V57A	probably damaging	Het
Lrrtm1	T	C	6: 77,244,238	F226S	possibly damaging	Het
Otogl	T	C	10: 107,822,034		probably null	Het
Pgr	A	C	9: 8,946,866	T703P	possibly damaging	Het
Ppig	T	C	2: 69,741,581	S215P	unknown	Het
Rasgrp3	A	C	17: 75,503,115	N270T	probably benign	Het
Rp1	C	A	1: 4,019,128	K1305N	unknown	Het
Shc1	A	G	3: 89,421,879	Y10C	probably damaging	Het
Slc12a1	G	T	2: 125,184,815	D457Y	probably damaging	Het
Sncaip	A	G	18: 52,905,846	Q544R	possibly damaging	Het
Socs5	T	C	17: 87,135,125	Y498H	probably damaging	Het
Szt2	T	C	4: 118,385,474	D1472G	probably benign	Het
Tmem163	A	G	1: 127,491,610	M286T	possibly damaging	Het
Tmem236	A	G	2: 14,174,701	T38A	probably benign	Het
Vmn2r29	A	T	7: 7,231,859	V676E	probably damaging	Het
Vps13d	A	G	4: 145,181,124	V56A	probably damaging	Het
Xirp2	T	C	2: 67,509,845	I810T	possibly damaging	Het
Zfp958	T	C	8: 4,628,245	L90P	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
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
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
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'- TTAGATCTGGCATCAGCTGGG -3'
(R):5'- TTCTCCTGTGAAGACGTTCG -3'

Sequencing Primer
(F):5'- CTCTAGTGTGCCACCAGTGTG -3'
(R):5'- TGAAGACGTTCGCCAGTG -3'

Posted On

2018-06-22