Mutagenetix > Incidental Mutation

Incidental Mutation 'R0105:Adcy9'

17404

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

ACtp10, D16Wsu65e

MMRRC Submission

038391-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R0105 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

4105393-4238362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4106252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 954 (V954A)

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: V1191A

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

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: V1191A

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: V1191A

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

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: V1191A

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: V954A

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

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: V954A

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

Meta Mutation Damage Score

0.8865

Coding Region Coverage

1x: 85.3%
3x: 77.7%
10x: 47.9%
20x: 15.1%

Validation Efficiency

96% (53/55)

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
A530053G22Rik	T	C	6: 60,379,137 (GRCm39)		noncoding transcript	Het
Aldh8a1	T	A	10: 21,271,438 (GRCm39)	M388K	probably damaging	Het
Cdsn	A	C	17: 35,867,035 (GRCm39)	R521S	possibly damaging	Het
Cog3	A	G	14: 75,959,580 (GRCm39)	S591P	probably damaging	Het
Cplane1	T	A	15: 8,216,876 (GRCm39)	V698D	probably benign	Het
Crmp1	T	A	5: 37,441,479 (GRCm39)	D520E	probably damaging	Het
Ddhd1	T	C	14: 45,848,147 (GRCm39)	D507G	probably benign	Het
Dnah6	C	T	6: 73,132,262 (GRCm39)	A1147T	probably damaging	Het
Dsg2	T	C	18: 20,735,111 (GRCm39)	S1030P	probably benign	Het
Fam20b	T	C	1: 156,518,140 (GRCm39)	E218G	probably damaging	Het
Gab2	T	C	7: 96,948,279 (GRCm39)	Y290H	probably damaging	Het
Gm973	A	G	1: 59,621,633 (GRCm39)	Q591R	probably null	Het
Gsdmc2	T	C	15: 63,700,026 (GRCm39)	T249A	probably benign	Het
Il15ra	T	A	2: 11,735,459 (GRCm39)		probably null	Het
Isy1	G	A	6: 87,796,167 (GRCm39)	R257W	probably damaging	Het
Krt76	T	C	15: 101,793,347 (GRCm39)	T564A	unknown	Het
Lrrk1	G	T	7: 65,942,089 (GRCm39)	D716E	probably damaging	Het
Mogat1	A	G	1: 78,500,307 (GRCm39)	T124A	probably benign	Het
Mroh7	T	C	4: 106,568,467 (GRCm39)	T48A	possibly damaging	Het
Or4a71	T	C	2: 89,358,707 (GRCm39)	T16A	probably benign	Het
Pkhd1	G	A	1: 20,593,956 (GRCm39)	Q1386*	probably null	Het
Pla2r1	T	C	2: 60,345,325 (GRCm39)	R344G	possibly damaging	Het
Plekhg4	G	A	8: 106,108,644 (GRCm39)	V1202M	possibly damaging	Het
Ppil4	A	G	10: 7,674,210 (GRCm39)	Y118C	probably damaging	Het
Ptpn4	C	T	1: 119,615,335 (GRCm39)		probably null	Het
Reln	G	A	5: 22,253,813 (GRCm39)	R600W	probably damaging	Het
Sumf2	T	A	5: 129,878,735 (GRCm39)		probably benign	Het
Tex10	C	A	4: 48,468,957 (GRCm39)	V73F	probably damaging	Het
Tgm5	C	A	2: 120,907,493 (GRCm39)	G77W	probably damaging	Het
Tnfrsf21	T	A	17: 43,351,082 (GRCm39)		probably null	Het
Treml2	C	T	17: 48,609,856 (GRCm39)	T96I	probably damaging	Het
Zcchc17	T	A	4: 130,243,099 (GRCm39)	D28V	probably benign	Het
Zkscan6	T	A	11: 65,712,811 (GRCm39)	L248Q	probably damaging	Het

Other mutations in Adcy9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Adcy9	APN	16	4,122,446 (GRCm39)	missense	probably benign
IGL00326:Adcy9	APN	16	4,112,560 (GRCm39)	missense	probably benign
IGL00792:Adcy9	APN	16	4,106,403 (GRCm39)	missense	probably damaging	1.00
IGL01610:Adcy9	APN	16	4,235,978 (GRCm39)	missense	probably damaging	1.00
IGL02376:Adcy9	APN	16	4,236,544 (GRCm39)	missense	probably benign	0.01
IGL02424:Adcy9	APN	16	4,106,461 (GRCm39)	missense	probably damaging	1.00
IGL03097:Adcy9	UTSW	16	4,235,930 (GRCm39)	missense	possibly damaging	0.94
PIT4243001:Adcy9	UTSW	16	4,236,271 (GRCm39)	missense	probably damaging	1.00
R0043:Adcy9	UTSW	16	4,106,879 (GRCm39)	missense	probably benign	0.12
R0085:Adcy9	UTSW	16	4,106,088 (GRCm39)	missense	probably benign
R0105:Adcy9	UTSW	16	4,106,252 (GRCm39)	missense	probably damaging	1.00
R0371:Adcy9	UTSW	16	4,105,911 (GRCm39)	missense	probably benign	0.06
R0613:Adcy9	UTSW	16	4,237,403 (GRCm39)	missense	probably damaging	1.00
R0689:Adcy9	UTSW	16	4,130,668 (GRCm39)	splice site	probably benign
R0744:Adcy9	UTSW	16	4,237,135 (GRCm39)	missense	possibly damaging	0.69
R0836:Adcy9	UTSW	16	4,237,135 (GRCm39)	missense	possibly damaging	0.69
R1223:Adcy9	UTSW	16	4,116,612 (GRCm39)	missense	probably damaging	1.00
R1251:Adcy9	UTSW	16	4,129,395 (GRCm39)	missense	probably damaging	0.99
R1689:Adcy9	UTSW	16	4,115,426 (GRCm39)	splice site	probably null
R1922:Adcy9	UTSW	16	4,129,521 (GRCm39)	missense	probably damaging	1.00
R1955:Adcy9	UTSW	16	4,236,523 (GRCm39)	missense	possibly damaging	0.63
R1989:Adcy9	UTSW	16	4,116,591 (GRCm39)	missense	probably damaging	1.00
R1998:Adcy9	UTSW	16	4,115,276 (GRCm39)	missense	probably benign	0.00
R2321:Adcy9	UTSW	16	4,106,132 (GRCm39)	missense	probably damaging	1.00
R3160:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R3161:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R3162:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R3162:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R4065:Adcy9	UTSW	16	4,106,298 (GRCm39)	missense	probably damaging	1.00
R4909:Adcy9	UTSW	16	4,116,618 (GRCm39)	missense	probably benign	0.03
R5078:Adcy9	UTSW	16	4,141,771 (GRCm39)	missense	probably benign	0.00
R5870:Adcy9	UTSW	16	4,236,232 (GRCm39)	missense	probably damaging	1.00
R5968:Adcy9	UTSW	16	4,116,606 (GRCm39)	missense	probably damaging	1.00
R5975:Adcy9	UTSW	16	4,129,431 (GRCm39)	missense	probably damaging	0.98
R6014:Adcy9	UTSW	16	4,236,683 (GRCm39)	missense	probably damaging	1.00
R6035:Adcy9	UTSW	16	4,122,377 (GRCm39)	missense	probably benign
R6035:Adcy9	UTSW	16	4,122,377 (GRCm39)	missense	probably benign
R6081:Adcy9	UTSW	16	4,112,545 (GRCm39)	missense	probably benign
R6192:Adcy9	UTSW	16	4,105,818 (GRCm39)	missense	probably benign
R6604:Adcy9	UTSW	16	4,122,271 (GRCm39)	missense	probably damaging	0.98
R6739:Adcy9	UTSW	16	4,236,658 (GRCm39)	missense	probably benign
R6829:Adcy9	UTSW	16	4,125,018 (GRCm39)	critical splice donor site	probably null
R6986:Adcy9	UTSW	16	4,129,441 (GRCm39)	missense	probably damaging	0.99
R7491:Adcy9	UTSW	16	4,236,673 (GRCm39)	missense	possibly damaging	0.51
R7561:Adcy9	UTSW	16	4,236,028 (GRCm39)	missense	probably damaging	1.00
R7614:Adcy9	UTSW	16	4,236,088 (GRCm39)	missense	probably damaging	1.00
R7803:Adcy9	UTSW	16	4,122,244 (GRCm39)	missense	probably benign	0.11
R7993:Adcy9	UTSW	16	4,235,866 (GRCm39)	missense	probably damaging	1.00
R8444:Adcy9	UTSW	16	4,106,487 (GRCm39)	missense	probably damaging	1.00
R8519:Adcy9	UTSW	16	4,105,992 (GRCm39)	missense	possibly damaging	0.57
R8546:Adcy9	UTSW	16	4,236,769 (GRCm39)	missense	probably benign	0.02
R8751:Adcy9	UTSW	16	4,129,492 (GRCm39)	missense	probably damaging	0.97
R9004:Adcy9	UTSW	16	4,106,378 (GRCm39)	missense	probably damaging	1.00
R9076:Adcy9	UTSW	16	4,106,687 (GRCm39)	missense	probably damaging	1.00
R9351:Adcy9	UTSW	16	4,236,228 (GRCm39)	missense	probably damaging	1.00
R9491:Adcy9	UTSW	16	4,236,052 (GRCm39)	missense	probably damaging	1.00
R9571:Adcy9	UTSW	16	4,141,653 (GRCm39)	missense	probably benign	0.14
R9614:Adcy9	UTSW	16	4,106,547 (GRCm39)	missense	probably damaging	1.00
X0023:Adcy9	UTSW	16	4,141,780 (GRCm39)	missense	probably benign	0.00
Z1176:Adcy9	UTSW	16	4,125,096 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-31