Mutagenetix > Incidental Mutation

Incidental Mutation 'R1223:Adcy9'

152816

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

ACtp10, D16Wsu65e

MMRRC Submission

039292-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R1223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4105393-4238362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4116612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 873 (V873E)

Ref Sequence

ENSEMBL: ENSMUSP00000113498 (fasta)

Gene Model

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

AlphaFold

P51830

Predicted Effect

probably damaging
Transcript: ENSMUST00000005719
AA Change: V873E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: V873E

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: V873E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: V873E

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: V636E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: V636E

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl10	A	G	13: 54,726,744 (GRCm39)	D174G	probably damaging	Het
Cd180	A	T	13: 102,842,730 (GRCm39)	Y592F	possibly damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chd2	T	C	7: 73,134,265 (GRCm39)	E694G	probably damaging	Het
Commd3	T	C	2: 18,679,779 (GRCm39)	Y163H	probably benign	Het
Cyp8b1	A	G	9: 121,744,070 (GRCm39)	S421P	possibly damaging	Het
Cysltr2	A	T	14: 73,267,539 (GRCm39)	V57E	probably damaging	Het
Ddx47	G	A	6: 134,989,277 (GRCm39)	V34I	possibly damaging	Het
Dgkz	T	C	2: 91,769,660 (GRCm39)		probably benign	Het
Dsg2	G	T	18: 20,706,550 (GRCm39)	C22F	probably benign	Het
Gbp10	A	C	5: 105,366,867 (GRCm39)	V455G	probably damaging	Het
Gm12185	T	A	11: 48,798,103 (GRCm39)	I797F	probably damaging	Het
Katnip	T	A	7: 125,359,595 (GRCm39)	V62E	possibly damaging	Het
Lrrk2	A	G	15: 91,557,838 (GRCm39)	E58G	probably benign	Het
Mrgprb1	A	G	7: 48,097,435 (GRCm39)	V159A	possibly damaging	Het
Mybphl	A	G	3: 108,282,512 (GRCm39)	T182A	possibly damaging	Het
Or52e7	A	T	7: 104,684,773 (GRCm39)	I123F	probably benign	Het
Or9m1	G	A	2: 87,733,163 (GRCm39)	P286S	probably damaging	Het
Osr1	C	T	12: 9,629,699 (GRCm39)	L191F	probably damaging	Het
Pip4k2b	G	A	11: 97,609,720 (GRCm39)	R406C	probably damaging	Het
Plce1	C	T	19: 38,690,457 (GRCm39)	L714F	probably damaging	Het
Plce1	T	C	19: 38,755,670 (GRCm39)	F1886S	probably damaging	Het
Ppp1cc	A	G	5: 122,306,277 (GRCm39)	E32G	probably damaging	Het
Rnh1	A	G	7: 140,743,120 (GRCm39)	L260P	probably damaging	Het
Serpinb3a	T	A	1: 106,975,282 (GRCm39)	N175I	probably damaging	Het
Sptbn5	T	A	2: 119,902,525 (GRCm39)	I68F	probably damaging	Het
Tas1r2	A	T	4: 139,387,515 (GRCm39)	T325S	probably damaging	Het
Tcirg1	T	C	19: 3,948,733 (GRCm39)	N484S	probably benign	Het
Tenm3	A	T	8: 48,693,431 (GRCm39)	M1833K	possibly damaging	Het
Thoc5	A	G	11: 4,871,922 (GRCm39)	E449G	probably benign	Het
Usp34	A	G	11: 23,396,464 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTAGCACCTGTTATGTGCCACC -3'
(R):5'- AAGCCCCACTGAGGACTTCTTGAC -3'

Sequencing Primer
(F):5'- atgtgtgtgtgccattatgtg -3'
(R):5'- CCACTGAGGACTTCTTGACTTATGG -3'

Posted On

2014-01-29