Mutagenetix > Incidental Mutation

Incidental Mutation 'R6739:Adcy9'

530368

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

ACtp10, D16Wsu65e

MMRRC Submission

044857-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R6739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4105393-4238362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4236658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 14 (V14A)

Ref Sequence

ENSEMBL: ENSMUSP00000113421 (fasta)

Gene Model

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

AlphaFold

P51830

Predicted Effect

probably benign
Transcript: ENSMUST00000005719
AA Change: V251A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: V251A

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 benign
Transcript: ENSMUST00000117801
AA Change: V251A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: V251A

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 benign
Transcript: ENSMUST00000120080
AA Change: V14A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: V14A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (33/34)

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
Ank2	A	T	3: 126,873,643 (GRCm39)	N59K	probably damaging	Het
Ano4	T	C	10: 88,863,114 (GRCm39)	Y286C	probably damaging	Het
Arhgap21	G	A	2: 20,885,543 (GRCm39)	H545Y	possibly damaging	Het
Arid1a	T	A	4: 133,414,937 (GRCm39)	S1152C	unknown	Het
Cfap73	T	C	5: 120,768,258 (GRCm39)	T167A	probably benign	Het
Ctbs	A	T	3: 146,165,254 (GRCm39)		probably null	Het
Dmgdh	T	A	13: 93,857,123 (GRCm39)	N742K	probably benign	Het
Dmxl1	T	C	18: 50,011,313 (GRCm39)	S1157P	probably benign	Het
Dnm3	T	C	1: 162,305,352 (GRCm39)	N14S	probably damaging	Het
Dpp4	C	T	2: 62,217,439 (GRCm39)	V53I	probably benign	Het
Etl4	A	G	2: 20,718,246 (GRCm39)	N329S	probably damaging	Het
Fbxw25	A	G	9: 109,480,699 (GRCm39)	V327A	probably benign	Het
Gsg1	T	A	6: 135,214,612 (GRCm39)	Q299L	probably damaging	Het
Igsf23	A	G	7: 19,678,673 (GRCm39)	L39P	probably damaging	Het
Il17rd	A	G	14: 26,821,488 (GRCm39)	R261G	possibly damaging	Het
Krt75	C	T	15: 101,479,503 (GRCm39)	D276N	probably benign	Het
Lox	T	C	18: 52,660,031 (GRCm39)	T268A	possibly damaging	Het
Mroh4	T	C	15: 74,481,568 (GRCm39)	S825G	probably benign	Het
Nlrp9c	T	C	7: 26,084,850 (GRCm39)	D243G	probably damaging	Het
Or10a5	T	C	7: 106,636,018 (GRCm39)	Y219H	probably damaging	Het
Or1x6	T	A	11: 50,939,564 (GRCm39)	V210E	probably damaging	Het
Picalm	C	A	7: 89,825,916 (GRCm39)	T131N	probably damaging	Het
Pitpnm1	T	A	19: 4,160,522 (GRCm39)	L781H	probably damaging	Het
Proz	A	T	8: 13,123,451 (GRCm39)	I241F	possibly damaging	Het
Rb1cc1	A	G	1: 6,304,454 (GRCm39)	D67G	probably damaging	Het
Rnf213	T	A	11: 119,333,097 (GRCm39)	C2769S	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,913,836 (GRCm39)	I1076T	possibly damaging	Het
Snrnp70	A	T	7: 45,036,843 (GRCm39)	D100E	probably damaging	Het
Triobp	T	A	15: 78,850,566 (GRCm39)	L240Q	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,637 (GRCm39)	S781P	probably damaging	Het
Zfp451	A	G	1: 33,842,675 (GRCm39)		probably benign	Het
Zfta	C	T	19: 7,398,712 (GRCm39)	R243*	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
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
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'- ACTTCCAGATCTTTGCCGTG -3'
(R):5'- TTTCAGGTTTGGACACCTCTG -3'

Sequencing Primer
(F):5'- TTGTCCCACCTTGAGAAAGG -3'
(R):5'- CAGGTTTGGACACCTCTGTCAGG -3'

Posted On

2018-08-01