Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Adcy9'

471723

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

D16Wsu65e, ACtp10

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4287529-4420498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4311567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 722 (E722G)

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: E722G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: E722G

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: E722G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: E722G

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: E485G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: E485G

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

0.1595

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,969,221	T2233I	possibly damaging	Het
9430038I01Rik	T	C	7: 137,387,292		probably benign	Het
Abhd14a	A	T	9: 106,443,951		probably null	Het
Actn2	T	C	13: 12,340,497	N2D	probably benign	Het
Alox12	C	A	11: 70,242,783	V572L	possibly damaging	Het
Ankrd11	T	C	8: 122,889,749	I2434V	possibly damaging	Het
Anks1	T	A	17: 27,991,447		probably null	Het
Bpifa3	T	A	2: 154,136,321	S148T	probably damaging	Het
Bptf	C	T	11: 107,035,864		probably benign	Het
Cabin1	A	T	10: 75,657,839	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,827,235	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,117,478	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,470,619	G280E	probably benign	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Celsr1	G	T	15: 85,919,038		probably null	Het
Cenpj	A	T	14: 56,564,066	I150N	possibly damaging	Het
Cep135	C	A	5: 76,640,890	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,146,626	H224N	probably damaging	Het
Cul5	T	C	9: 53,622,793	R680G	probably damaging	Het
Dhx58	C	A	11: 100,702,209	R224L	probably damaging	Het
Dlx1	C	A	2: 71,531,009	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,282	D279A	probably damaging	Het
Enpp3	A	G	10: 24,774,842	W799R	probably benign	Het
Ercc5	A	G	1: 44,173,406	T675A	probably benign	Het
Farsa	T	A	8: 84,864,432		probably null	Het
Fbxw15	A	T	9: 109,555,252	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,442,103	V62I	probably benign	Het
Gart	A	G	16: 91,624,336	S815P	probably damaging	Het
Glrx5	A	G	12: 105,040,323	N111S	possibly damaging	Het
Gm10845	A	G	14: 79,863,174		noncoding transcript	Het
Gm11639	A	G	11: 104,687,549		probably benign	Het
Gm8882	A	G	6: 132,362,073	S61P	unknown	Het
Gm9925	T	A	18: 74,065,516		probably benign	Het
Gsdme	T	C	6: 50,227,359	N206S	probably benign	Het
Helz2	T	C	2: 181,231,050	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,754,359	S93P	possibly damaging	Het
Ints2	A	T	11: 86,226,748	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,905,128	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,570,321	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,892,470	I255N	probably benign	Het
Myh6	A	G	14: 54,950,508	I1163T	probably benign	Het
Nphs1	A	T	7: 30,466,115	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,500,788	L124Q	probably damaging	Het
Obscn	C	T	11: 59,122,619		probably null	Het
P4ha2	G	A	11: 54,126,412		probably null	Het
Pcdha9	T	A	18: 36,999,111	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,525,988	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekhm1	A	T	11: 103,376,691	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,065,370		probably benign	Het
Prmt9	T	C	8: 77,561,018		probably benign	Het
Rab26	T	C	17: 24,530,399	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,429,580	S942P	probably damaging	Het
Scgb2b18	T	C	7: 33,173,225	T52A	probably damaging	Het
Syt3	C	T	7: 44,392,763	Q349*	probably null	Het
Tas2r107	T	C	6: 131,659,780	N102S	probably benign	Het
Tas2r126	T	A	6: 42,435,000	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,642,778	I105N	probably benign	Het
Tet1	A	C	10: 62,879,773	M81R	probably benign	Het
Togaram2	T	C	17: 71,729,205	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,314,271		noncoding transcript	Het
Ttn	G	A	2: 76,761,235	T12703I	probably damaging	Het
Unc79	A	G	12: 103,125,626	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,583,351	T372I	possibly damaging	Het
Wdr24	T	C	17: 25,827,128	S476P	probably benign	Het
Wdr78	G	A	4: 103,049,589	P676S	probably benign	Het
Zbtb1	T	C	12: 76,386,275	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,395,615	I29L	probably benign	Het
Zfp341	T	A	2: 154,630,441	C315S	probably damaging	Het
Zfp623	C	A	15: 75,948,163	R323S	probably benign	Het
Zfp831	T	A	2: 174,644,092	Y187N	possibly 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
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	not run
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'- AAAGCTGTCTTCTGACTTCCAATG -3'
(R):5'- TCTGTCTTGAGGCAGGCTTC -3'

Sequencing Primer
(F):5'- TCACATGTAGGGACACAAACATG -3'
(R):5'- GCTTCTGGAGGACCCAACTC -3'

Posted On

2017-03-31