Mutagenetix > Incidental Mutations

Incidental Mutation 'R8444:Adcy9'

654409

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: 0.719) question?

Stock #

R8444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4287529-4420498 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4288623 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1113 (T1113A)

Ref Sequence

ENSEMBL: ENSMUSP00000005719 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000005719
AA Change: T1113A

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

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: T1113A

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: T1113A

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

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: T1113A

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: T876A

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

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: T876A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	G	T	11: 70,236,929	R56S	possibly damaging	Het
1700013F07Rik	A	G	3: 108,544,068	H115R	probably benign	Het
Abca14	T	A	7: 120,318,910	I1545K	probably damaging	Het
Abca3	A	G	17: 24,383,985	Y518C	probably damaging	Het
Abcd2	A	G	15: 91,174,636	V535A	probably benign	Het
Afdn	A	T	17: 13,883,800	N1133Y	probably benign	Het
Aip	T	A	19: 4,116,034	D139V	probably damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Aldh16a1	G	A	7: 45,149,691	P56S	probably benign	Het
Alpk3	A	C	7: 81,057,720	T31P	probably benign	Het
Aoc3	G	T	11: 101,341,747	R466S	unknown	Het
Atoh1	T	C	6: 64,729,657	L112P	probably benign	Het
Atp2b2	T	A	6: 113,793,811	N424I	probably benign	Het
Brms1	T	C	19: 5,041,492		probably null	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd34	T	A	1: 194,958,500	S224R	probably benign	Het
Cdh20	T	A	1: 104,970,858	F437I	probably benign	Het
Cdkal1	A	T	13: 29,326,104	V557E	probably benign	Het
Chst5	T	C	8: 111,890,763	H75R	probably damaging	Het
Col5a2	A	T	1: 45,396,145	N713K	probably benign	Het
Cpne5	A	T	17: 29,188,383	M181K	probably benign	Het
Cpt1a	T	C	19: 3,381,981	F731S	probably benign	Het
Cyfip1	A	G	7: 55,872,154	M69V	possibly damaging	Het
Dennd3	A	G	15: 73,570,823	K1232E	probably benign	Het
Dennd4b	A	T	3: 90,273,952	H805L	probably benign	Het
Dnm1l	C	T	16: 16,341,042	R108Q	probably damaging	Het
Dsc1	T	A	18: 20,089,579	D612V	probably benign	Het
Ephb2	C	T	4: 136,661,400	G628R	probably damaging	Het
Esrrb	G	A	12: 86,505,821	R195H	probably benign	Het
Flg2	A	T	3: 93,200,278	E23D	probably damaging	Het
Gja8	A	G	3: 96,919,674	L224P	probably damaging	Het
Hps6	T	G	19: 46,005,428	S601R	possibly damaging	Het
Ice1	T	C	13: 70,604,376	E1197G	probably damaging	Het
Ifnar2	C	A	16: 91,403,969	A366D	possibly damaging	Het
Ighm	A	C	12: 113,421,193	S347A		Het
Immt	C	T	6: 71,871,508	R494*	probably null	Het
Irs2	A	G	8: 11,006,683	V583A	probably damaging	Het
Kcnk4	T	C	19: 6,926,140	E347G	probably damaging	Het
Kif5b	T	A	18: 6,213,245	I716F	probably benign	Het
Klhl1	T	A	14: 96,517,890	D143V	probably benign	Het
Lrp1b	T	C	2: 40,870,260	T2999A		Het
Map3k9	A	G	12: 81,722,196	L1026P	probably damaging	Het
Mtg1	T	C	7: 140,138,370	V54A	probably damaging	Het
Mx1	G	T	16: 97,451,487	C231*	probably null	Het
Olfr1129	G	A	2: 87,575,739	M218I	probably benign	Het
Olfr478	C	A	7: 108,031,863	W160L	probably benign	Het
Olfr507	A	G	7: 108,621,820	I3V	probably benign	Het
Olfr680-ps1	A	G	7: 105,090,958	V227A	probably damaging	Het
Olfr808	T	A	10: 129,767,925	V143E	probably damaging	Het
Otogl	T	A	10: 107,857,114	E836D	probably benign	Het
Pde6d	A	G	1: 86,543,528	S143P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pon1	C	T	6: 5,177,327	W194*	probably null	Het
Rbm25	T	A	12: 83,664,251	S379R	unknown	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Shoc2	A	G	19: 53,988,072	Y131C	probably damaging	Het
Slc17a2	A	T	13: 23,819,078	H237L	probably benign	Het
Slc23a1	T	A	18: 35,624,436	M261L	possibly damaging	Het
Slc35d1	G	C	4: 103,214,699	I35M		Het
Slc8b1	C	T	5: 120,513,138		probably benign	Het
Smr3a	A	C	5: 88,004,752	L8F	unknown	Het
Snx8	G	A	5: 140,358,174	R96C	possibly damaging	Het
Srgap3	A	G	6: 112,775,548	V325A	possibly damaging	Het
Stk40	A	G	4: 126,118,334	T10A	probably benign	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Trim6	G	A	7: 104,232,672	V403M	probably damaging	Het
Ttc25	G	T	11: 100,561,905		probably null	Het
Tysnd1	A	G	10: 61,696,171	R201G	probably benign	Het
Vmn2r67	A	T	7: 85,136,646	F717Y	probably benign	Het
Vmn2r72	A	G	7: 85,738,175	V727A	probably benign	Het
Wdr49	A	C	3: 75,451,690	D43E	probably benign	Het
Zbtb8b	A	G	4: 129,432,631	V247A	probably benign	Het
Zfp532	C	A	18: 65,624,259	A421E	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
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
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
R8519:Adcy9	UTSW	16	4288128	missense	possibly damaging	0.57
R8546:Adcy9	UTSW	16	4418905	missense	probably benign	0.02
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'- TGGTTAAAGCCGACCCTGAG -3'
(R):5'- ACATCATCCCCTACCATGTGG -3'

Sequencing Primer
(F):5'- GACCCTGAGCTTGAAGTTGAACC -3'
(R):5'- TGAGCAGCTCAAGGTCTCTCAG -3'

Posted On

2020-10-20