Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01583:Adcy5'

91455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy5

Ensembl Gene

ENSMUSG00000022840

Gene Name

adenylate cyclase 5

Synonyms

AC5

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

35154877-35305738 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 35283513 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114913]

Predicted Effect

probably benign
Transcript: ENSMUST00000114913

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840

Domain	Start	End	E-Value	Type
low complexity region	47	59	N/A	INTRINSIC
low complexity region	75	89	N/A	INTRINSIC
low complexity region	107	150	N/A	INTRINSIC
low complexity region	158	175	N/A	INTRINSIC
low complexity region	181	208	N/A	INTRINSIC
low complexity region	243	258	N/A	INTRINSIC
low complexity region	269	288	N/A	INTRINSIC
low complexity region	305	320	N/A	INTRINSIC
low complexity region	350	368	N/A	INTRINSIC
CYCc	424	623	2.62e-69	SMART
Pfam:DUF1053	669	762	1.8e-30	PFAM
transmembrane domain	794	816	N/A	INTRINSIC
transmembrane domain	837	856	N/A	INTRINSIC
transmembrane domain	910	932	N/A	INTRINSIC
transmembrane domain	934	956	N/A	INTRINSIC
transmembrane domain	985	1004	N/A	INTRINSIC
CYCc	1032	1240	2.98e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231960

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted inactivation of this gene has been shown to result in motor dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,296,409	M329K	possibly damaging	Het
Abce1	G	A	8: 79,693,447	T300M	probably damaging	Het
Acap1	G	A	11: 69,881,677	S536L	probably damaging	Het
Ap2b1	G	T	11: 83,324,611	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,516,597	S548A	probably benign	Het
Atm	G	A	9: 53,484,247		probably benign	Het
Cep250	T	C	2: 155,976,149	V807A	probably damaging	Het
Ces1g	T	A	8: 93,306,959	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,120,512	Y241H	probably benign	Het
Col9a1	T	C	1: 24,185,144	S136P	unknown	Het
Cux2	C	A	5: 121,874,107	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,682,372	M53K	probably benign	Het
Ddx20	T	C	3: 105,686,670	D123G	probably damaging	Het
Dock4	T	A	12: 40,810,467	L1284*	probably null	Het
Dpp9	A	C	17: 56,211,666	L46R	probably benign	Het
Elavl1	A	T	8: 4,301,699	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,428,995	Y1018C	probably damaging	Het
Fubp1	A	G	3: 152,215,624	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,611,743		probably benign	Het
Gbx2	C	A	1: 89,928,837	R277L	probably damaging	Het
Gm128	T	C	3: 95,240,783	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,275,530	R469W	probably damaging	Het
Ifi30	G	A	8: 70,764,762		probably benign	Het
Kbtbd4	T	C	2: 90,905,908	S88P	probably damaging	Het
Kif23	A	T	9: 61,935,468	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,841,548	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,569,059	S161P	probably benign	Het
Lrcol1	T	A	5: 110,354,578	S107T	probably benign	Het
Lrrc28	A	T	7: 67,545,475		probably null	Het
Ncoa4	T	C	14: 32,172,927	V42A	probably benign	Het
Nkd2	C	T	13: 73,821,480	S277N	probably benign	Het
Nlrp2	A	T	7: 5,337,770	L15Q	probably damaging	Het
Nynrin	T	G	14: 55,870,511	L1025R	probably damaging	Het
Olfr101	C	T	17: 37,299,738	R228H	probably benign	Het
Olfr1134	G	T	2: 87,656,413	C169*	probably null	Het
Piwil4	A	T	9: 14,734,487	F152I	probably damaging	Het
Plod3	T	C	5: 136,996,148	S705P	probably benign	Het
Ppp2r2c	T	A	5: 36,868,822	M1K	probably null	Het
Rgs19	T	C	2: 181,689,453	E129G	probably damaging	Het
Rpap2	T	A	5: 107,620,195	S223T	probably damaging	Het
Shox2	T	C	3: 66,973,771		probably benign	Het
Slc30a4	T	C	2: 122,685,217	I370V	probably benign	Het
Slco1b2	A	G	6: 141,663,672	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,540,067	Y142C	probably damaging	Het
Slco3a1	T	C	7: 74,284,450	N658S	probably benign	Het
Sos1	A	T	17: 80,433,900	S485R	probably benign	Het
Srpk1	A	G	17: 28,606,317	L127P	probably damaging	Het
St3gal6	T	A	16: 58,493,670		probably benign	Het
Stk4	T	A	2: 164,074,214	M1K	probably null	Het
Tbc1d12	A	G	19: 38,882,732	E313G	probably benign	Het
Tbk1	A	G	10: 121,557,229	I472T	probably benign	Het
Tiam1	G	A	16: 89,789,280	R849W	probably damaging	Het
Tle3	A	G	9: 61,410,025	T381A	probably benign	Het
Tmem82	T	G	4: 141,614,643	T337P	probably benign	Het
Tmprss15	T	C	16: 79,071,261	T220A	probably benign	Het
Ung	A	G	5: 114,137,308	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 22,852,401	M32K	probably benign	Het
Vps13d	T	G	4: 145,045,088	D956A	probably damaging	Het
Wdr64	T	A	1: 175,767,156		probably null	Het

Other mutations in Adcy5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Adcy5	APN	16	35253213	missense	possibly damaging	0.49
IGL01608:Adcy5	APN	16	35272165	missense	probably damaging	1.00
IGL02097:Adcy5	APN	16	35272098	missense	probably damaging	1.00
IGL02122:Adcy5	APN	16	35283612	splice site	probably benign
IGL02532:Adcy5	APN	16	35272083	missense	possibly damaging	0.79
IGL02814:Adcy5	APN	16	35303649	missense	probably benign	0.08
IGL02877:Adcy5	APN	16	35298600	missense	probably damaging	1.00
IGL03026:Adcy5	APN	16	35157042	missense	probably benign	0.41
IGL03345:Adcy5	APN	16	35248814	missense	probably benign	0.05
H8562:Adcy5	UTSW	16	35267181	missense	probably damaging	1.00
H8786:Adcy5	UTSW	16	35267181	missense	probably damaging	1.00
R0050:Adcy5	UTSW	16	35304303	utr 3 prime	probably benign
R0091:Adcy5	UTSW	16	35270998	critical splice donor site	probably null
R0112:Adcy5	UTSW	16	35156178	missense	possibly damaging	0.85
R0398:Adcy5	UTSW	16	35269068	missense	probably damaging	1.00
R0457:Adcy5	UTSW	16	35274545	missense	probably benign	0.07
R0554:Adcy5	UTSW	16	35294017	missense	probably benign	0.26
R0698:Adcy5	UTSW	16	35290082	missense	possibly damaging	0.78
R0761:Adcy5	UTSW	16	35270825	splice site	probably benign
R0865:Adcy5	UTSW	16	35274471	missense	probably damaging	0.96
R0927:Adcy5	UTSW	16	35156243	missense	probably benign	0.32
R0945:Adcy5	UTSW	16	35290111	missense	probably benign
R1534:Adcy5	UTSW	16	35253259	missense	possibly damaging	0.92
R1565:Adcy5	UTSW	16	35268957	missense	probably damaging	1.00
R1721:Adcy5	UTSW	16	35298424	missense	probably damaging	1.00
R1839:Adcy5	UTSW	16	35248940	missense	probably damaging	1.00
R2047:Adcy5	UTSW	16	35290108	missense	possibly damaging	0.78
R3052:Adcy5	UTSW	16	35303716	missense	probably damaging	1.00
R3053:Adcy5	UTSW	16	35303716	missense	probably damaging	1.00
R3827:Adcy5	UTSW	16	35290097	missense	probably benign	0.03
R4398:Adcy5	UTSW	16	35268993	missense	probably damaging	1.00
R4700:Adcy5	UTSW	16	35279216	missense	possibly damaging	0.49
R4965:Adcy5	UTSW	16	35278502	missense	possibly damaging	0.82
R5229:Adcy5	UTSW	16	35269070	missense	probably damaging	0.99
R5456:Adcy5	UTSW	16	35298522	missense	probably damaging	1.00
R5586:Adcy5	UTSW	16	35157116	missense	probably damaging	0.99
R5757:Adcy5	UTSW	16	35272081	missense	probably damaging	1.00
R5959:Adcy5	UTSW	16	35298410	missense	probably damaging	1.00
R6011:Adcy5	UTSW	16	35157228	missense	probably benign	0.05
R6277:Adcy5	UTSW	16	35289526	missense	probably benign	0.02
R6296:Adcy5	UTSW	16	35303710	missense	probably damaging	1.00
R6379:Adcy5	UTSW	16	35293999	missense	probably benign	0.13
R6431:Adcy5	UTSW	16	35279237	missense	probably damaging	1.00
R6685:Adcy5	UTSW	16	35279216	missense	possibly damaging	0.49
R6728:Adcy5	UTSW	16	35157165	missense	possibly damaging	0.88
R6755:Adcy5	UTSW	16	35303634	missense	possibly damaging	0.95
R6887:Adcy5	UTSW	16	35298590	missense	possibly damaging	0.74
R7029:Adcy5	UTSW	16	35299648	missense	probably null	0.91
R7047:Adcy5	UTSW	16	35267215	missense	probably damaging	1.00
R7050:Adcy5	UTSW	16	35303700	missense	possibly damaging	0.88
R7102:Adcy5	UTSW	16	35299625	missense	probably damaging	1.00
R7150:Adcy5	UTSW	16	35298534	missense	probably damaging	1.00
R7242:Adcy5	UTSW	16	35156835	missense	probably damaging	1.00
R7387:Adcy5	UTSW	16	35272090	missense	probably damaging	1.00
V7732:Adcy5	UTSW	16	35283541	missense	probably benign	0.00
X0022:Adcy5	UTSW	16	35299456	missense	probably damaging	0.99

Posted On

2013-12-09