Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Adcy5'

360725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy5

Ensembl Gene

ENSMUSG00000022840

Gene Name

adenylate cyclase 5

Synonyms

AC5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

35154877-35305738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35303649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1233 (T1233A)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

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

AlphaFold

P84309

Predicted Effect

probably benign
Transcript: ENSMUST00000114913
AA Change: T1233A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: T1233A

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	probably damaging	Het

Other mutations in Adcy5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Adcy5	APN	16	35253213	missense	possibly damaging	0.49
IGL01583:Adcy5	APN	16	35283513	splice site	probably benign
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
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
R7654:Adcy5	UTSW	16	35270947	missense	probably damaging	1.00
R7718:Adcy5	UTSW	16	35280415	missense	probably benign	0.42
R7834:Adcy5	UTSW	16	35157200	missense	probably benign	0.03
R8172:Adcy5	UTSW	16	35157057	missense	probably damaging	0.96
R8772:Adcy5	UTSW	16	35299588	missense	probably damaging	1.00
R8983:Adcy5	UTSW	16	35156862	missense	possibly damaging	0.88
R9031:Adcy5	UTSW	16	35299489	missense	probably damaging	1.00
R9070:Adcy5	UTSW	16	35280400	missense	probably damaging	0.99
R9149:Adcy5	UTSW	16	35272111	missense	probably damaging	1.00
R9190:Adcy5	UTSW	16	35268994	nonsense	probably null
R9256:Adcy5	UTSW	16	35303682	missense	probably damaging	1.00
R9557:Adcy5	UTSW	16	35270957	missense	probably damaging	1.00
R9776:Adcy5	UTSW	16	35280355	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
Z1176:Adcy5	UTSW	16	35156321	missense	unknown
Z1176:Adcy5	UTSW	16	35290185	missense	probably benign	0.03
Z1176:Adcy5	UTSW	16	35291544	missense	not run
Z1177:Adcy5	UTSW	16	35291544	missense	not run

Posted On

2015-12-18