Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00235:Adcy5'

2103

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: 0.248) question?

Stock #

IGL00235

Quality Score

Status

Chromosome

Chromosomal Location

35154877-35305738 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35253213 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 454 (E454K)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114913
AA Change: E454K

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: E454K

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,771,483	H1039R	probably benign	Het
Akap3	T	C	6: 126,865,731	F438L	probably benign	Het
Casp1	A	T	9: 5,299,872		probably benign	Het
Cnih2	G	T	19: 5,098,273		probably benign	Het
Dchs1	G	A	7: 105,758,743	R1961C	probably damaging	Het
Defb21	G	A	2: 152,574,792	V63I	probably benign	Het
Elovl6	T	A	3: 129,628,376	N105K	probably benign	Het
Fam83e	A	T	7: 45,727,069	E402V	probably benign	Het
Fat4	T	A	3: 38,982,249	I3350N	probably damaging	Het
Gmpr2	C	A	14: 55,675,714	F149L	probably damaging	Het
Gucy1b2	C	A	14: 62,406,245	V636F	probably damaging	Het
Hapln1	A	C	13: 89,608,142	Y355S	probably benign	Het
Hoxb13	G	T	11: 96,194,642	C67F	possibly damaging	Het
Hspa12b	T	A	2: 131,134,120	I14N	probably damaging	Het
Ighe	C	A	12: 113,271,515	V342L	unknown	Het
Ighv1-49	A	T	12: 115,055,456	S21T	possibly damaging	Het
Klhl17	A	G	4: 156,233,862	I101T	possibly damaging	Het
Lrrd1	T	G	5: 3,850,573	L293V	possibly damaging	Het
Lyrm4	T	A	13: 36,092,882	K44M	probably damaging	Het
Med15	G	T	16: 17,680,726	P101T	probably damaging	Het
Mgat4c	A	T	10: 102,388,720	H265L	probably damaging	Het
Mme	T	A	3: 63,340,044	I250N	possibly damaging	Het
Mxra8	C	A	4: 155,842,563	T318N	probably benign	Het
Nlrp9b	G	A	7: 20,023,278	V147I	probably benign	Het
Npepl1	G	T	2: 174,120,548	V336L	probably damaging	Het
Olfr382	G	A	11: 73,516,410	S263L	possibly damaging	Het
Pank2	T	C	2: 131,274,169	I169T	possibly damaging	Het
Pkhd1l1	A	T	15: 44,556,019	H2960L	probably damaging	Het
Pnpla8	A	G	12: 44,283,069	R135G	probably benign	Het
Prdm8	T	G	5: 98,183,343	V18G	probably damaging	Het
Rhox7b	G	T	X: 37,889,662	P231T	probably damaging	Het
Rnf121	A	T	7: 102,065,115		probably benign	Het
Skap1	T	C	11: 96,489,910	F45S	probably damaging	Het
Slc4a5	T	A	6: 83,285,899	L791Q	probably damaging	Het
Ssh1	T	C	5: 113,942,576	D931G	probably damaging	Het
Tmem8	T	C	17: 26,117,519	S204P	probably damaging	Het
Txndc16	T	C	14: 45,162,350	Y382C	probably damaging	Het
Uhrf2	T	C	19: 30,073,946	F307L	probably benign	Het
Zfhx2	C	A	14: 55,063,257	A2346S	probably benign	Het

Other mutations in Adcy5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
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
R7917:Adcy5	UTSW	16	35157200	missense	probably benign	0.03
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

2011-12-09