Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Adcy4'

298301

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

55769057-55784095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55769170 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1069 (T1069A)

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000057569] [ENSMUST00000170223]

AlphaFold

Q91WF3

Predicted Effect

probably benign
Transcript: ENSMUST00000002398
AA Change: T1069A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: T1069A

Domain	Start	End	E-Value	Type
low complexity region	28	48	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	2.4e-35	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057569

SMART Domains

Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	28	196	7.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	31	249	2e-8	PFAM
Pfam:7tm_1	37	285	1.3e-42	PFAM
Pfam:Serpentine_r_xa	54	201	2.8e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170223
AA Change: T1069A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: T1069A

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	61	80	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	172	194	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	1.6e-24	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228933

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 family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,918,095	A193S	probably damaging	Het
Arg2	A	T	12: 79,150,759	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578	M91V	probably benign	Het
Cep85	T	C	4: 134,156,323	H85R	possibly damaging	Het
Chfr	A	G	5: 110,143,547		probably null	Het
Cog2	A	G	8: 124,529,959	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947		probably benign	Het
Kdr	A	G	5: 75,964,947		probably benign	Het
Klhl3	T	C	13: 58,018,871	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612		probably benign	Het
Large1	T	A	8: 73,048,414	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193		probably benign	Het
Olfr1408	T	G	1: 173,130,334	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503	C246S	possibly damaging	Het
Olfr8	C	A	10: 78,955,939	H245N	probably damaging	Het
P3h1	T	C	4: 119,237,856		probably benign	Het
Pcp4l1	C	T	1: 171,175,564		probably benign	Het
Plekhm2	C	T	4: 141,642,019	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,528,689	I655T	possibly damaging	Het
Syne1	T	C	10: 5,043,618	K524R	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,239,171	A135V	probably benign	Het
Tenm3	A	C	8: 48,298,956	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896		probably benign	Het
Zfp668	A	T	7: 127,868,322	C27*	probably null	Het

Other mutations in Adcy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Adcy4	APN	14	55773663	splice site	probably null
IGL02406:Adcy4	APN	14	55770047	missense	possibly damaging	0.45
IGL02503:Adcy4	APN	14	55771505	missense	probably damaging	1.00
IGL02616:Adcy4	APN	14	55783514	splice site	probably null
IGL03002:Adcy4	APN	14	55773556	missense	probably benign	0.31
IGL03026:Adcy4	APN	14	55778010	missense	probably damaging	1.00
IGL03190:Adcy4	APN	14	55779053	missense	probably damaging	1.00
IGL03247:Adcy4	APN	14	55770096	missense	probably damaging	1.00
stressed	UTSW	14	55779099	splice site	probably null
IGL03098:Adcy4	UTSW	14	55781581	missense	probably null	0.82
R0098:Adcy4	UTSW	14	55769827	missense	possibly damaging	0.78
R0102:Adcy4	UTSW	14	55771533	missense	probably benign	0.29
R0396:Adcy4	UTSW	14	55772288	missense	probably benign	0.00
R0482:Adcy4	UTSW	14	55774572	critical splice acceptor site	probably null
R0634:Adcy4	UTSW	14	55781597	missense	probably benign
R0691:Adcy4	UTSW	14	55772647	splice site	probably benign
R0704:Adcy4	UTSW	14	55772756	missense	probably benign
R0815:Adcy4	UTSW	14	55783599	missense	probably damaging	1.00
R0863:Adcy4	UTSW	14	55783599	missense	probably damaging	1.00
R1446:Adcy4	UTSW	14	55770023	critical splice donor site	probably null
R1462:Adcy4	UTSW	14	55778308	missense	possibly damaging	0.78
R1462:Adcy4	UTSW	14	55778308	missense	possibly damaging	0.78
R1463:Adcy4	UTSW	14	55778939	missense	probably damaging	1.00
R1624:Adcy4	UTSW	14	55781927	missense	possibly damaging	0.68
R1799:Adcy4	UTSW	14	55771472	missense	probably benign	0.01
R1878:Adcy4	UTSW	14	55769905	missense	probably damaging	0.96
R2007:Adcy4	UTSW	14	55778313	missense	possibly damaging	0.45
R2156:Adcy4	UTSW	14	55769170	missense	probably benign	0.09
R2425:Adcy4	UTSW	14	55778017	missense	probably damaging	0.99
R2517:Adcy4	UTSW	14	55781946	missense	probably damaging	1.00
R3882:Adcy4	UTSW	14	55774546	missense	probably benign	0.27
R4021:Adcy4	UTSW	14	55775178	splice site	probably null
R4022:Adcy4	UTSW	14	55775178	splice site	probably null
R4411:Adcy4	UTSW	14	55769443	missense	probably damaging	1.00
R4530:Adcy4	UTSW	14	55779028	missense	probably damaging	1.00
R4560:Adcy4	UTSW	14	55778950	splice site	probably null
R4704:Adcy4	UTSW	14	55775025	missense	possibly damaging	0.91
R4780:Adcy4	UTSW	14	55775036	missense	probably benign	0.07
R4860:Adcy4	UTSW	14	55781927	missense	possibly damaging	0.68
R4860:Adcy4	UTSW	14	55781927	missense	possibly damaging	0.68
R4868:Adcy4	UTSW	14	55773722	missense	probably benign
R4890:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4920:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4948:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4952:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4953:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4987:Adcy4	UTSW	14	55773477	missense	probably benign	0.01
R4991:Adcy4	UTSW	14	55773465	missense	probably benign	0.03
R5080:Adcy4	UTSW	14	55772375	missense	probably damaging	0.98
R5620:Adcy4	UTSW	14	55772367	nonsense	probably null
R5652:Adcy4	UTSW	14	55773443	missense	probably benign
R5726:Adcy4	UTSW	14	55783661	missense	probably damaging	1.00
R5910:Adcy4	UTSW	14	55779013	missense	probably damaging	1.00
R5958:Adcy4	UTSW	14	55779099	splice site	probably null
R6280:Adcy4	UTSW	14	55779043	missense	probably damaging	1.00
R6318:Adcy4	UTSW	14	55769224	missense	probably damaging	1.00
R6598:Adcy4	UTSW	14	55770045	missense	probably benign	0.03
R6947:Adcy4	UTSW	14	55778391	missense	possibly damaging	0.92
R7012:Adcy4	UTSW	14	55779919	missense	possibly damaging	0.95
R7147:Adcy4	UTSW	14	55779725	missense	probably damaging	1.00
R7386:Adcy4	UTSW	14	55778327	missense	probably damaging	1.00
R7414:Adcy4	UTSW	14	55781633	missense	probably benign	0.15
R7431:Adcy4	UTSW	14	55772672	missense	probably benign	0.01
R7490:Adcy4	UTSW	14	55770433	missense	possibly damaging	0.66
R7552:Adcy4	UTSW	14	55773465	missense	probably benign	0.00
R7672:Adcy4	UTSW	14	55780905	missense	probably benign	0.14
R8003:Adcy4	UTSW	14	55781635	missense	probably benign	0.00
R8042:Adcy4	UTSW	14	55775239	missense	probably benign	0.01
R8100:Adcy4	UTSW	14	55772265	nonsense	probably null
R8343:Adcy4	UTSW	14	55775240	missense	probably benign	0.02
R8801:Adcy4	UTSW	14	55771995	missense	probably benign	0.05
R8811:Adcy4	UTSW	14	55772764	missense	probably benign
R8993:Adcy4	UTSW	14	55771378	missense	probably null	1.00
R8993:Adcy4	UTSW	14	55778699	missense	probably damaging	1.00
R9026:Adcy4	UTSW	14	55778969	missense	probably damaging	1.00
X0025:Adcy4	UTSW	14	55770391	missense	probably damaging	1.00
Z1088:Adcy4	UTSW	14	55780956	missense	probably benign	0.06

Posted On

2015-04-16