Mutagenetix > Incidental Mutations

Incidental Mutation 'R1462:Adcy4'

186345

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

MMRRC Submission

039516-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55769057-55784095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55778308 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 441 (E441D)

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

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

AlphaFold

Q91WF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002398
AA Change: E441D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: E441D

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

possibly damaging
Transcript: ENSMUST00000170223
AA Change: E441D

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: E441D

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: ENSMUST00000228933

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,992,946	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,785,481		probably benign	Het
Abca13	T	A	11: 9,483,924		probably benign	Het
Abca9	T	C	11: 110,160,516	D118G	probably benign	Het
AC239677.1	T	A	5: 25,951,625	I119F	possibly damaging	Het
Adamts16	A	G	13: 70,836,134	F137L	probably benign	Het
Adamts3	T	C	5: 89,861,349	I152V	probably benign	Het
Adgra1	T	A	7: 139,875,829	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,784,953		probably benign	Het
Bhlhe22	C	G	3: 18,055,782	S332C	probably damaging	Het
Card19	T	A	13: 49,205,284	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,656,594	L11P	probably damaging	Het
Ccdc129	A	G	6: 55,975,664	H864R	probably damaging	Het
Cdadc1	A	G	14: 59,575,858	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,408,362	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,756,645	K723E	possibly damaging	Het
Cep70	A	G	9: 99,263,720	I147V	probably benign	Het
Cfap58	A	T	19: 47,962,430	H410L	probably damaging	Het
Chat	T	C	14: 32,420,778	K418R	probably damaging	Het
Cic	T	G	7: 25,271,607	D254E	probably damaging	Het
Ckap4	T	C	10: 84,527,567	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,921,819	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,392,188	N418D	probably damaging	Het
Daam1	A	T	12: 71,944,142	I177L	unknown	Het
Dnah1	T	C	14: 31,268,781		probably benign	Het
Ercc5	A	G	1: 44,180,624	T1019A	probably damaging	Het
F13b	T	A	1: 139,507,636	V173E	probably damaging	Het
Fam126a	A	G	5: 23,985,732		probably benign	Het
Fam135b	A	G	15: 71,621,996		probably benign	Het
Fam20a	A	C	11: 109,677,317	F316V	probably damaging	Het
Flrt2	T	C	12: 95,779,338	V150A	probably damaging	Het
Fnta	A	C	8: 25,999,571		probably null	Het
Ghsr	A	G	3: 27,371,876	D27G	probably benign	Het
Glis3	G	T	19: 28,262,518		probably benign	Het
Gm5155	T	G	7: 17,915,591		noncoding transcript	Het
Gtpbp1	A	G	15: 79,707,885	N96D	probably damaging	Het
H1fnt	A	T	15: 98,256,573	W232R	unknown	Het
Ibtk	A	T	9: 85,724,145	I443N	probably damaging	Het
Ifi207	T	C	1: 173,724,947	H968R	probably damaging	Het
Ifit2	A	G	19: 34,573,186	D42G	probably null	Het
Il17rc	A	T	6: 113,478,989	D265V	probably damaging	Het
Ints10	G	A	8: 68,807,644		probably benign	Het
Itfg2	T	C	6: 128,424,728	D29G	probably damaging	Het
Kcng3	A	T	17: 83,631,063	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,442,265	F295L	probably benign	Het
Mrps28	T	A	3: 8,900,124	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,522,758	K37M	possibly damaging	Het
Mug1	C	T	6: 121,882,629	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204		probably benign	Het
Mybl2	T	C	2: 163,072,708	S249P	probably benign	Het
Naip6	A	G	13: 100,300,240	Y592H	possibly damaging	Het
Nrp1	A	G	8: 128,502,798	N919S	probably benign	Het
Nudt9	C	T	5: 104,065,038	Q326*	probably null	Het
Olfr1136	A	T	2: 87,693,376	C169S	probably damaging	Het
Olfr813	A	G	10: 129,857,231	T238A	probably damaging	Het
Olfr827	T	A	10: 130,210,723	I136F	probably benign	Het
Olfr829	T	A	9: 18,857,111	M162K	probably benign	Het
Pcsk4	T	C	10: 80,325,981	E142G	probably damaging	Het
Pde3a	C	A	6: 141,459,834	P471T	probably benign	Het
Pign	A	T	1: 105,585,002	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,582,449	M420K	probably damaging	Het
Prr14	T	A	7: 127,473,988		probably null	Het
Rchy1	T	A	5: 91,957,882	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,681,560		probably benign	Het
Sec23ip	T	G	7: 128,766,138	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,746,614	S47P	probably damaging	Het
Stil	G	A	4: 115,023,964	M568I	probably benign	Het
Syt3	T	A	7: 44,396,010	V558E	probably damaging	Het
Sytl3	A	G	17: 6,706,031		probably benign	Het
Szt2	A	G	4: 118,373,967	V2533A	unknown	Het
Tenm4	A	G	7: 96,704,153	Y384C	probably damaging	Het
Tfam	T	C	10: 71,235,550	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,664,304	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,573,705	Y15*	probably null	Het
Uhrf1	C	T	17: 56,318,035	A526V	probably damaging	Het
Vmn2r67	T	C	7: 85,155,838	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,597,398	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 85,310,352		noncoding transcript	Het
Wdr17	A	T	8: 54,670,328	I479K	probably damaging	Het
Wt1	T	C	2: 105,166,831	V371A	probably damaging	Het
Zfp536	G	T	7: 37,479,310	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,076,479	V560A	probably benign	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
IGL02543:Adcy4	APN	14	55769170	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCATCAGTAGTGACGGACGCATCG -3'
(R):5'- CACAGTCCCTTCAGACAAGTGCAG -3'

Sequencing Primer
(F):5'- GAAGACAGCAATCCTTTTGCG -3'
(R):5'- TCTTGAGGACACAGCTCTGG -3'

Posted On

2014-05-09