Mutagenetix > Incidental Mutations

Incidental Mutation 'R6280:Adcy4'

507929

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6280 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

55769057-55784095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55779043 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 317 (I317N)

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000170223] [ENSMUST00000227031]

Predicted Effect

probably damaging
Transcript: ENSMUST00000002398
AA Change: I317N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: I317N

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 damaging
Transcript: ENSMUST00000170223
AA Change: I317N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: I317N

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

probably benign
Transcript: ENSMUST00000227031

Meta Mutation Damage Score

0.8506

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,057	S534P	probably damaging	Het
4930452B06Rik	T	G	14: 8,473,414		probably null	Het
Abca12	C	T	1: 71,272,460	D1930N	probably benign	Het
Adam8	A	G	7: 139,984,807	L667S	probably damaging	Het
Agpat3	A	G	10: 78,285,038	F102S	probably damaging	Het
Apbb2	A	T	5: 66,364,982	W443R	probably damaging	Het
BC049715	T	A	6: 136,840,231	Y156*	probably null	Het
Bpifc	C	T	10: 85,977,712	V323I	probably benign	Het
Camp	T	G	9: 109,847,509	I149L	probably benign	Het
Cnih1	A	G	14: 46,788,177		probably null	Het
Col18a1	A	T	10: 77,112,489		probably benign	Het
Dsg4	A	T	18: 20,466,667	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084	V442I	probably benign	Het
Fam83g	G	T	11: 61,703,182	S514I	probably benign	Het
Fam92b	A	G	8: 120,172,119	I94T	possibly damaging	Het
Fbxo7	A	G	10: 86,029,105	N93D	probably benign	Het
Fgf20	G	T	8: 40,281,112	S76*	probably null	Het
Foxi1	A	G	11: 34,207,972	F18L	probably damaging	Het
Fxr1	G	A	3: 34,046,252		probably benign	Het
Gon4l	T	A	3: 88,890,888	L800H	probably damaging	Het
Gpn3	T	A	5: 122,373,959	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072	M743V	probably damaging	Het
Hira	A	G	16: 18,910,707	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,753,305		probably null	Het
Hsf2	T	G	10: 57,511,495	S370A	probably benign	Het
Htt	T	A	5: 34,870,759	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,620,134	R27S	possibly damaging	Het
Il17rb	G	A	14: 30,002,971	A186V	probably benign	Het
Irak4	G	T	15: 94,551,810	E57*	probably null	Het
Kcnh2	T	A	5: 24,331,923	H221L	probably benign	Het
Kdm2b	T	C	5: 122,878,624	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,174,869	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,499,516	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,865,475	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,393,280	N52S	possibly damaging	Het
Lhfp	T	C	3: 53,260,514	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,232,248		probably benign	Het
Lrig3	T	C	10: 126,010,979	I872T	probably benign	Het
Lrit3	T	C	3: 129,788,763	E525G	probably damaging	Het
Lrp1	T	C	10: 127,589,584	T726A	probably benign	Het
Mep1a	A	T	17: 43,502,392	N46K	probably damaging	Het
Muc16	C	A	9: 18,579,317		probably null	Het
N4bp1	A	C	8: 86,853,166	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,415,946	D26G	probably benign	Het
Neu4	G	A	1: 94,025,151	S414N	probably damaging	Het
Nudt9	A	G	5: 104,065,069	D336G	probably benign	Het
Obscn	C	A	11: 59,063,683	G3691V	possibly damaging	Het
Olfr1102	A	G	2: 87,002,020	N17S	probably damaging	Het
Olfr1263	A	C	2: 90,015,049	I40L	possibly damaging	Het
Pdgfd	T	A	9: 6,288,627	S94T	probably benign	Het
Picalm	A	G	7: 90,177,562	H290R	probably benign	Het
Pou2f3	A	T	9: 43,139,339	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,139,340	L242M	probably damaging	Het
Prkd3	C	T	17: 78,981,931	G187D	probably damaging	Het
Pwp1	A	G	10: 85,874,462	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,342,209	L1626P	probably damaging	Het
Rin2	A	G	2: 145,861,019	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,542,797	T71A	probably benign	Het
Senp7	T	C	16: 56,162,375	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,337,358	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc17a2	A	G	13: 23,822,394	S468G	probably benign	Het
Slc4a10	A	G	2: 62,281,966	N697S	probably benign	Het
Spint1	T	A	2: 119,245,278	V194E	possibly damaging	Het
Sptlc2	A	T	12: 87,388,131	M14K	probably benign	Het
Stard9	A	G	2: 120,701,127	K2622E	probably benign	Het
Tbc1d5	T	C	17: 50,782,310	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,651,883	C261S	probably benign	Het
Tmem150b	A	T	7: 4,724,374	I44N	probably benign	Het
Ttn	A	G	2: 76,778,158	L17807P	probably damaging	Het
Vcan	G	A	13: 89,725,373	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,293,425	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,253	S761G	probably benign	Het
Wdr11	A	T	7: 129,599,106	K34*	probably null	Het
Zfp120	A	T	2: 150,118,044	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253	P740A	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
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
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
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'- TAGTGCTGCCATGATTCTCC -3'
(R):5'- GACCTCAGTCCCATATCAAGGG -3'

Sequencing Primer
(F):5'- TCTTCTCCAGGAGGACTGC -3'
(R):5'- GGACGCCATAGATCTGACCTAG -3'

Posted On

2018-03-15