Mutagenetix > Incidental Mutations

Incidental Mutation 'R5427:Adcy7'

426963

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

042993-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

R5427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88272403-88329962 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 88326201 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034085] [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]

Predicted Effect

probably benign
Transcript: ENSMUST00000034085

SMART Domains

Protein: ENSMUSP00000034085
Gene: ENSMUSG00000031660

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
low complexity region	76	96	N/A	INTRINSIC
BROMO	129	237	9.72e-38	SMART
Pfam:DUF3512	287	534	2.4e-93	PFAM
coiled coil region	535	564	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098521

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131748

Predicted Effect

probably null
Transcript: ENSMUST00000168545

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000169037

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000171456

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659

Domain	Start	End	E-Value	Type
low complexity region	91	104	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	1.2e-35	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210688

Meta Mutation Damage Score

0.9586

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	A	9: 92,352,596	C128Y	probably benign	Het
Aaas	A	G	15: 102,339,950	V277A	possibly damaging	Het
Adgrg5	A	T	8: 94,935,102	D157V	probably benign	Het
Akap13	A	G	7: 75,728,869	N2090S	possibly damaging	Het
Alpi	T	C	1: 87,101,354	N33D	probably benign	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Anp32a	A	G	9: 62,377,316		probably benign	Het
Atg4b	G	C	1: 93,775,206	K86N	probably damaging	Het
Bbx	T	C	16: 50,280,497	T12A	probably benign	Het
Catsperg2	T	C	7: 29,714,850	T377A	possibly damaging	Het
Ccdc158	T	C	5: 92,648,962	Q505R	probably damaging	Het
Cep135	T	A	5: 76,638,202	S1051T	probably benign	Het
Cryab	A	G	9: 50,756,293	D109G	probably damaging	Het
Crym	A	C	7: 120,199,222		probably benign	Het
Csf2rb2	T	A	15: 78,288,911	S250C	probably damaging	Het
Diaph1	A	T	18: 37,890,595	V730E	unknown	Het
Eci3	G	T	13: 34,959,948	L65M	possibly damaging	Het
Erg28	T	C	12: 85,819,567	N46D	probably damaging	Het
Fam89b	A	G	19: 5,728,791	S127P	probably benign	Het
Fign	A	G	2: 63,978,998	Y643H	probably damaging	Het
Galk2	T	C	2: 125,946,821	V265A	probably benign	Het
Gclm	T	C	3: 122,266,327	V252A	probably damaging	Het
Git2	A	G	5: 114,730,328	S584P	possibly damaging	Het
Gm38394	A	G	1: 133,657,595	V668A	possibly damaging	Het
Iqcf3	T	C	9: 106,543,860		probably null	Het
Kcnk3	A	G	5: 30,622,295	T230A	possibly damaging	Het
Myh10	T	C	11: 68,802,931	L1486P	probably damaging	Het
Myom2	C	A	8: 15,113,764	A1006E	probably benign	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nampt	A	T	12: 32,834,915	H111L	probably benign	Het
Nid1	A	G	13: 13,483,683	Y671C	probably damaging	Het
Npy5r	G	A	8: 66,681,020	R374C	probably damaging	Het
Olfr1116	A	T	2: 87,269,514	K244N	probably benign	Het
Olfr1487	A	T	19: 13,619,350	S20C	probably benign	Het
Palld	C	T	8: 61,550,072	C720Y	probably benign	Het
Pcsk6	C	T	7: 66,033,899	T606M	probably benign	Het
Pfas	T	C	11: 69,001,153	I176M	possibly damaging	Het
Pi4kb	A	G	3: 94,994,207	D395G	probably benign	Het
Plod3	A	T	5: 136,991,788	Y547F	probably damaging	Het
Pnpo	T	C	11: 96,943,807	Y21C	probably benign	Het
Rgs1	A	T	1: 144,246,280	C118*	probably null	Het
Rrnad1	T	C	3: 87,924,332		probably benign	Het
Slc22a27	A	G	19: 7,879,388		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sppl2c	G	A	11: 104,187,867	V498I	probably benign	Het
Stim2	A	T	5: 54,110,939	I448F	possibly damaging	Het
Sulf1	A	T	1: 12,796,912	T107S	possibly damaging	Het
Tenm3	A	G	8: 48,236,564	V1996A	probably damaging	Het
Timm23	G	A	14: 32,189,146	T171I	possibly damaging	Het
Tssk2	A	G	16: 17,898,865	D44G	probably damaging	Het
Vmn2r28	A	T	7: 5,486,377	Y488N	probably damaging	Het
Zbtb48	A	G	4: 152,020,651	F518S	probably damaging	Het
Zfp709	A	G	8: 71,889,132	E135G	probably benign	Het
Zfp788	G	A	7: 41,649,652	V571I	possibly damaging	Het
Zfp963	A	G	8: 69,743,456	S116P	probably benign	Het

Other mutations in Adcy7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Adcy7	APN	8	88318790	splice site	probably benign
IGL01434:Adcy7	APN	8	88324844	missense	probably damaging	1.00
IGL01784:Adcy7	APN	8	88314123	missense	probably damaging	1.00
IGL02506:Adcy7	APN	8	88317943	missense	probably damaging	1.00
IGL03184:Adcy7	APN	8	88308643	missense	probably benign	0.00
IGL03406:Adcy7	APN	8	88318319	nonsense	probably null
Churchill	UTSW	8	88315759	missense	probably damaging	1.00
democracy	UTSW	8	88315756	missense	probably damaging	1.00
periphery	UTSW	8	88317937	missense	probably benign	0.01
republic	UTSW	8	88314137	missense	probably damaging	1.00
tyranny	UTSW	8	88312228	missense	possibly damaging	0.76
PIT4283001:Adcy7	UTSW	8	88315492	missense	probably damaging	1.00
PIT4453001:Adcy7	UTSW	8	88323636	missense	probably benign	0.07
R0265:Adcy7	UTSW	8	88324763	missense	probably damaging	0.96
R0963:Adcy7	UTSW	8	88312265	missense	probably damaging	1.00
R0990:Adcy7	UTSW	8	88325452	missense	possibly damaging	0.57
R1055:Adcy7	UTSW	8	88318057	splice site	probably benign
R1494:Adcy7	UTSW	8	88320207	missense	probably benign	0.00
R1764:Adcy7	UTSW	8	88308840	missense	probably benign	0.00
R2062:Adcy7	UTSW	8	88312274	missense	probably damaging	1.00
R2090:Adcy7	UTSW	8	88315857	missense	probably damaging	0.98
R2201:Adcy7	UTSW	8	88317978	missense	probably damaging	1.00
R2413:Adcy7	UTSW	8	88309818	missense	probably benign	0.20
R2849:Adcy7	UTSW	8	88327393	missense	probably benign	0.38
R4020:Adcy7	UTSW	8	88308734	missense	probably benign	0.00
R4086:Adcy7	UTSW	8	88315786	missense	probably benign	0.01
R4679:Adcy7	UTSW	8	88317937	missense	probably benign	0.01
R5069:Adcy7	UTSW	8	88327697	missense	probably damaging	1.00
R5253:Adcy7	UTSW	8	88314114	missense	probably damaging	1.00
R5286:Adcy7	UTSW	8	88324859	missense	probably damaging	1.00
R5457:Adcy7	UTSW	8	88311021	missense	probably damaging	1.00
R5689:Adcy7	UTSW	8	88324784	missense	probably benign	0.00
R5907:Adcy7	UTSW	8	88312228	missense	possibly damaging	0.76
R5909:Adcy7	UTSW	8	88325496	missense	probably damaging	1.00
R5997:Adcy7	UTSW	8	88326392	missense	probably benign	0.41
R6038:Adcy7	UTSW	8	88322980	missense	probably benign	0.01
R6038:Adcy7	UTSW	8	88322980	missense	probably benign	0.01
R6133:Adcy7	UTSW	8	88325439	missense	possibly damaging	0.84
R6190:Adcy7	UTSW	8	88325730	splice site	probably null
R6213:Adcy7	UTSW	8	88314137	missense	probably damaging	1.00
R6287:Adcy7	UTSW	8	88311108	missense	possibly damaging	0.80
R6502:Adcy7	UTSW	8	88325479	missense	probably damaging	1.00
R6989:Adcy7	UTSW	8	88308786	missense	probably benign
R7042:Adcy7	UTSW	8	88315750	missense	probably damaging	0.99
R7829:Adcy7	UTSW	8	88315759	missense	probably damaging	1.00
R8067:Adcy7	UTSW	8	88311069	missense	probably damaging	1.00
R8113:Adcy7	UTSW	8	88321803	missense	probably damaging	1.00
R8118:Adcy7	UTSW	8	88315756	missense	probably damaging	1.00
R8190:Adcy7	UTSW	8	88311038	missense	possibly damaging	0.49
R8402:Adcy7	UTSW	8	88308735	missense	probably benign	0.30
R8421:Adcy7	UTSW	8	88322184	missense	probably benign	0.06
R8549:Adcy7	UTSW	8	88326190	missense	probably benign
X0067:Adcy7	UTSW	8	88324600	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATGAACTCGGATGGACAAG -3'
(R):5'- ATAACCTACTCCATGCAGCCTTG -3'

Sequencing Primer
(F):5'- CGTGCATGCCATGTGTCTGTAC -3'
(R):5'- ACTCCATGCAGCCTTGACTGAG -3'

Posted On

2016-09-01