Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Adcy7'

388551

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88272403-88329962 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88327697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1060 (L1060P)

Ref Sequence

ENSEMBL: ENSMUSP00000132528 (fasta)

Gene Model

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

AlphaFold

P51829

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 damaging
Transcript: ENSMUST00000098521
AA Change: L1060P

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

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: L1060P

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 damaging
Transcript: ENSMUST00000168545
AA Change: L1060P

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

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: L1060P

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 damaging
Transcript: ENSMUST00000169037
AA Change: L1060P

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

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: L1060P

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 damaging
Transcript: ENSMUST00000171456
AA Change: L1060P

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

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: L1060P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	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
Dictatorship	UTSW	8	88311108	missense	possibly damaging	0.80
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
R5253:Adcy7	UTSW	8	88314114	missense	probably damaging	1.00
R5286:Adcy7	UTSW	8	88324859	missense	probably damaging	1.00
R5427:Adcy7	UTSW	8	88326201	critical splice donor site	probably null
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
R8827:Adcy7	UTSW	8	88309699	missense	possibly damaging	0.73
R9076:Adcy7	UTSW	8	88327708	missense	probably damaging	1.00
R9228:Adcy7	UTSW	8	88318047	critical splice donor site	probably null
R9276:Adcy7	UTSW	8	88325386	missense	probably damaging	1.00
R9465:Adcy7	UTSW	8	88320150	missense	probably benign	0.42
R9515:Adcy7	UTSW	8	88311018	missense	possibly damaging	0.90
R9536:Adcy7	UTSW	8	88326398	missense	possibly damaging	0.78
R9564:Adcy7	UTSW	8	88326425	frame shift	probably null
R9565:Adcy7	UTSW	8	88326425	frame shift	probably null
R9659:Adcy7	UTSW	8	88319105	missense	probably benign	0.00
R9735:Adcy7	UTSW	8	88310634	missense	probably benign	0.16
R9788:Adcy7	UTSW	8	88319105	missense	probably benign	0.00
X0067:Adcy7	UTSW	8	88324600	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GACTGACTCTGGGAAAGACACC -3'
(R):5'- TCAAAGCCATCCTGTAGTGC -3'

Sequencing Primer
(F):5'- CCCCAGAGAAGGTATCCTGC -3'
(R):5'- CAACAGACATGGGGCTACATTCTTG -3'

Posted On

2016-06-06