Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Adcy7'

689800

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88272403-88329962 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88327708 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1064 (G1064R)

Ref Sequence

ENSEMBL: ENSMUSP00000096122 (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: G1064R

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

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: G1064R

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: ENSMUST00000168545
AA Change: G1064R

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

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: G1064R

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: G1064R

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

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: G1064R

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: G1064R

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

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: G1064R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	G	16: 4,288,823	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,422,128		probably null	Het
Apbb2	A	C	5: 66,312,164	L554W	probably damaging	Het
Arhgef10	C	T	8: 14,974,993	P722S	probably damaging	Het
Capns1	A	C	7: 30,194,085	M1R	probably null	Het
Chst1	C	T	2: 92,613,416	Q78*	probably null	Het
Clec12b	A	G	6: 129,379,617	S195P	possibly damaging	Het
Cog8	C	T	8: 107,052,576	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,625,227	N452D	probably damaging	Het
Defb40	A	T	8: 18,974,978	Y71N	probably benign	Het
Dhx8	G	T	11: 101,738,195	R190L		Het
Disp1	G	A	1: 183,087,235	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,117,638	Y787F	probably benign	Het
Egflam	T	C	15: 7,207,674	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,746,057	Y272N	probably damaging	Het
Fat1	T	C	8: 45,039,901	Y3887H	probably damaging	Het
Fpr3	T	A	17: 17,971,463	I332N	probably benign	Het
Frmd4a	G	T	2: 4,603,954	G878W	probably damaging	Het
Fv1	T	C	4: 147,869,171	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,307,462	A387V	probably benign	Het
Gm34653	A	T	2: 34,839,197	Y336F	probably damaging	Het
Gna11	T	C	10: 81,530,881	T332A		Het
Gpr161	T	A	1: 165,306,188	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,732,511		probably null	Het
Heatr3	A	T	8: 88,150,199	M290L	probably benign	Het
Ifi47	T	G	11: 49,096,015	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,654,963		probably benign	Het
Klhl10	A	G	11: 100,447,136	M234V	possibly damaging	Het
Klra4	A	G	6: 130,062,144	I95T	possibly damaging	Het
Krt84	A	G	15: 101,529,663	F286L	probably damaging	Het
Lrp2	A	G	2: 69,519,916	V704A	probably benign	Het
Lypd6b	A	T	2: 49,947,522	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,140,408	E22G	probably benign	Het
Ncapg	T	C	5: 45,676,641	C340R	probably benign	Het
Ncor2	A	G	5: 125,034,022	L394P		Het
Nek1	T	G	8: 61,028,734	S228A	probably damaging	Het
Olfr1224-ps1	C	T	2: 89,156,375	E267K	possibly damaging	Het
Olfr314	T	A	11: 58,786,733	F166L	possibly damaging	Het
Olfr320	T	C	11: 58,683,896	C8R	probably benign	Het
Olfr329-ps	A	T	11: 58,542,956	C186*	probably null	Het
Olfr657	C	T	7: 104,636,084	R137C	probably benign	Het
Pcdha8	C	A	18: 36,993,232	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,955,695	R143H	probably damaging	Het
Ptprn	A	T	1: 75,252,374	M799K	probably damaging	Het
Rhpn2	A	T	7: 35,384,048		probably benign	Het
Sae1	A	G	7: 16,336,743	F281L	probably benign	Het
Slc25a23	A	G	17: 57,047,309	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,419,163	T222K	probably damaging	Het
Smarca2	T	A	19: 26,682,052	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,005	V897L	probably benign	Het
Spon2	C	A	5: 33,216,710	E110*	probably null	Het
Sstr2	A	G	11: 113,624,351	N32S	probably benign	Het
Stk4	T	C	2: 164,118,065	V415A	probably benign	Het
Tcaf1	T	G	6: 42,677,438	T607P	probably benign	Het
Ush1c	C	A	7: 46,201,056	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,869,895	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,606,304	S81P	probably damaging	Het
Vps45	A	G	3: 96,053,033		probably benign	Het
Wdr6	A	G	9: 108,574,428	V752A	probably benign	Het
Xkr4	G	A	1: 3,216,135	R611*	probably null	Het
Zc3h6	T	G	2: 129,017,176	Y1042*	probably null	Het
Zfp236	A	G	18: 82,620,344	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,216	N583K	probably benign	Het
Zpld1	T	C	16: 55,241,401	S206G	probably benign	Het
Zxdc	T	A	6: 90,372,839	S372R	probably damaging	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
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
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
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'- GACTGACTCTGGGAAAGACAC -3'
(R):5'- GTCAAAGCCATCCTGTAGTGC -3'

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

Posted On

2021-11-19