Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Adcy7'

652237

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88272403-88329962 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88308735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000096122 (fasta)

Gene Model

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

AlphaFold

P51829

Predicted Effect

probably benign
Transcript: ENSMUST00000098521
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: V89A

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 benign
Transcript: ENSMUST00000168545
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: V89A

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 benign
Transcript: ENSMUST00000169037
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: V89A

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 benign
Transcript: ENSMUST00000171456
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: V89A

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
AW551984	T	C	9: 39,597,653	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	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
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'- TCTGGGTAGACTTCCTGGAG -3'
(R):5'- ATTCCAGCGCCATAGTCTGC -3'

Sequencing Primer
(F):5'- TAGACTTCCTGGAGGAGGGG -3'
(R):5'- GCATTGGCCCACTTCCATGAG -3'

Posted On

2020-10-20