Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Adcy7'

631345

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

067547-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.446) question?

Stock #

R8118 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

88272403-88329962 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88315756 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 417 (H417R)

Ref Sequence

ENSEMBL: ENSMUSP00000096122 (fasta)

Gene Model

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

AlphaFold

P51829

Predicted Effect

probably damaging
Transcript: ENSMUST00000098521
AA Change: H417R

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

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: H417R

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: H417R

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

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: H417R

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: H417R

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

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: H417R

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: H417R

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

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: H417R

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

Meta Mutation Damage Score

0.9627

Coding Region Coverage

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,795,933	D792G	probably damaging	Het
Agr2	A	G	12: 35,996,107	D79G	probably benign	Het
Ankle1	T	C	8: 71,407,635	S286P	probably benign	Het
Arhgef11	T	C	3: 87,735,857	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,712,773	M421T	probably damaging	Het
Cdk17	C	A	10: 93,216,390	Q111K	possibly damaging	Het
Cobl	A	G	11: 12,254,834	S623P	probably benign	Het
Dgka	C	T	10: 128,722,449		probably null	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,582,801	I267V	probably benign	Het
Exoc4	T	C	6: 33,971,918	Y899H	probably damaging	Het
Fat3	A	G	9: 15,960,104	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,879,515	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628	V207F	probably benign	Het
Gm7030	C	T	17: 36,127,690	V270M	probably damaging	Het
Gpr61	A	G	3: 108,150,572	S258P	probably damaging	Het
Hectd4	C	T	5: 121,286,376	H700Y	probably benign	Het
Hs3st2	C	T	7: 121,397,428	T154I	probably benign	Het
Inf2	A	T	12: 112,601,437	H167L	probably damaging	Het
Ints3	C	T	3: 90,400,299		probably null	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Itgal	C	A	7: 127,311,245	Q509K	probably benign	Het
Klhl20	A	T	1: 161,098,401		probably null	Het
Krtap4-13	C	T	11: 99,809,398	C145Y	unknown	Het
Large1	A	G	8: 73,131,944	S99P	probably benign	Het
Lexm	T	A	4: 106,613,398	R192S	possibly damaging	Het
Lrba	A	T	3: 86,354,226	I1496L	probably benign	Het
Map2	A	T	1: 66,425,391	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,673,417	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,916,374	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,137,248	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,219,090	I253V	probably benign	Het
Mtfp1	A	G	11: 4,093,910	S107P	probably damaging	Het
Nebl	T	A	2: 17,379,820	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,205,159	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,965,631	I20L	probably benign	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1487	T	A	19: 13,619,745	N151K	probably damaging	Het
Olfr304	A	T	7: 86,385,768	C297*	probably null	Het
Olfr51	A	G	11: 51,007,500	H176R	probably damaging	Het
Olfr720	A	G	14: 14,175,863	I73T	probably damaging	Het
Olfr725	T	C	14: 50,035,151	D84G	probably benign	Het
Olfr998	T	A	2: 85,590,988	Y149*	probably null	Het
Palm3	A	G	8: 84,029,809	E650G	probably damaging	Het
Prps1l1	C	A	12: 34,985,341	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,053,121	V57F	probably damaging	Het
Scaf8	T	A	17: 3,164,183	V171D	unknown	Het
Sf3a2	T	C	10: 80,803,640	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,411,984	L67R	probably damaging	Het
Shank2	A	T	7: 144,409,875	I407L	probably benign	Het
Skint6	T	C	4: 112,865,675	T902A	possibly damaging	Het
Skint6	A	C	4: 113,156,494	S353R	possibly damaging	Het
Srrm2	T	A	17: 23,808,083	I87N	unknown	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Svs3b	A	G	2: 164,256,006	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,843,002	F412L	probably benign	Het
Tex29	A	T	8: 11,854,263	E116D	unknown	Het
Tmem204	T	C	17: 25,080,338	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,044,762	R308C	probably benign	Het
Ttn	T	A	2: 76,747,164	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,161,478	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,423,771	N134S	probably damaging	Het
Usp31	T	C	7: 121,677,262	T351A	probably damaging	Het
Usp33	T	C	3: 152,360,359	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,396,470	I471N	probably damaging	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Wnk2	A	G	13: 49,090,983	V459A	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
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'- TGTGGTCCCATGATGTGTCC -3'
(R):5'- CACAGTCTTGAGGGTCAATGAC -3'

Sequencing Primer
(F):5'- ATGATGTGTCCCTGGCCAAC -3'
(R):5'- GTCAATGACCTCAAGTTGGGACC -3'

Posted On

2020-06-30