Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Adcy8'

683278

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

068807-MU

Accession Numbers

Genbank: NM_009623; MGI: 1341110

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64697084-64922296 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 64699135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 1250 (*1250Q)

Ref Sequence

ENSEMBL: ENSMUSP00000023007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000228014]

AlphaFold

P97490

Predicted Effect

probably null
Transcript: ENSMUST00000023007
AA Change: *1250Q

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: *1250Q

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	111	123	N/A	INTRINSIC
low complexity region	185	201	N/A	INTRINSIC
low complexity region	255	271	N/A	INTRINSIC
CYCc	363	565	3.16e-63	SMART
Pfam:DUF1053	615	710	1.3e-30	PFAM
transmembrane domain	741	759	N/A	INTRINSIC
transmembrane domain	780	802	N/A	INTRINSIC
transmembrane domain	833	852	N/A	INTRINSIC
transmembrane domain	857	879	N/A	INTRINSIC
low complexity region	900	911	N/A	INTRINSIC
CYCc	940	1155	2.19e-48	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000228014
AA Change: *1220Q

Meta Mutation Damage Score

0.8465

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. The enzymatic activity is under the control of several hormones, and different polypeptides participate in the transduction of the signal from the receptor to the catalytic moiety. Stimulatory or inhibitory receptors (Rs and Ri) interact with G proteins (Gs and Gi) that exhibit GTPase activity and they modulate the activity of the catalytic subunit of the adenylyl cyclase [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in reduced body size (in female animals only), reduced anxiety, and impaired long term depression (LTD). [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	G	18: 57,592,067	L123V	possibly damaging	Het
1810022K09Rik	C	T	3: 14,607,245	V97I	probably benign	Het
2410089E03Rik	T	C	15: 8,203,793	W1201R	probably damaging	Het
4930404N11Rik	T	C	10: 81,364,015	D129G	unknown	Het
Adamts16	A	T	13: 70,738,840	I975N	probably benign	Het
Anapc1	A	T	2: 128,664,032	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,539,358		probably benign	Het
Ankub1	A	T	3: 57,665,511	S263R	possibly damaging	Het
Aoah	A	G	13: 20,840,155	I94V	probably benign	Het
Aox2	A	G	1: 58,289,954	D186G	probably benign	Het
Arap2	A	T	5: 62,698,325	C589*	probably null	Het
Armt1	T	C	10: 4,439,550	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,292,772	Y185F	probably benign	Het
BC067074	A	G	13: 113,319,759	T780A		Het
Cacna2d4	A	G	6: 119,241,181	D159G	probably damaging	Het
Camta2	C	A	11: 70,670,358	R1184L	probably benign	Het
Ccr7	G	A	11: 99,145,823	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,045	T323A	possibly damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Clec2e	C	A	6: 129,093,411	G216*	probably null	Het
Col25a1	T	C	3: 130,475,626	S176P	unknown	Het
Col4a3	A	C	1: 82,715,331	I1446L	probably benign	Het
Cse1l	A	G	2: 166,943,080	E823G	probably damaging	Het
Dchs2	A	G	3: 83,354,456	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,339,542	E77G	probably damaging	Het
Dnah6	T	C	6: 73,144,751	D1416G	probably benign	Het
Dpyd	T	C	3: 119,314,933		probably null	Het
Dst	A	G	1: 34,228,855	D3112G	probably damaging	Het
Dusp13	A	C	14: 21,734,906	N128K	probably benign	Het
Emilin2	T	G	17: 71,275,084	K216Q	probably benign	Het
Enam	T	C	5: 88,494,088	W254R	possibly damaging	Het
Esrrg	A	C	1: 188,198,750	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,650,064	L373P		Het
Gm21060	C	A	19: 61,296,928	V48L	possibly damaging	Het
Gm30302	A	T	13: 49,788,239	D80E	probably benign	Het
Gtpbp3	T	C	8: 71,491,162	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,148,725	D171G	probably damaging	Het
Hrg	A	T	16: 22,959,218	T242S	probably benign	Het
Inf2	G	T	12: 112,607,515	C751F	unknown	Het
Krt13	A	T	11: 100,119,438	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,253,294	S7P	probably benign	Het
Matn2	A	G	15: 34,433,050	I867V	probably benign	Het
Mdh2	C	T	5: 135,790,165	A325V	possibly damaging	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,772,943	R64*	probably null	Het
Nav1	T	C	1: 135,584,725	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321		probably null	Het
Olfr141	C	A	2: 86,806,856	V48F	probably benign	Het
Olfr298	A	G	7: 86,489,279	S91P	probably damaging	Het
Olfr834	C	A	9: 18,988,678	S230*	probably null	Het
Olfr884	T	A	9: 38,047,543	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,927,642	S617R	probably benign	Het
Pde10a	C	A	17: 8,924,239	Q6K	probably benign	Het
Pigq	A	C	17: 25,932,167	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,586,437	D3865E	probably damaging	Het
Prag1	C	T	8: 36,099,590		probably benign	Het
Rint1	A	G	5: 23,811,730	T498A	probably benign	Het
Rnf213	T	A	11: 119,461,930	F3921I		Het
Rpp14	A	G	14: 8,088,768	S95G	probably benign	Het
Ryk	T	G	9: 102,861,921	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,974,571	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,969,576	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,806,694	I609K	probably damaging	Het
Slc44a4	T	C	17: 34,921,562	F244L	probably damaging	Het
Susd5	T	C	9: 114,082,504	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,959,395		probably null	Het
Tbcd	G	C	11: 121,496,853		probably benign	Het
Tmc1	A	T	19: 20,900,851	N93K	probably benign	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Tmem131l	A	T	3: 83,928,732	V690D	probably damaging	Het
Trim8	A	G	19: 46,515,464	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,928,495	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,802,942	N443K	possibly damaging	Het
Zan	T	A	5: 137,389,316	I4878F	unknown	Het
Zfand4	A	G	6: 116,314,080	D344G	probably benign	Het

Other mutations in Adcy8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Adcy8	APN	15	64787367	missense	probably damaging	1.00
IGL00690:Adcy8	APN	15	64699302	missense	probably damaging	1.00
IGL00990:Adcy8	APN	15	64822313	missense	probably benign	0.07
IGL01083:Adcy8	APN	15	64787342	missense	probably benign	0.21
IGL01296:Adcy8	APN	15	64783779	missense	probably damaging	0.98
IGL01433:Adcy8	APN	15	64737414	missense	possibly damaging	0.63
IGL01584:Adcy8	APN	15	64815321	missense	probably damaging	1.00
IGL01729:Adcy8	APN	15	64806662	missense	probably damaging	1.00
IGL02023:Adcy8	APN	15	64822220	missense	probably damaging	1.00
IGL02420:Adcy8	APN	15	64787454	missense	probably damaging	1.00
IGL02613:Adcy8	APN	15	64783984	missense	possibly damaging	0.82
IGL02662:Adcy8	APN	15	64746895	critical splice donor site	probably null
IGL03180:Adcy8	APN	15	64783950	missense	possibly damaging	0.77
IGL03327:Adcy8	APN	15	64920267	missense	probably damaging	1.00
revolutionary	UTSW	15	64699387	missense	probably damaging	1.00
whirligig	UTSW	15	64699285	missense	probably damaging	1.00
F0336:Adcy8	UTSW	15	64822234	missense	probably benign	0.38
K7894:Adcy8	UTSW	15	64822234	missense	probably benign	0.38
PIT4581001:Adcy8	UTSW	15	64754817	missense	probably damaging	1.00
R0035:Adcy8	UTSW	15	64699368	missense	probably benign	0.29
R0119:Adcy8	UTSW	15	64716166	missense	probably damaging	1.00
R0129:Adcy8	UTSW	15	64747013	missense	probably benign	0.18
R0299:Adcy8	UTSW	15	64716166	missense	probably damaging	1.00
R0573:Adcy8	UTSW	15	64822195	missense	probably damaging	1.00
R0961:Adcy8	UTSW	15	64754862	missense	possibly damaging	0.91
R1203:Adcy8	UTSW	15	64746931	missense	probably damaging	1.00
R1239:Adcy8	UTSW	15	64716062	missense	probably damaging	0.98
R1615:Adcy8	UTSW	15	64871776	missense	probably benign	0.25
R1881:Adcy8	UTSW	15	64806654	missense	probably damaging	0.96
R2013:Adcy8	UTSW	15	64767878	missense	probably benign	0.00
R2014:Adcy8	UTSW	15	64767878	missense	probably benign	0.00
R2015:Adcy8	UTSW	15	64767878	missense	probably benign	0.00
R2164:Adcy8	UTSW	15	64920934	missense	probably benign
R2228:Adcy8	UTSW	15	64822207	missense	possibly damaging	0.58
R2229:Adcy8	UTSW	15	64822207	missense	possibly damaging	0.58
R2241:Adcy8	UTSW	15	64699381	missense	possibly damaging	0.78
R3177:Adcy8	UTSW	15	64699159	missense	probably benign	0.10
R3277:Adcy8	UTSW	15	64699159	missense	probably benign	0.10
R3404:Adcy8	UTSW	15	64699600	missense	probably damaging	1.00
R3688:Adcy8	UTSW	15	64871707	missense	probably damaging	0.99
R3709:Adcy8	UTSW	15	64725535	splice site	probably benign
R3710:Adcy8	UTSW	15	64725535	splice site	probably benign
R3778:Adcy8	UTSW	15	64746997	missense	probably damaging	1.00
R4037:Adcy8	UTSW	15	64725470	missense	probably benign	0.06
R4685:Adcy8	UTSW	15	64737438	missense	probably benign	0.09
R4731:Adcy8	UTSW	15	64754862	missense	possibly damaging	0.91
R4732:Adcy8	UTSW	15	64754862	missense	possibly damaging	0.91
R4733:Adcy8	UTSW	15	64754862	missense	possibly damaging	0.91
R5071:Adcy8	UTSW	15	64787358	missense	probably damaging	1.00
R5073:Adcy8	UTSW	15	64787358	missense	probably damaging	1.00
R5074:Adcy8	UTSW	15	64787358	missense	probably damaging	1.00
R5091:Adcy8	UTSW	15	64806704	missense	probably damaging	1.00
R5285:Adcy8	UTSW	15	64767857	missense	possibly damaging	0.68
R5287:Adcy8	UTSW	15	64716152	missense	probably benign	0.04
R5403:Adcy8	UTSW	15	64716152	missense	probably benign	0.04
R5521:Adcy8	UTSW	15	64815350	missense	probably damaging	1.00
R5633:Adcy8	UTSW	15	64699285	missense	probably damaging	1.00
R5712:Adcy8	UTSW	15	64754866	missense	probably damaging	1.00
R5745:Adcy8	UTSW	15	64920471	missense	possibly damaging	0.91
R5787:Adcy8	UTSW	15	64704218	missense	probably damaging	0.98
R5839:Adcy8	UTSW	15	64716182	missense	probably damaging	1.00
R5890:Adcy8	UTSW	15	64815417	missense	probably damaging	1.00
R6156:Adcy8	UTSW	15	64817639	splice site	probably null
R6338:Adcy8	UTSW	15	64920617	missense	possibly damaging	0.94
R6516:Adcy8	UTSW	15	64699387	missense	probably damaging	1.00
R6525:Adcy8	UTSW	15	64737394	nonsense	probably null
R6636:Adcy8	UTSW	15	64787402	missense	probably damaging	1.00
R6823:Adcy8	UTSW	15	64754886	critical splice acceptor site	probably null
R7007:Adcy8	UTSW	15	64704716	missense	possibly damaging	0.88
R7070:Adcy8	UTSW	15	64920555	missense	probably damaging	1.00
R7092:Adcy8	UTSW	15	64871770	missense	possibly damaging	0.93
R7371:Adcy8	UTSW	15	64699218	missense	probably benign	0.19
R7457:Adcy8	UTSW	15	64920680	missense	possibly damaging	0.79
R7611:Adcy8	UTSW	15	64921033	missense	probably benign
R7644:Adcy8	UTSW	15	64699369	missense	possibly damaging	0.77
R7697:Adcy8	UTSW	15	64747001	missense	probably benign
R7735:Adcy8	UTSW	15	64783780	missense	probably benign	0.10
R7789:Adcy8	UTSW	15	64871774	nonsense	probably null
R7860:Adcy8	UTSW	15	64699473	missense	probably damaging	0.97
R7894:Adcy8	UTSW	15	64920205	missense	possibly damaging	0.60
R7948:Adcy8	UTSW	15	64815350	missense	possibly damaging	0.80
R7966:Adcy8	UTSW	15	64702090	missense	probably damaging	1.00
R8024:Adcy8	UTSW	15	64920246	missense	probably damaging	1.00
R8097:Adcy8	UTSW	15	64871862	splice site	probably null
R8158:Adcy8	UTSW	15	64783806	missense	probably benign	0.32
R8463:Adcy8	UTSW	15	64921025	missense	probably benign
R8474:Adcy8	UTSW	15	64704789	missense	probably damaging	0.98
R8696:Adcy8	UTSW	15	64815386	missense	probably benign	0.30
R8955:Adcy8	UTSW	15	64704705	missense	possibly damaging	0.92
R9015:Adcy8	UTSW	15	64725357	intron	probably benign
R9041:Adcy8	UTSW	15	64737438	missense	probably benign	0.31
R9052:Adcy8	UTSW	15	64920915	missense	probably benign	0.00
R9074:Adcy8	UTSW	15	64702091	missense	probably damaging	0.96
R9183:Adcy8	UTSW	15	64822267	missense	probably damaging	0.98
R9259:Adcy8	UTSW	15	64704755	missense	probably damaging	1.00
R9498:Adcy8	UTSW	15	64920196	missense	possibly damaging	0.88
R9522:Adcy8	UTSW	15	64920711	missense	probably damaging	0.99
R9800:Adcy8	UTSW	15	64699246	missense	probably benign	0.19
Z1176:Adcy8	UTSW	15	64725518	missense	probably benign	0.16
Z1177:Adcy8	UTSW	15	64699177	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTTTTGGCCTCATAGATCTTG -3'
(R):5'- AATACTCTCTGGCTGCGGTTG -3'

Sequencing Primer
(F):5'- GCCTCATAGATCTTGTGTATAGGAAG -3'
(R):5'- GTTGTCCTTGGCCTTGTCCAG -3'

Posted On

2021-10-11