Mutagenetix > Incidental Mutations

Incidental Mutation 'R7070:Adcy8'

548857

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

Accession Numbers

Genbank: NM_009623; MGI: 1341110

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64697084-64922296 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64920555 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 184 (N184I)

Ref Sequence

ENSEMBL: ENSMUSP00000023007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023007] [ENSMUST00000180105] [ENSMUST00000228014]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023007
AA Change: N184I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: N184I

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 benign
Transcript: ENSMUST00000180105

SMART Domains

Protein: ENSMUSP00000136962
Gene: ENSMUSG00000094296

Domain	Start	End	E-Value	Type
low complexity region	60	87	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000228014
AA Change: N184I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544G11Rik	T	C	6: 65,953,248	Y156H	probably damaging	Het
Abca13	T	A	11: 9,290,701	F855I	probably benign	Het
Abca2	T	G	2: 25,442,995	F1569V	probably benign	Het
Akap3	T	C	6: 126,874,024	V835A	probably damaging	Het
Atg5	T	A	10: 44,286,154	L22H	probably damaging	Het
Atp13a5	A	G	16: 29,334,061	F196L	possibly damaging	Het
C1qtnf9	A	G	14: 60,779,783	H254R	probably damaging	Het
Capza3	C	T	6: 140,041,920	R82C	probably damaging	Het
Ccdc126	A	G	6: 49,339,862	D92G	probably damaging	Het
Cdh12	T	A	15: 21,583,829	M585K	probably benign	Het
Chrnb3	A	T	8: 27,393,961	Y242F	probably damaging	Het
Cngb3	T	C	4: 19,425,593	V467A	possibly damaging	Het
Cnot8	A	G	11: 58,117,452	D248G	probably benign	Het
Cntn1	C	T	15: 92,254,036	T452M	probably damaging	Het
Cygb	C	A	11: 116,654,025		probably benign	Het
D930020B18Rik	G	A	10: 121,641,974	V35M	probably damaging	Het
Dcaf17	C	T	2: 71,088,513	T477M	probably benign	Het
Dpp3	A	T	19: 4,918,328	F239I	probably benign	Het
Dst	T	A	1: 34,275,302	V6442E	probably damaging	Het
Enpp2	T	A	15: 54,899,289	I188F	probably damaging	Het
Galnt5	A	G	2: 57,998,609	M74V	probably benign	Het
Grin2a	T	C	16: 9,579,424	D933G	possibly damaging	Het
Gtf2i	T	A	5: 134,282,803	E223D	probably damaging	Het
H2-M5	C	A	17: 36,989,159	G41V	possibly damaging	Het
Hars2	C	T	18: 36,791,112	R501*	probably null	Het
Heatr4	A	G	12: 83,969,858	V545A	probably benign	Het
Hsd3b3	T	A	3: 98,742,471	T179S	possibly damaging	Het
Ighv5-6	A	G	12: 113,625,809	V17A	probably damaging	Het
Jak3	A	G	8: 71,684,611	D772G	probably damaging	Het
Jakmip2	A	T	18: 43,557,328		probably null	Het
Kcnj15	C	G	16: 95,295,831	T104S	probably damaging	Het
Kndc1	A	G	7: 139,921,828	E927G	probably damaging	Het
Larp1b	G	T	3: 40,976,651	G275C	probably damaging	Het
Lyst	C	A	13: 13,757,444	H3552Q	probably benign	Het
Mast2	A	T	4: 116,310,855	I960N	probably benign	Het
Mcee	G	A	7: 64,400,330	V70I	possibly damaging	Het
Muc16	G	A	9: 18,645,923	Q3025*	probably null	Het
Nrg1	T	A	8: 31,849,437	T45S	probably damaging	Het
Nutm1	T	A	2: 112,249,461	H703L	probably benign	Het
Olfr1023	G	A	2: 85,887,690	V297I	probably benign	Het
Olfr1354	A	T	10: 78,917,268	I143L	probably benign	Het
Pbx1	A	C	1: 168,195,768	C273G	probably damaging	Het
Peg10	ACATCAGGATCC	ACATCAGGATCCCCATCAGGATCC	6: 4,756,454		probably benign	Het
Phf1	A	G	17: 26,934,333	T42A	possibly damaging	Het
Pigm	T	A	1: 172,377,666	I323N	probably damaging	Het
Plcg2	G	A	8: 117,596,306	R700H	probably benign	Het
Ptx4	G	A	17: 25,122,997	A149T	probably benign	Het
Rab6a	A	G	7: 100,629,857	D68G	probably damaging	Het
Rcan3	C	T	4: 135,416,587	E185K	probably damaging	Het
Rnf14	A	G	18: 38,301,728	N76S	possibly damaging	Het
Rpf1	A	T	3: 146,512,184	F192I	probably damaging	Het
Rps6ka1	T	C	4: 133,861,448	T285A	probably benign	Het
Rrp8	T	C	7: 105,734,876	K94E	possibly damaging	Het
Rsbn1	A	G	3: 103,928,983	K122E	probably damaging	Het
Senp1	T	C	15: 98,082,306	T53A	possibly damaging	Het
Slc23a1	T	G	18: 35,621,781	D519A	probably damaging	Het
Slfn14	T	G	11: 83,276,705	R661S	probably benign	Het
Snta1	T	C	2: 154,381,059	E248G	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	CATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAG	16: 91,656,841		probably benign	Het
Stk11ip	C	T	1: 75,527,615	H297Y	probably benign	Het
Synpr	T	A	14: 13,493,628	F76I	probably damaging	Het
Thegl	G	T	5: 77,047,277		probably null	Het
Tns2	A	G	15: 102,104,533	R27G	possibly damaging	Het
Trav5-4	C	T	14: 53,704,455	S95F	possibly damaging	Het
Ttyh1	T	C	7: 4,133,364	Y330H	probably damaging	Het
Ugt1a2	T	A	1: 88,201,502		probably null	Het
Vmn2r69	T	C	7: 85,411,480	I299V	probably damaging	Het
Vmn2r90	T	A	17: 17,704,051	D37E	probably damaging	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	unclassified	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
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

Predicted Primers

PCR Primer
(F):5'- CCGCTGTATTGCAGGTAAGTG -3'
(R):5'- GTGGCACCAAAGTCTTTCCG -3'

Sequencing Primer
(F):5'- ATTGCAGGTAAGTGTGGGAG -3'
(R):5'- GCGACTTGGGCTTCCTACAC -3'

Posted On

2019-05-13