Mutagenetix > Incidental Mutation

Incidental Mutation 'R5787:Adcy8'

448113

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64570884-64794145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64576067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1027 (D1027G)

Ref Sequence

ENSEMBL: ENSMUSP00000023007 (fasta)

Gene Model

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

AlphaFold

P97490

Predicted Effect

probably damaging
Transcript: ENSMUST00000023007
AA Change: D1027G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: D1027G

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

possibly damaging
Transcript: ENSMUST00000228014
AA Change: D997G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adam24	A	G	8: 41,133,941 (GRCm39)	N470D	possibly damaging	Het
Amph	A	T	13: 19,132,624 (GRCm39)	I8F	possibly damaging	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Atp6v0a1	A	G	11: 100,909,400 (GRCm39)	D43G	probably benign	Het
Bltp1	T	C	3: 37,046,882 (GRCm39)		probably null	Het
Btnl10	T	A	11: 58,811,169 (GRCm39)	I164N	probably damaging	Het
Ccdc174	C	T	6: 91,858,291 (GRCm39)	Q71*	probably null	Het
Ceacam3	G	A	7: 16,888,971 (GRCm39)	E247K	possibly damaging	Het
Chrna2	A	G	14: 66,386,457 (GRCm39)	D201G	probably benign	Het
Clasp2	G	A	9: 113,691,310 (GRCm39)	D448N	probably damaging	Het
Clcn2	C	A	16: 20,522,183 (GRCm39)	R829L	probably damaging	Het
Clock	A	G	5: 76,384,898 (GRCm39)	S440P	probably damaging	Het
Cntn2	T	C	1: 132,450,797 (GRCm39)	D29G	probably damaging	Het
Cpne4	A	G	9: 104,899,600 (GRCm39)	T428A	probably benign	Het
Cul3	T	C	1: 80,260,438 (GRCm39)	I304V	probably benign	Het
Cyp11a1	C	A	9: 57,922,550 (GRCm39)	Q77K	probably benign	Het
Cyp3a25	A	G	5: 145,935,313 (GRCm39)	V101A	probably benign	Het
Cyp4f15	T	C	17: 32,921,782 (GRCm39)	F485L	probably damaging	Het
Des	T	A	1: 75,340,290 (GRCm39)	V399E	probably damaging	Het
Dhx58	T	C	11: 100,592,145 (GRCm39)	D301G	possibly damaging	Het
Ear6	A	G	14: 52,091,855 (GRCm39)	E134G	probably benign	Het
Eif2b3	A	G	4: 116,901,637 (GRCm39)	D100G	probably damaging	Het
Erich1	T	C	8: 14,083,776 (GRCm39)		probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Htr4	T	C	18: 62,546,693 (GRCm39)	V82A	probably damaging	Het
Hydin	A	G	8: 111,052,985 (GRCm39)	D219G	probably damaging	Het
Ifit1	T	A	19: 34,624,975 (GRCm39)	V37E	probably benign	Het
Isg20	T	A	7: 78,569,558 (GRCm39)	D176E	probably benign	Het
Islr2	A	G	9: 58,105,637 (GRCm39)	V585A	probably damaging	Het
Kat6a	A	G	8: 23,422,663 (GRCm39)	E991G	probably damaging	Het
Kcnv1	T	C	15: 44,977,726 (GRCm39)	Y104C	probably damaging	Het
Lrtm1	G	C	14: 28,743,947 (GRCm39)	E138D	possibly damaging	Het
Mllt3	A	T	4: 87,759,057 (GRCm39)	D330E	probably damaging	Het
Mpp7	T	C	18: 7,461,682 (GRCm39)	N64D	probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Nop9	T	G	14: 55,983,791 (GRCm39)	C141G	possibly damaging	Het
Nos1ap	T	C	1: 170,146,141 (GRCm39)	E471G	probably benign	Het
Npr2	A	G	4: 43,633,593 (GRCm39)	T246A	possibly damaging	Het
Or2t1	A	C	14: 14,328,725 (GRCm38)	M205L	probably damaging	Het
Or4a76	T	A	2: 89,461,018 (GRCm39)	I75F	probably benign	Het
Or6z1	A	T	7: 6,504,989 (GRCm39)	S79T	probably damaging	Het
Pdlim4	T	A	11: 53,946,042 (GRCm39)	D271V	probably damaging	Het
Pik3r6	T	C	11: 68,430,753 (GRCm39)	V518A	possibly damaging	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rbsn	C	T	6: 92,176,797 (GRCm39)	V239I	possibly damaging	Het
Rsph14	T	A	10: 74,793,460 (GRCm39)	I314F	possibly damaging	Het
S1pr2	A	T	9: 20,879,232 (GRCm39)	S199T	probably benign	Het
Scrib	A	G	15: 75,931,151 (GRCm39)	L902P	probably damaging	Het
Slc25a23	T	C	17: 57,360,825 (GRCm39)	T200A	probably damaging	Het
Slc8a1	A	T	17: 81,696,166 (GRCm39)	I956N	probably damaging	Het
Spef2	A	G	15: 9,748,812 (GRCm39)	V15A	possibly damaging	Het
Stim1	T	A	7: 102,084,647 (GRCm39)	V533E	possibly damaging	Het
Tbck	A	T	3: 132,443,329 (GRCm39)	D585V	probably damaging	Het
Tpr	T	A	1: 150,271,037 (GRCm39)	L80Q	probably benign	Het
Trim67	C	T	8: 125,521,051 (GRCm39)	R138*	probably null	Het
Ttn	T	C	2: 76,580,627 (GRCm39)	N23422S	probably damaging	Het
Uba6	A	G	5: 86,260,511 (GRCm39)	*1023Q	probably null	Het
Vmn1r208	T	C	13: 22,956,841 (GRCm39)	N219D	possibly damaging	Het
Vmn1r8	T	A	6: 57,013,244 (GRCm39)	S98R	probably damaging	Het

Other mutations in Adcy8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Adcy8	APN	15	64,659,216 (GRCm39)	missense	probably damaging	1.00
IGL00690:Adcy8	APN	15	64,571,151 (GRCm39)	missense	probably damaging	1.00
IGL00990:Adcy8	APN	15	64,694,162 (GRCm39)	missense	probably benign	0.07
IGL01083:Adcy8	APN	15	64,659,191 (GRCm39)	missense	probably benign	0.21
IGL01296:Adcy8	APN	15	64,655,628 (GRCm39)	missense	probably damaging	0.98
IGL01433:Adcy8	APN	15	64,609,263 (GRCm39)	missense	possibly damaging	0.63
IGL01584:Adcy8	APN	15	64,687,170 (GRCm39)	missense	probably damaging	1.00
IGL01729:Adcy8	APN	15	64,678,511 (GRCm39)	missense	probably damaging	1.00
IGL02023:Adcy8	APN	15	64,694,069 (GRCm39)	missense	probably damaging	1.00
IGL02420:Adcy8	APN	15	64,659,303 (GRCm39)	missense	probably damaging	1.00
IGL02613:Adcy8	APN	15	64,655,833 (GRCm39)	missense	possibly damaging	0.82
IGL02662:Adcy8	APN	15	64,618,744 (GRCm39)	critical splice donor site	probably null
IGL03180:Adcy8	APN	15	64,655,799 (GRCm39)	missense	possibly damaging	0.77
IGL03327:Adcy8	APN	15	64,792,116 (GRCm39)	missense	probably damaging	1.00
revolutionary	UTSW	15	64,571,236 (GRCm39)	missense	probably damaging	1.00
whirligig	UTSW	15	64,571,134 (GRCm39)	missense	probably damaging	1.00
F0336:Adcy8	UTSW	15	64,694,083 (GRCm39)	missense	probably benign	0.38
K7894:Adcy8	UTSW	15	64,694,083 (GRCm39)	missense	probably benign	0.38
PIT4581001:Adcy8	UTSW	15	64,626,666 (GRCm39)	missense	probably damaging	1.00
R0035:Adcy8	UTSW	15	64,571,217 (GRCm39)	missense	probably benign	0.29
R0119:Adcy8	UTSW	15	64,588,015 (GRCm39)	missense	probably damaging	1.00
R0129:Adcy8	UTSW	15	64,618,862 (GRCm39)	missense	probably benign	0.18
R0299:Adcy8	UTSW	15	64,588,015 (GRCm39)	missense	probably damaging	1.00
R0573:Adcy8	UTSW	15	64,694,044 (GRCm39)	missense	probably damaging	1.00
R0961:Adcy8	UTSW	15	64,626,711 (GRCm39)	missense	possibly damaging	0.91
R1203:Adcy8	UTSW	15	64,618,780 (GRCm39)	missense	probably damaging	1.00
R1239:Adcy8	UTSW	15	64,587,911 (GRCm39)	missense	probably damaging	0.98
R1615:Adcy8	UTSW	15	64,743,625 (GRCm39)	missense	probably benign	0.25
R1881:Adcy8	UTSW	15	64,678,503 (GRCm39)	missense	probably damaging	0.96
R2013:Adcy8	UTSW	15	64,639,727 (GRCm39)	missense	probably benign	0.00
R2014:Adcy8	UTSW	15	64,639,727 (GRCm39)	missense	probably benign	0.00
R2015:Adcy8	UTSW	15	64,639,727 (GRCm39)	missense	probably benign	0.00
R2164:Adcy8	UTSW	15	64,792,783 (GRCm39)	missense	probably benign
R2228:Adcy8	UTSW	15	64,694,056 (GRCm39)	missense	possibly damaging	0.58
R2229:Adcy8	UTSW	15	64,694,056 (GRCm39)	missense	possibly damaging	0.58
R2241:Adcy8	UTSW	15	64,571,230 (GRCm39)	missense	possibly damaging	0.78
R3177:Adcy8	UTSW	15	64,571,008 (GRCm39)	missense	probably benign	0.10
R3277:Adcy8	UTSW	15	64,571,008 (GRCm39)	missense	probably benign	0.10
R3404:Adcy8	UTSW	15	64,571,449 (GRCm39)	missense	probably damaging	1.00
R3688:Adcy8	UTSW	15	64,743,556 (GRCm39)	missense	probably damaging	0.99
R3709:Adcy8	UTSW	15	64,597,384 (GRCm39)	splice site	probably benign
R3710:Adcy8	UTSW	15	64,597,384 (GRCm39)	splice site	probably benign
R3778:Adcy8	UTSW	15	64,618,846 (GRCm39)	missense	probably damaging	1.00
R4037:Adcy8	UTSW	15	64,597,319 (GRCm39)	missense	probably benign	0.06
R4685:Adcy8	UTSW	15	64,609,287 (GRCm39)	missense	probably benign	0.09
R4731:Adcy8	UTSW	15	64,626,711 (GRCm39)	missense	possibly damaging	0.91
R4732:Adcy8	UTSW	15	64,626,711 (GRCm39)	missense	possibly damaging	0.91
R4733:Adcy8	UTSW	15	64,626,711 (GRCm39)	missense	possibly damaging	0.91
R5071:Adcy8	UTSW	15	64,659,207 (GRCm39)	missense	probably damaging	1.00
R5073:Adcy8	UTSW	15	64,659,207 (GRCm39)	missense	probably damaging	1.00
R5074:Adcy8	UTSW	15	64,659,207 (GRCm39)	missense	probably damaging	1.00
R5091:Adcy8	UTSW	15	64,678,553 (GRCm39)	missense	probably damaging	1.00
R5285:Adcy8	UTSW	15	64,639,706 (GRCm39)	missense	possibly damaging	0.68
R5287:Adcy8	UTSW	15	64,588,001 (GRCm39)	missense	probably benign	0.04
R5403:Adcy8	UTSW	15	64,588,001 (GRCm39)	missense	probably benign	0.04
R5521:Adcy8	UTSW	15	64,687,199 (GRCm39)	missense	probably damaging	1.00
R5633:Adcy8	UTSW	15	64,571,134 (GRCm39)	missense	probably damaging	1.00
R5712:Adcy8	UTSW	15	64,626,715 (GRCm39)	missense	probably damaging	1.00
R5745:Adcy8	UTSW	15	64,792,320 (GRCm39)	missense	possibly damaging	0.91
R5839:Adcy8	UTSW	15	64,588,031 (GRCm39)	missense	probably damaging	1.00
R5890:Adcy8	UTSW	15	64,687,266 (GRCm39)	missense	probably damaging	1.00
R6156:Adcy8	UTSW	15	64,689,488 (GRCm39)	splice site	probably null
R6338:Adcy8	UTSW	15	64,792,466 (GRCm39)	missense	possibly damaging	0.94
R6516:Adcy8	UTSW	15	64,571,236 (GRCm39)	missense	probably damaging	1.00
R6525:Adcy8	UTSW	15	64,609,243 (GRCm39)	nonsense	probably null
R6636:Adcy8	UTSW	15	64,659,251 (GRCm39)	missense	probably damaging	1.00
R6823:Adcy8	UTSW	15	64,626,735 (GRCm39)	critical splice acceptor site	probably null
R7007:Adcy8	UTSW	15	64,576,565 (GRCm39)	missense	possibly damaging	0.88
R7070:Adcy8	UTSW	15	64,792,404 (GRCm39)	missense	probably damaging	1.00
R7092:Adcy8	UTSW	15	64,743,619 (GRCm39)	missense	possibly damaging	0.93
R7371:Adcy8	UTSW	15	64,571,067 (GRCm39)	missense	probably benign	0.19
R7457:Adcy8	UTSW	15	64,792,529 (GRCm39)	missense	possibly damaging	0.79
R7611:Adcy8	UTSW	15	64,792,882 (GRCm39)	missense	probably benign
R7644:Adcy8	UTSW	15	64,571,218 (GRCm39)	missense	possibly damaging	0.77
R7697:Adcy8	UTSW	15	64,618,850 (GRCm39)	missense	probably benign
R7735:Adcy8	UTSW	15	64,655,629 (GRCm39)	missense	probably benign	0.10
R7789:Adcy8	UTSW	15	64,743,623 (GRCm39)	nonsense	probably null
R7860:Adcy8	UTSW	15	64,571,322 (GRCm39)	missense	probably damaging	0.97
R7894:Adcy8	UTSW	15	64,792,054 (GRCm39)	missense	possibly damaging	0.60
R7948:Adcy8	UTSW	15	64,687,199 (GRCm39)	missense	possibly damaging	0.80
R7966:Adcy8	UTSW	15	64,573,939 (GRCm39)	missense	probably damaging	1.00
R8024:Adcy8	UTSW	15	64,792,095 (GRCm39)	missense	probably damaging	1.00
R8097:Adcy8	UTSW	15	64,743,711 (GRCm39)	splice site	probably null
R8158:Adcy8	UTSW	15	64,655,655 (GRCm39)	missense	probably benign	0.32
R8463:Adcy8	UTSW	15	64,792,874 (GRCm39)	missense	probably benign
R8474:Adcy8	UTSW	15	64,576,638 (GRCm39)	missense	probably damaging	0.98
R8696:Adcy8	UTSW	15	64,687,235 (GRCm39)	missense	probably benign	0.30
R8955:Adcy8	UTSW	15	64,576,554 (GRCm39)	missense	possibly damaging	0.92
R8973:Adcy8	UTSW	15	64,570,984 (GRCm39)	makesense	probably null
R9015:Adcy8	UTSW	15	64,597,206 (GRCm39)	intron	probably benign
R9041:Adcy8	UTSW	15	64,609,287 (GRCm39)	missense	probably benign	0.31
R9052:Adcy8	UTSW	15	64,792,764 (GRCm39)	missense	probably benign	0.00
R9074:Adcy8	UTSW	15	64,573,940 (GRCm39)	missense	probably damaging	0.96
R9183:Adcy8	UTSW	15	64,694,116 (GRCm39)	missense	probably damaging	0.98
R9259:Adcy8	UTSW	15	64,576,604 (GRCm39)	missense	probably damaging	1.00
R9498:Adcy8	UTSW	15	64,792,045 (GRCm39)	missense	possibly damaging	0.88
R9522:Adcy8	UTSW	15	64,792,560 (GRCm39)	missense	probably damaging	0.99
R9800:Adcy8	UTSW	15	64,571,095 (GRCm39)	missense	probably benign	0.19
Z1176:Adcy8	UTSW	15	64,597,367 (GRCm39)	missense	probably benign	0.16
Z1177:Adcy8	UTSW	15	64,571,026 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCTGCAACAGCTCCCTC -3'
(R):5'- AGCATCAGAACTCTTGGGATGTTTTA -3'

Sequencing Primer
(F):5'- GCAACAGCTCCCTCCCATTG -3'
(R):5'- TTAGTCACCACAGTGTGCAATGG -3'

Posted On

2016-12-15