Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Adcy8'

449824

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

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

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64570884-64794145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64588031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 919 (Y919H)

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: Y919H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: Y919H

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 damaging
Transcript: ENSMUST00000228014
AA Change: Y889H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.2787

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	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
R5787:Adcy8	UTSW	15	64,576,067 (GRCm39)	missense	probably damaging	0.98
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'- TTTTCCGAGGGCTCAGGATC -3'
(R):5'- TGCAAGCTCTTACTATTCCCAGATAG -3'

Sequencing Primer
(F):5'- GCTCAGGATCAGTGTGAGC -3'
(R):5'- AGATAGCTTGGCTTCAGACC -3'

Posted On

2016-12-20