Mutagenetix > Incidental Mutation

Incidental Mutation 'R7457:Adcy8'

578222

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

045531-MU

Accession Numbers

Essential gene?

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

Stock #

R7457 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64570884-64794145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64792529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 142 (N142K)

Ref Sequence

ENSEMBL: ENSMUSP00000023007 (fasta)

Gene Model

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

AlphaFold

P97490

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023007
AA Change: N142K

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: N142K

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

possibly damaging
Transcript: ENSMUST00000228014
AA Change: N142K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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
Adam32	A	T	8: 25,374,635 (GRCm39)	H452Q	probably damaging	Het
Alkbh8	T	A	9: 3,343,056 (GRCm39)	S57R	probably damaging	Het
Atp4a	A	G	7: 30,420,192 (GRCm39)	T780A	probably benign	Het
Atp9b	A	T	18: 80,960,833 (GRCm39)		probably null	Het
Cdyl2	A	T	8: 117,305,935 (GRCm39)	V442E	probably damaging	Het
Ces2a	C	T	8: 105,464,021 (GRCm39)	R218C	possibly damaging	Het
Cfap57	A	T	4: 118,446,198 (GRCm39)	V688E	probably damaging	Het
Clec11a	T	C	7: 43,955,379 (GRCm39)	T139A	probably benign	Het
Clstn1	A	T	4: 149,719,373 (GRCm39)	T411S	probably benign	Het
Commd5	A	T	15: 76,784,824 (GRCm39)	S74C	probably damaging	Het
Cyp3a59	C	A	5: 146,041,560 (GRCm39)	P368Q	probably damaging	Het
Dennd4b	A	G	3: 90,176,622 (GRCm39)	M309V	probably benign	Het
Dhrs9	T	A	2: 69,231,611 (GRCm39)	V257E	probably benign	Het
Dhx16	T	C	17: 36,201,952 (GRCm39)	V993A	probably damaging	Het
Dok5	A	T	2: 170,712,735 (GRCm39)	Q247L	probably benign	Het
E330034G19Rik	A	T	14: 24,359,582 (GRCm39)	E331V	unknown	Het
Efs	A	G	14: 55,157,451 (GRCm39)	S287P	probably benign	Het
Fbn1	T	C	2: 125,193,667 (GRCm39)	N1384S	possibly damaging	Het
Flt4	A	G	11: 49,521,155 (GRCm39)	E388G	possibly damaging	Het
Fmn2	T	A	1: 174,331,303 (GRCm39)		probably null	Het
Fmo4	T	C	1: 162,621,672 (GRCm39)	Y513C	probably benign	Het
Gbp4	T	C	5: 105,267,419 (GRCm39)	E500G	probably damaging	Het
Gm29106	T	C	1: 118,126,982 (GRCm39)	S225P	probably damaging	Het
Gstt2	G	A	10: 75,668,354 (GRCm39)	R134W	probably damaging	Het
Gucy1b2	T	C	14: 62,630,401 (GRCm39)	T782A	probably benign	Het
Gzf1	G	T	2: 148,532,002 (GRCm39)	R543L	probably damaging	Het
H2-Eb2	G	A	17: 34,553,321 (GRCm39)	G169E	probably damaging	Het
Hdhd3	T	A	4: 62,418,027 (GRCm39)	R50W	probably damaging	Het
Hdlbp	T	C	1: 93,355,944 (GRCm39)	K407E	probably benign	Het
Isl2	A	G	9: 55,452,240 (GRCm39)	T271A	probably benign	Het
Kbtbd7	GTCTCTC	GTC	14: 79,665,364 (GRCm39)		probably null	Het
Kdm4b	T	A	17: 56,703,319 (GRCm39)	N671K	probably damaging	Het
Lats1	T	A	10: 7,586,655 (GRCm39)	L939H	probably damaging	Het
Map3k1	A	T	13: 111,892,789 (GRCm39)	M822K	probably damaging	Het
Mettl18	C	A	1: 163,824,330 (GRCm39)	T217N	probably damaging	Het
Nav3	A	T	10: 109,532,189 (GRCm39)	Y2083*	probably null	Het
Nckap1l	T	C	15: 103,362,233 (GRCm39)		probably benign	Het
Nkx2-3	A	G	19: 43,600,986 (GRCm39)	D16G	probably damaging	Het
Nlrx1	A	G	9: 44,167,807 (GRCm39)	S697P	probably benign	Het
Or14j4	T	C	17: 37,921,456 (GRCm39)	K62R	possibly damaging	Het
Or1e29	G	C	11: 73,667,652 (GRCm39)	S167C	probably benign	Het
Or4k6	A	T	14: 50,475,825 (GRCm39)	N172K	probably damaging	Het
Or6c75	T	C	10: 129,337,575 (GRCm39)	V266A	probably damaging	Het
Pappa	A	T	4: 65,107,503 (GRCm39)	D638V	probably damaging	Het
Pot1a	T	C	6: 25,771,621 (GRCm39)	D200G	probably benign	Het
Ptprs	G	T	17: 56,726,502 (GRCm39)	T1366K	probably damaging	Het
Sass6	A	T	3: 116,413,813 (GRCm39)	R505S	probably benign	Het
Slc30a6	T	C	17: 74,714,233 (GRCm39)	I84T	probably benign	Het
Sox10	A	T	15: 79,040,339 (GRCm39)	F400L	probably benign	Het
Spata31d1b	A	T	13: 59,864,723 (GRCm39)	I624F	probably damaging	Het
Stpg4	A	G	17: 87,735,006 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,963,309 (GRCm39)	K340N	probably damaging	Het
Tspan12	T	A	6: 21,772,682 (GRCm39)	H289L	probably benign	Het
Ubr1	T	A	2: 120,748,309 (GRCm39)	T809S	probably benign	Het
Vmn1r43	C	T	6: 89,847,172 (GRCm39)	V105M	probably damaging	Het
Vmn1r49	A	G	6: 90,049,534 (GRCm39)	V156A	probably benign	Het
Wnt5a	A	G	14: 28,240,236 (GRCm39)		probably null	Het
Wwp2	T	A	8: 108,244,592 (GRCm39)	S255T	probably benign	Het
Zbtb10	A	G	3: 9,316,538 (GRCm39)	T117A	possibly damaging	Het
Zfp800	C	T	6: 28,244,228 (GRCm39)	V246I	probably benign	Het
Zfp955a	G	T	17: 33,463,025 (GRCm39)	Y35*	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
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
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'- CTTGAGAGGGTCCATTGGAG -3'
(R):5'- TCGGATGTGCACTGCCTTAG -3'

Sequencing Primer
(F):5'- AGGCCAGGCTCAAGTGCAG -3'
(R):5'- CCTTAGTGGCAGCGAGGAAC -3'

Posted On

2019-10-07