Mutagenetix > Incidental Mutation

Incidental Mutation 'R5712:Adcy8'

450974

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

043334-MU

Accession Numbers

Essential gene?

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

Stock #

R5712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64570884-64794145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64626715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 708 (E708K)

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: E708K

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

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: E708K

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: E708K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,563 (GRCm39)	T133A	probably benign	Het
Alkbh1	A	G	12: 87,475,883 (GRCm39)	C300R	probably benign	Het
Arhgap11a	T	C	2: 113,675,646 (GRCm39)	N52D	probably benign	Het
Ash1l	T	A	3: 88,959,297 (GRCm39)	S2225T	probably damaging	Het
Aspn	A	T	13: 49,716,995 (GRCm39)	Y257F	probably damaging	Het
Atp2b4	A	C	1: 133,658,278 (GRCm39)	V544G	probably damaging	Het
Bclaf1	T	G	10: 20,209,277 (GRCm39)	Y498D	probably damaging	Het
Cacna1d	A	G	14: 29,796,954 (GRCm39)	I1520T	probably damaging	Het
Castor1	T	C	11: 4,168,378 (GRCm39)	L22P	probably damaging	Het
Cfap57	G	T	4: 118,471,992 (GRCm39)	P129Q	probably damaging	Het
Clcn3	A	G	8: 61,390,332 (GRCm39)		probably null	Het
Epx	A	T	11: 87,765,679 (GRCm39)	Y93*	probably null	Het
Erich6b	T	A	14: 75,896,340 (GRCm39)	D75E	possibly damaging	Het
Exoc3l4	T	A	12: 111,390,476 (GRCm39)	Y350*	probably null	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fga	C	T	3: 82,940,440 (GRCm39)	T698I	possibly damaging	Het
Fsip2	T	C	2: 82,839,192 (GRCm39)	S6987P	possibly damaging	Het
Gbp9	T	A	5: 105,242,421 (GRCm39)	N106I	possibly damaging	Het
Gls	T	A	1: 52,235,911 (GRCm39)	K401N	probably damaging	Het
Gpatch2l	A	G	12: 86,291,254 (GRCm39)	K146E	probably damaging	Het
Gpr3	A	G	4: 132,937,719 (GRCm39)	S318P	probably benign	Het
Kbtbd7	T	C	14: 79,666,205 (GRCm39)	V679A	possibly damaging	Het
Kcnu1	T	A	8: 26,409,678 (GRCm39)	L127H	probably damaging	Het
Lck	G	T	4: 129,450,103 (GRCm39)	H214Q	probably benign	Het
Lrch4	A	C	5: 137,636,188 (GRCm39)	S380R	possibly damaging	Het
Lrrk2	A	T	15: 91,586,425 (GRCm39)	K414*	probably null	Het
Maco1	A	T	4: 134,555,369 (GRCm39)	M368K	probably benign	Het
Med11	A	G	11: 70,344,058 (GRCm39)	E126G	probably damaging	Het
Mknk1	A	G	4: 115,712,203 (GRCm39)		probably null	Het
Mst1	T	C	9: 107,960,107 (GRCm39)	C355R	probably damaging	Het
Mtcl2	T	A	2: 156,872,841 (GRCm39)	E890V	probably damaging	Het
Myl10	T	C	5: 136,723,092 (GRCm39)	F14L	probably damaging	Het
Nfrkb	C	T	9: 31,325,932 (GRCm39)	T1125M	probably benign	Het
Nin	T	C	12: 70,089,543 (GRCm39)	T1291A	probably damaging	Het
Pcnt	T	C	10: 76,265,105 (GRCm39)	Q335R	probably damaging	Het
Phc2	A	G	4: 128,638,888 (GRCm39)	T83A	probably damaging	Het
Rdh19	T	A	10: 127,692,756 (GRCm39)	M141K	probably benign	Het
Rnf17	G	A	14: 56,708,856 (GRCm39)	V759I	probably benign	Het
Sirt7	A	T	11: 120,511,677 (GRCm39)	Y18*	probably null	Het
Slc27a5	T	C	7: 12,732,010 (GRCm39)		probably benign	Het
Synpo2	T	A	3: 122,914,859 (GRCm39)	I56F	probably damaging	Het
Tdrd6	C	A	17: 43,937,299 (GRCm39)	G1250C	probably damaging	Het
Tmem190	G	A	7: 4,787,288 (GRCm39)	G164D	probably damaging	Het
Tmigd1	T	C	11: 76,797,858 (GRCm39)	Y67H	probably damaging	Het
Trim3	T	A	7: 105,268,743 (GRCm39)	E70D	probably damaging	Het
Uap1	A	G	1: 169,994,414 (GRCm39)	F21L	possibly damaging	Het
Vmn1r176	A	T	7: 23,534,925 (GRCm39)	V76D	probably benign	Het
Vps13d	A	C	4: 144,813,743 (GRCm39)	S3245A	probably benign	Het
Wnt7a	T	C	6: 91,343,186 (GRCm39)	Y232C	probably damaging	Het
Zan	A	G	5: 137,398,360 (GRCm39)	V4224A	unknown	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
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
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'- ACAGGTCAGATGGATGGCTC -3'
(R):5'- GATGAATAGCCTGCCCTGTGTG -3'

Sequencing Primer
(F):5'- CCAGGTAAGGGCTCATCACTTC -3'
(R):5'- ATTTTGGGTGAAACAGCTTCC -3'

Posted On

2017-01-03