Mutagenetix > Incidental Mutation

Incidental Mutation 'R5633:Adcy8'

439999

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

043284-MU

Accession Numbers

Essential gene?

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

Stock #

R5633 (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 64571134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1170 (S1170P)

Ref Sequence

ENSEMBL: ENSMUSP00000154029 (fasta)

Gene Model

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

AlphaFold

P97490

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023007
AA Change: S1200P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: S1200P

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: S1170P

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

Meta Mutation Damage Score

0.1256

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,344,598 (GRCm39)	C125S	probably benign	Het
Abcb8	T	C	5: 24,608,107 (GRCm39)	L382P	probably damaging	Het
Acot3	A	G	12: 84,105,724 (GRCm39)		probably null	Het
Acsl6	A	T	11: 54,228,015 (GRCm39)	Q345L	probably benign	Het
Ankrd28	T	G	14: 31,457,022 (GRCm39)	D182A	probably damaging	Het
B3galt5	A	T	16: 96,116,709 (GRCm39)	H114L	probably benign	Het
Bcas2	T	A	3: 103,085,740 (GRCm39)	Y207*	probably null	Het
Best1	A	G	19: 9,969,467 (GRCm39)	L197P	probably benign	Het
Chil6	C	A	3: 106,296,068 (GRCm39)	C389F	probably damaging	Het
Chrna4	T	C	2: 180,671,253 (GRCm39)	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,194,110 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,160 (GRCm39)	L441P	probably damaging	Het
Dmtn	T	C	14: 70,842,419 (GRCm39)	M365V	probably benign	Het
Dmxl1	T	A	18: 50,010,764 (GRCm39)	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,156,626 (GRCm39)	D150G	probably benign	Het
Eef2k	C	A	7: 120,472,513 (GRCm39)		probably benign	Het
Elp2	T	A	18: 24,748,267 (GRCm39)	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,241 (GRCm39)		probably null	Het
Gm11559	C	A	11: 99,755,412 (GRCm39)	C20*	probably null	Het
Gnb2	T	C	5: 137,527,454 (GRCm39)	I213V	probably benign	Het
Gnb5	C	T	9: 75,251,796 (GRCm39)	T306I	probably damaging	Het
Ica1	A	T	6: 8,667,257 (GRCm39)	I303N	possibly damaging	Het
Idh1	A	G	1: 65,204,295 (GRCm39)	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,578,256 (GRCm39)	Q273*	probably null	Het
Itpkb	A	T	1: 180,154,790 (GRCm39)	⇒1	probably benign	Het
Kntc1	C	T	5: 123,957,120 (GRCm39)	T2143I	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,787,943 (GRCm39)	D464E	possibly damaging	Het
Med13	A	G	11: 86,169,757 (GRCm39)		probably benign	Het
Mn1	T	C	5: 111,568,192 (GRCm39)	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,775,467 (GRCm39)	L1026Q	possibly damaging	Het
Or6c204	A	T	10: 129,022,718 (GRCm39)	F191I	probably benign	Het
P4htm	A	C	9: 108,456,922 (GRCm39)	D428E	probably damaging	Het
Parp8	C	T	13: 117,013,116 (GRCm39)	R602H	probably damaging	Het
Pkd2	T	A	5: 104,646,372 (GRCm39)	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,183,342 (GRCm39)	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,746,500 (GRCm39)	I359T	probably benign	Het
Rassf6	T	C	5: 90,751,977 (GRCm39)	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,450,915 (GRCm39)	I413T	probably damaging	Het
Rpn2	T	A	2: 157,125,516 (GRCm39)	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,064,390 (GRCm39)	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,774,325 (GRCm39)	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,260,087 (GRCm39)	P163Q	probably damaging	Het
Smc4	T	A	3: 68,915,443 (GRCm39)	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455 (GRCm39)	I439K	probably benign	Het
Syt9	C	T	7: 107,024,503 (GRCm39)	T132I	probably damaging	Het
Timd6	C	T	11: 46,465,433 (GRCm39)	S9L	unknown	Het
Trpm2	T	C	10: 77,774,187 (GRCm39)	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,253,361 (GRCm39)	M358T	probably benign	Het
Vmn1r91	A	T	7: 19,835,870 (GRCm39)	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,579,169 (GRCm39)	D648G	probably benign	Het
Zpbp2	T	C	11: 98,445,584 (GRCm39)	I150T	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
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
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'- GACCAATGAAACCATCCTTGTTC -3'
(R):5'- TTGCCTTTGACTACCGTGGG -3'

Sequencing Primer
(F):5'- AACGAGAAAGAAACACAAAGAAAATG -3'
(R):5'- ACTACCGTGGGGAGATATATGTG -3'

Posted On

2016-11-08