Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Adcy8'

271931

Institutional Source

Beutler Lab

Gene Symbol

Adcy8

Ensembl Gene

ENSMUSG00000022376

Gene Name

adenylate cyclase 8

Synonyms

AC8

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

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

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64570884-64794145 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64618846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 769 (L769H)

Ref Sequence

ENSEMBL: ENSMUSP00000154029 (fasta)

Gene Model

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

AlphaFold

P97490

Predicted Effect

probably damaging
Transcript: ENSMUST00000023007
AA Change: L769H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023007
Gene: ENSMUSG00000022376
AA Change: L769H

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: L769H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	probably benign	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
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
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'- AACTTGGGGCTGACTGGAAC -3'
(R):5'- CAAGATTTCCAGGGCCATTG -3'

Sequencing Primer
(F):5'- CAAGAAGTTGCTGGTTCTCTAAGCTC -3'
(R):5'- CCATTGGGTGGGGATGGG -3'

Posted On

2015-03-25