Mutagenetix > Incidental Mutation

Incidental Mutation 'R5304:Adcy1'

404445

Institutional Source

Beutler Lab

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

I-AC, D11Bwg1392e, AC1

MMRRC Submission

042887-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7063489-7178506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7064198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 200 (A200V)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020706]

AlphaFold

O88444

Predicted Effect

probably benign
Transcript: ENSMUST00000020706
AA Change: A200V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: A200V

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
low complexity region	58	90	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
CYCc	257	455	2.05e-80	SMART
transmembrane domain	608	630	N/A	INTRINSIC
transmembrane domain	634	656	N/A	INTRINSIC
transmembrane domain	676	698	N/A	INTRINSIC
CYCc	827	1038	1.71e-50	SMART
low complexity region	1090	1104	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (87/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,424,232	T49S	probably benign	Het
Adgrv1	T	C	13: 81,578,253	D551G	possibly damaging	Het
Aldh3a2	A	G	11: 61,253,712	V340A	probably damaging	Het
Amy1	C	A	3: 113,558,364	C393F	probably damaging	Het
Ankrd16	T	C	2: 11,789,734	V310A	probably benign	Het
Arhgef15	T	C	11: 68,947,237	S686G	probably null	Het
Arid4b	T	A	13: 14,186,929	N659K	probably benign	Het
Asz1	C	T	6: 18,076,620	R191Q	probably benign	Het
Atp2a3	A	G	11: 72,988,557	I947V	probably damaging	Het
AW011738	G	A	4: 156,203,512		probably benign	Het
Bfsp1	G	T	2: 143,827,291	T456K	probably benign	Het
Cdc25c	T	C	18: 34,750,811	T40A	possibly damaging	Het
Cdh7	G	A	1: 110,108,839	C583Y	probably damaging	Het
Cfap54	A	T	10: 92,821,106	L3028Q	probably damaging	Het
Chd1	A	G	17: 15,754,951	S1088G	probably benign	Het
Chd1	A	T	17: 15,770,268	H1694L	possibly damaging	Het
Cstf3	G	T	2: 104,663,390	E580*	probably null	Het
Dip2a	A	T	10: 76,294,523	M622K	possibly damaging	Het
Dlgap1	A	T	17: 70,815,207	H877L	probably damaging	Het
Egfr	G	T	11: 16,884,260	M122I	probably benign	Het
Etfbkmt	T	A	6: 149,147,206	D114E	probably damaging	Het
Eva1c	T	C	16: 90,869,663	L158P	probably damaging	Het
Exo1	G	A	1: 175,892,976	V287M	probably damaging	Het
Fam171a1	T	C	2: 3,225,617	Y471H	probably damaging	Het
Fermt1	T	A	2: 132,942,066	T8S	probably benign	Het
Fgfr2	G	T	7: 130,167,774	P630T	probably damaging	Het
Fmo5	G	A	3: 97,651,622	G466E	probably damaging	Het
Gm5155	A	C	7: 17,902,692	E231D	probably benign	Het
Hcn4	A	G	9: 58,843,932	I280M	probably benign	Het
Ifi208	A	C	1: 173,683,608	K443T	probably benign	Het
Irs3	A	G	5: 137,644,741	F145S	probably benign	Het
Kirrel	T	A	3: 87,089,595	H300L	probably benign	Het
Krit1	A	G	5: 3,819,326	Q340R	probably damaging	Het
Lipo5	T	C	19: 33,467,749	D140G	unknown	Het
Lrrtm4	A	T	6: 80,022,700	Q365L	probably benign	Het
Lrwd1	G	T	5: 136,131,150	T353K	possibly damaging	Het
Lsm14a	A	T	7: 34,353,729	S240R	possibly damaging	Het
Map3k5	A	G	10: 20,108,238	I870V	probably benign	Het
Mmp17	A	T	5: 129,594,614	E76V	probably null	Het
Mphosph10	A	G	7: 64,388,984	F272L	probably damaging	Het
Myh10	A	G	11: 68,764,245	K380R	probably damaging	Het
Myo3b	C	T	2: 70,426,888	P1282L	probably damaging	Het
Nemp2	T	C	1: 52,643,079		probably benign	Het
Ola1	T	C	2: 73,199,434	I114V	probably damaging	Het
Olfr1066	T	A	2: 86,455,435	T279S	probably damaging	Het
Olfr140	T	A	2: 90,051,913	H137L	probably benign	Het
Pabpc4	T	G	4: 123,290,307	D204E	probably benign	Het
Pigr	A	T	1: 130,849,493	M679L	probably benign	Het
Pik3c2b	A	T	1: 133,070,408	M341L	possibly damaging	Het
Plin4	T	A	17: 56,106,132	T498S	probably benign	Het
Ppp2r5e	A	G	12: 75,515,685	S15P	possibly damaging	Het
Prdm13	T	C	4: 21,678,984	Y502C	probably damaging	Het
Ptprk	T	C	10: 28,592,054		probably null	Het
Rapgef6	T	C	11: 54,657,374	S505P	probably benign	Het
Rgmb	G	T	17: 15,820,728	S199*	probably null	Het
Rgsl1	T	C	1: 153,827,492	T173A	probably damaging	Het
Rhobtb1	G	T	10: 69,269,912	K102N	probably damaging	Het
Ripor2	A	T	13: 24,674,666	D147V	probably damaging	Het
Rsad2	A	T	12: 26,450,682	V202E	probably damaging	Het
Slc1a6	A	G	10: 78,793,307	N186S	probably damaging	Het
Soga1	G	A	2: 157,023,817	Q1127*	probably null	Het
Sorbs3	G	A	14: 70,184,896	R622*	probably null	Het
Spag9	C	A	11: 94,069,012	D342E	probably damaging	Het
Srgap3	T	C	6: 112,766,939	Y446C	probably damaging	Het
Thsd7b	C	T	1: 129,678,243	R574*	probably null	Het
Tmem74	A	T	15: 43,866,821	Y275*	probably null	Het
Topors	A	T	4: 40,262,541	S248T	possibly damaging	Het
Trpm1	A	T	7: 64,208,946	Y239F	probably benign	Het
Ttn	T	A	2: 76,718,183	Y30179F	possibly damaging	Het
Ugt2b34	A	T	5: 86,892,865	F399L	probably damaging	Het
Ush2a	A	T	1: 188,356,798	I317F	probably damaging	Het
Usp1	T	C	4: 98,934,618	V723A	probably benign	Het
Usp34	T	G	11: 23,343,616	L237V	probably damaging	Het
Vgf	A	T	5: 137,032,286	D434V	probably damaging	Het
Vmn1r179	A	G	7: 23,928,675	N97S	probably benign	Het
Vps13a	A	G	19: 16,710,387	L899P	possibly damaging	Het
Vps33b	A	T	7: 80,274,253	I41F	probably damaging	Het
Zap70	A	T	1: 36,778,218	H210L	probably damaging	Het
Zc3h8	T	C	2: 128,928,915	D300G	probably benign	Het
Zfp958	C	A	8: 4,626,196	H55N	possibly damaging	Het

Other mutations in Adcy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Adcy1	APN	11	7137385	missense	probably damaging	0.99
IGL01325:Adcy1	APN	11	7064102	missense	possibly damaging	0.58
IGL01531:Adcy1	APN	11	7169414	missense	possibly damaging	0.95
IGL01585:Adcy1	APN	11	7167143	missense	probably damaging	1.00
IGL01932:Adcy1	APN	11	7100565	splice site	probably benign
IGL01945:Adcy1	APN	11	7161891	missense	probably damaging	1.00
IGL02532:Adcy1	APN	11	7144737	missense	probably benign	0.26
IGL02649:Adcy1	APN	11	7167156	missense	probably damaging	1.00
IGL02658:Adcy1	APN	11	7138279	splice site	probably benign
IGL02813:Adcy1	APN	11	7146591	missense	possibly damaging	0.83
IGL02931:Adcy1	APN	11	7079012	missense	probably benign	0.19
IGL03116:Adcy1	APN	11	7150071	missense	probably benign
IGL03119:Adcy1	APN	11	7109051	missense	probably damaging	1.00
IGL03214:Adcy1	APN	11	7167054	splice site	probably benign
PIT4431001:Adcy1	UTSW	11	7064089	missense	possibly damaging	0.93
PIT4520001:Adcy1	UTSW	11	7167133	missense	probably damaging	1.00
R0032:Adcy1	UTSW	11	7144729	missense	possibly damaging	0.93
R0032:Adcy1	UTSW	11	7144729	missense	possibly damaging	0.93
R0080:Adcy1	UTSW	11	7149497	splice site	probably benign
R0082:Adcy1	UTSW	11	7149497	splice site	probably benign
R0238:Adcy1	UTSW	11	7139162	missense	possibly damaging	0.80
R0238:Adcy1	UTSW	11	7139162	missense	possibly damaging	0.80
R0312:Adcy1	UTSW	11	7149538	missense	probably benign	0.08
R0569:Adcy1	UTSW	11	7146514	missense	probably benign	0.34
R1055:Adcy1	UTSW	11	7109075	missense	probably damaging	1.00
R1144:Adcy1	UTSW	11	7137400	missense	probably damaging	1.00
R1179:Adcy1	UTSW	11	7167054	splice site	probably null
R1245:Adcy1	UTSW	11	7169410	splice site	probably benign
R1467:Adcy1	UTSW	11	7138396	missense	probably damaging	0.97
R1467:Adcy1	UTSW	11	7138396	missense	probably damaging	0.97
R1823:Adcy1	UTSW	11	7161312	missense	probably benign	0.23
R1953:Adcy1	UTSW	11	7078991	missense	probably benign	0.01
R1957:Adcy1	UTSW	11	7161945	missense	probably benign	0.00
R2029:Adcy1	UTSW	11	7139142	missense	probably benign	0.10
R2051:Adcy1	UTSW	11	7161885	nonsense	probably null
R2483:Adcy1	UTSW	11	7130348	missense	probably benign	0.01
R3108:Adcy1	UTSW	11	7169453	missense	probably damaging	1.00
R3623:Adcy1	UTSW	11	7130348	missense	probably benign	0.01
R3624:Adcy1	UTSW	11	7130348	missense	probably benign	0.01
R4082:Adcy1	UTSW	11	7064117	missense	probably damaging	1.00
R4159:Adcy1	UTSW	11	7063889	missense	probably damaging	1.00
R4470:Adcy1	UTSW	11	7144804	missense	probably benign	0.17
R4472:Adcy1	UTSW	11	7130369	missense	probably damaging	1.00
R4951:Adcy1	UTSW	11	7138336	missense	possibly damaging	0.83
R4997:Adcy1	UTSW	11	7161298	missense	probably benign	0.25
R5237:Adcy1	UTSW	11	7149553	missense	probably benign	0.00
R5288:Adcy1	UTSW	11	7161351	missense	probably benign	0.01
R5341:Adcy1	UTSW	11	7130375	missense	probably damaging	0.99
R5379:Adcy1	UTSW	11	7146532	missense	probably damaging	1.00
R5592:Adcy1	UTSW	11	7139088	nonsense	probably null
R5677:Adcy1	UTSW	11	7161914	missense	probably damaging	1.00
R5680:Adcy1	UTSW	11	7109020	missense	probably damaging	1.00
R5753:Adcy1	UTSW	11	7130300	missense	probably damaging	1.00
R5888:Adcy1	UTSW	11	7139095	missense	possibly damaging	0.66
R5943:Adcy1	UTSW	11	7161337	missense	probably damaging	1.00
R6435:Adcy1	UTSW	11	7161367	missense	possibly damaging	0.60
R6931:Adcy1	UTSW	11	7150884	missense	possibly damaging	0.81
R6998:Adcy1	UTSW	11	7079026	missense	probably damaging	1.00
R7368:Adcy1	UTSW	11	7144765	missense	probably damaging	1.00
R7378:Adcy1	UTSW	11	7169543	missense	possibly damaging	0.56
R7393:Adcy1	UTSW	11	7137381	missense	probably damaging	1.00
R7500:Adcy1	UTSW	11	7144762	missense	probably damaging	1.00
R7529:Adcy1	UTSW	11	7139157	missense	probably damaging	0.98
R8681:Adcy1	UTSW	11	7161328	missense	probably damaging	1.00
R8682:Adcy1	UTSW	11	7161328	missense	probably damaging	1.00
R8683:Adcy1	UTSW	11	7161328	missense	probably damaging	1.00
R8831:Adcy1	UTSW	11	7161362	missense	probably benign	0.02
R8859:Adcy1	UTSW	11	7161877	missense	probably benign	0.06
R8894:Adcy1	UTSW	11	7137375	missense	probably damaging	0.97
R8904:Adcy1	UTSW	11	7109075	missense	probably damaging	1.00
R8970:Adcy1	UTSW	11	7149983	missense	probably benign	0.00
R9037:Adcy1	UTSW	11	7137325	missense	possibly damaging	0.78
R9172:Adcy1	UTSW	11	7160317	missense	probably damaging	0.97
R9303:Adcy1	UTSW	11	7144766	missense	probably damaging	1.00
R9448:Adcy1	UTSW	11	7149575	missense	possibly damaging	0.94
R9694:Adcy1	UTSW	11	7144774	missense	probably damaging	1.00
R9763:Adcy1	UTSW	11	7064126	missense	probably damaging	1.00
X0027:Adcy1	UTSW	11	7161930	missense	possibly damaging	0.47
Z1088:Adcy1	UTSW	11	7150019	missense	probably benign	0.19
Z1176:Adcy1	UTSW	11	7109098	missense	probably damaging	1.00
Z1176:Adcy1	UTSW	11	7149536	missense	probably damaging	0.99
Z1176:Adcy1	UTSW	11	7150857	missense	probably damaging	0.96
Z1176:Adcy1	UTSW	11	7150858	missense	possibly damaging	0.62
Z1177:Adcy1	UTSW	11	7100642	nonsense	probably null
Z1177:Adcy1	UTSW	11	7144802	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACCAATGTCCGATCCCTG -3'
(R):5'- GTTGACCTTGAACACCTGTCCC -3'

Sequencing Primer
(F):5'- AATGTCCGATCCCTGCAGGTG -3'
(R):5'- TGTCCCACCTTCAGAACCTCAG -3'

Posted On

2016-07-22