Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02658:Adcy1'

302455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

I-AC, D11Bwg1392e, AC1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

7063489-7178506 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 7138279 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020706

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,952,560	Y946F	probably benign	Het
Abcb4	T	G	5: 8,934,240	W657G	probably benign	Het
Arap3	A	G	18: 37,990,994	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,311,281	Y89S	probably benign	Het
Carns1	C	T	19: 4,173,084	C47Y	probably benign	Het
Chd5	C	T	4: 152,360,593	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,980,824	T481A	probably benign	Het
Cyth1	T	A	11: 118,182,246	D264V	probably damaging	Het
Dph1	C	A	11: 75,180,635	L311F	probably benign	Het
Eif3l	A	G	15: 79,076,942	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,668,718	F3Y	probably benign	Het
Hcn4	A	T	9: 58,859,465	T770S	unknown	Het
Hydin	A	T	8: 110,413,276	I726F	possibly damaging	Het
Klf2	A	G	8: 72,319,096	I7V	probably benign	Het
Ltn1	A	T	16: 87,415,774	L633H	probably damaging	Het
Ncoa3	A	G	2: 166,051,393	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,449,713	D248E	probably benign	Het
Nyap1	A	G	5: 137,735,484	I429T	probably damaging	Het
Olfr1370	G	A	13: 21,072,812	T163I	probably damaging	Het
Olfr285	A	G	15: 98,313,356	S65P	probably damaging	Het
Olfr338	T	A	2: 36,377,060	C95S	probably damaging	Het
Olfr578	A	G	7: 102,984,330	M278T	probably benign	Het
Olfr720	T	A	14: 14,175,732	M117L	possibly damaging	Het
Pcf11	T	C	7: 92,647,046	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,972,326	F217I	probably benign	Het
Plxna4	A	T	6: 32,185,411	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,524,667	Y239C	probably benign	Het
Psma6	A	G	12: 55,412,211	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,562,702	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,957,479	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,788,248	N345I	probably benign	Het
Sncaip	T	C	18: 52,894,955	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,190,092	I864N	probably damaging	Het
Spag5	C	T	11: 78,321,331	Q1062*	probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Szrd1	A	G	4: 141,139,746		probably benign	Het
Tns2	C	A	15: 102,107,796		probably benign	Het
Trcg1	C	A	9: 57,242,228	S361*	probably null	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,422,893	V124A	probably damaging	Het
Ttf1	T	C	2: 29,074,011	I633T	probably damaging	Het
Zfp691	A	G	4: 119,170,507	F176S	probably 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
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
R5304:Adcy1	UTSW	11	7064198	missense	probably benign	0.00
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
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

Posted On

2015-04-16