Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Adcy1'

74221

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

7063489-7178506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7064102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 168 (V168A)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

AlphaFold

O88444

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020706
AA Change: V168A

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: V168A

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 60,853,533	T127A	probably damaging	Het
Acrv1	T	A	9: 36,698,514	M227K	probably benign	Het
Adam22	T	C	5: 8,127,333	N592S	probably benign	Het
Adamts15	T	A	9: 30,921,688	I184F	possibly damaging	Het
Arl6ip5	T	C	6: 97,232,540	F179L	probably benign	Het
Asxl2	G	T	12: 3,427,172	R6L	probably damaging	Het
Btaf1	T	A	19: 37,004,649		probably benign	Het
Ccdc136	T	C	6: 29,412,950	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229	S268G	probably benign	Het
Crtc3	C	T	7: 80,677,368	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,122,699	A421E	probably benign	Het
Fhod1	A	T	8: 105,331,649	M825K	probably benign	Het
Gjb2	T	C	14: 57,100,221	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,884		noncoding transcript	Het
Herpud2	A	G	9: 25,113,911	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,134,006	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,381,208	F578L	probably benign	Het
Kdm7a	T	G	6: 39,158,309		probably benign	Het
Krt76	A	T	15: 101,884,888	S572T	unknown	Het
Lrrcc1	T	C	3: 14,536,541		probably null	Het
March9	A	C	10: 127,057,590	V183G	probably damaging	Het
Mkl2	T	C	16: 13,401,224	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251	D123E	probably benign	Het
Nhlh2	T	G	3: 102,013,026	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,436,351		probably benign	Het
Npas1	C	T	7: 16,463,322	G206D	probably benign	Het
Olfr651	T	C	7: 104,553,689	F257L	probably damaging	Het
Olfr994	C	A	2: 85,430,295	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,309,623	V662E	probably damaging	Het
Plxna3	G	A	X: 74,335,794	G758S	probably damaging	Het
Prdm15	T	A	16: 97,806,517	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,432,446		probably benign	Het
Ranbp2	T	A	10: 58,476,298	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,298,529	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,988,618	G270R	probably damaging	Het
Rcl1	A	G	19: 29,121,262		probably null	Het
Rpl23a-ps1	T	C	1: 45,981,633		noncoding transcript	Het
Serpinb7	T	G	1: 107,435,380	H91Q	probably damaging	Het
Shd	C	T	17: 55,972,839	P111S	possibly damaging	Het
Slc35e1	G	T	8: 72,483,758		probably benign	Het
Srgap3	C	T	6: 112,775,686	R279H	probably damaging	Het
Sstr4	G	A	2: 148,395,552	E28K	probably benign	Het
Stip1	T	C	19: 7,021,096		probably benign	Het
Syne2	A	G	12: 75,926,514	E1097G	probably benign	Het
Tbcd	T	A	11: 121,540,993	V489E	probably damaging	Het
Tnks2	T	A	19: 36,871,633	S516R	probably benign	Het
Trmt44	T	A	5: 35,568,803	R343S	possibly damaging	Het
Trps1	A	G	15: 50,846,814	S47P	probably benign	Het
Ubr3	A	C	2: 69,917,097	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,574,961	Q48*	probably null	Het
Vat1	T	C	11: 101,465,715	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,194,247	T636A	possibly damaging	Het
Zfp423	A	T	8: 87,781,611		probably null	Het
Zfp667	C	A	7: 6,290,546	T15N	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
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
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
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

Posted On

2013-10-07