Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02649:Adcy1'

302056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

AC1, I-AC, D11Bwg1392e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02649

Quality Score

Status

Chromosome

Chromosomal Location

7013489-7128506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7117156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1008 (M1008L)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

AlphaFold

O88444

Predicted Effect

probably damaging
Transcript: ENSMUST00000020706
AA Change: M1008L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: M1008L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135398

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	T	11: 116,486,472 (GRCm39)	I4F	probably benign	Het
Adamts17	T	G	7: 66,499,626 (GRCm39)		probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrnl1	T	G	19: 57,638,873 (GRCm39)		probably benign	Het
Brd3	T	A	2: 27,344,362 (GRCm39)	E456V	probably damaging	Het
Cabin1	A	T	10: 75,573,252 (GRCm39)	L712H	probably damaging	Het
Ccna1	T	A	3: 54,961,807 (GRCm39)	T38S	probably damaging	Het
Chadl	T	A	15: 81,580,059 (GRCm39)	I59F	probably benign	Het
Chmp3	T	C	6: 71,529,417 (GRCm39)	M27T	possibly damaging	Het
Clcn1	C	T	6: 42,275,763 (GRCm39)	T295I	probably damaging	Het
Col6a6	A	G	9: 105,604,369 (GRCm39)		probably null	Het
Dennd2a	T	A	6: 39,447,290 (GRCm39)	H776L	probably benign	Het
Dimt1	G	A	13: 107,085,219 (GRCm39)	R55K	probably benign	Het
Dlg5	T	A	14: 24,196,319 (GRCm39)	D1626V	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Hectd4	T	C	5: 121,487,465 (GRCm39)	S3487P	possibly damaging	Het
Hivep1	T	C	13: 42,310,787 (GRCm39)	V1009A	possibly damaging	Het
Ifna12	A	T	4: 88,521,091 (GRCm39)	V152E	probably damaging	Het
Igf2r	A	T	17: 12,930,974 (GRCm39)	C903S	possibly damaging	Het
Ipo9	T	C	1: 135,313,672 (GRCm39)	D1002G	possibly damaging	Het
Isyna1	T	C	8: 71,048,904 (GRCm39)	S328P	probably damaging	Het
Itprid2	T	C	2: 79,472,303 (GRCm39)		probably benign	Het
Lamc1	G	A	1: 153,122,788 (GRCm39)	T764I	possibly damaging	Het
Lta4h	T	C	10: 93,308,831 (GRCm39)	V377A	probably benign	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Myo3a	A	T	2: 22,328,418 (GRCm39)	L329F	probably benign	Het
Nlgn2	T	C	11: 69,716,628 (GRCm39)	T638A	probably benign	Het
Oasl2	A	G	5: 115,035,753 (GRCm39)	T10A	probably damaging	Het
Or14j8	A	T	17: 38,263,864 (GRCm39)	F17Y	probably damaging	Het
Or5k1	T	A	16: 58,617,713 (GRCm39)	R165S	probably damaging	Het
Pde10a	A	T	17: 9,172,604 (GRCm39)	N296I	probably damaging	Het
Plb1	A	G	5: 32,519,912 (GRCm39)	I1385M	probably benign	Het
Pld1	T	C	3: 28,141,378 (GRCm39)	V647A	probably damaging	Het
Pnp	T	C	14: 51,185,303 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,905,327 (GRCm39)	I1656K	probably damaging	Het
Rimbp3	G	T	16: 17,027,472 (GRCm39)	E299*	probably null	Het
Sbsn	C	A	7: 30,452,683 (GRCm39)	A566D	probably damaging	Het
Sh3rf1	T	A	8: 61,816,225 (GRCm39)	M494K	probably damaging	Het
Slc2a2	T	A	3: 28,772,885 (GRCm39)	V226E	probably damaging	Het
Smarca2	T	A	19: 26,617,986 (GRCm39)	I339N	possibly damaging	Het
Tenm2	G	T	11: 36,097,912 (GRCm39)	S445R	possibly damaging	Het
Tlcd5	C	A	9: 43,022,783 (GRCm39)	K190N	probably benign	Het
Tnip2	A	T	5: 34,671,075 (GRCm39)	L56Q	probably damaging	Het
Trpv1	C	T	11: 73,141,612 (GRCm39)	S485F	probably damaging	Het
Vmn2r23	T	C	6: 123,681,437 (GRCm39)	M115T	probably benign	Het
Zbtb38	G	A	9: 96,568,672 (GRCm39)	T804I	probably damaging	Het
Zfhx3	T	C	8: 109,520,167 (GRCm39)	S430P	possibly damaging	Het

Other mutations in Adcy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Adcy1	APN	11	7,087,385 (GRCm39)	missense	probably damaging	0.99
IGL01325:Adcy1	APN	11	7,014,102 (GRCm39)	missense	possibly damaging	0.58
IGL01531:Adcy1	APN	11	7,119,414 (GRCm39)	missense	possibly damaging	0.95
IGL01585:Adcy1	APN	11	7,117,143 (GRCm39)	missense	probably damaging	1.00
IGL01932:Adcy1	APN	11	7,050,565 (GRCm39)	splice site	probably benign
IGL01945:Adcy1	APN	11	7,111,891 (GRCm39)	missense	probably damaging	1.00
IGL02532:Adcy1	APN	11	7,094,737 (GRCm39)	missense	probably benign	0.26
IGL02658:Adcy1	APN	11	7,088,279 (GRCm39)	splice site	probably benign
IGL02813:Adcy1	APN	11	7,096,591 (GRCm39)	missense	possibly damaging	0.83
IGL02931:Adcy1	APN	11	7,029,012 (GRCm39)	missense	probably benign	0.19
IGL03116:Adcy1	APN	11	7,100,071 (GRCm39)	missense	probably benign
IGL03119:Adcy1	APN	11	7,059,051 (GRCm39)	missense	probably damaging	1.00
IGL03214:Adcy1	APN	11	7,117,054 (GRCm39)	splice site	probably benign
PIT4431001:Adcy1	UTSW	11	7,014,089 (GRCm39)	missense	possibly damaging	0.93
PIT4520001:Adcy1	UTSW	11	7,117,133 (GRCm39)	missense	probably damaging	1.00
R0032:Adcy1	UTSW	11	7,094,729 (GRCm39)	missense	possibly damaging	0.93
R0032:Adcy1	UTSW	11	7,094,729 (GRCm39)	missense	possibly damaging	0.93
R0080:Adcy1	UTSW	11	7,099,497 (GRCm39)	splice site	probably benign
R0082:Adcy1	UTSW	11	7,099,497 (GRCm39)	splice site	probably benign
R0238:Adcy1	UTSW	11	7,089,162 (GRCm39)	missense	possibly damaging	0.80
R0238:Adcy1	UTSW	11	7,089,162 (GRCm39)	missense	possibly damaging	0.80
R0312:Adcy1	UTSW	11	7,099,538 (GRCm39)	missense	probably benign	0.08
R0569:Adcy1	UTSW	11	7,096,514 (GRCm39)	missense	probably benign	0.34
R1055:Adcy1	UTSW	11	7,059,075 (GRCm39)	missense	probably damaging	1.00
R1144:Adcy1	UTSW	11	7,087,400 (GRCm39)	missense	probably damaging	1.00
R1179:Adcy1	UTSW	11	7,117,054 (GRCm39)	splice site	probably null
R1245:Adcy1	UTSW	11	7,119,410 (GRCm39)	splice site	probably benign
R1467:Adcy1	UTSW	11	7,088,396 (GRCm39)	missense	probably damaging	0.97
R1467:Adcy1	UTSW	11	7,088,396 (GRCm39)	missense	probably damaging	0.97
R1823:Adcy1	UTSW	11	7,111,312 (GRCm39)	missense	probably benign	0.23
R1953:Adcy1	UTSW	11	7,028,991 (GRCm39)	missense	probably benign	0.01
R1957:Adcy1	UTSW	11	7,111,945 (GRCm39)	missense	probably benign	0.00
R2029:Adcy1	UTSW	11	7,089,142 (GRCm39)	missense	probably benign	0.10
R2051:Adcy1	UTSW	11	7,111,885 (GRCm39)	nonsense	probably null
R2483:Adcy1	UTSW	11	7,080,348 (GRCm39)	missense	probably benign	0.01
R3108:Adcy1	UTSW	11	7,119,453 (GRCm39)	missense	probably damaging	1.00
R3623:Adcy1	UTSW	11	7,080,348 (GRCm39)	missense	probably benign	0.01
R3624:Adcy1	UTSW	11	7,080,348 (GRCm39)	missense	probably benign	0.01
R4082:Adcy1	UTSW	11	7,014,117 (GRCm39)	missense	probably damaging	1.00
R4159:Adcy1	UTSW	11	7,013,889 (GRCm39)	missense	probably damaging	1.00
R4470:Adcy1	UTSW	11	7,094,804 (GRCm39)	missense	probably benign	0.17
R4472:Adcy1	UTSW	11	7,080,369 (GRCm39)	missense	probably damaging	1.00
R4951:Adcy1	UTSW	11	7,088,336 (GRCm39)	missense	possibly damaging	0.83
R4997:Adcy1	UTSW	11	7,111,298 (GRCm39)	missense	probably benign	0.25
R5237:Adcy1	UTSW	11	7,099,553 (GRCm39)	missense	probably benign	0.00
R5288:Adcy1	UTSW	11	7,111,351 (GRCm39)	missense	probably benign	0.01
R5304:Adcy1	UTSW	11	7,014,198 (GRCm39)	missense	probably benign	0.00
R5341:Adcy1	UTSW	11	7,080,375 (GRCm39)	missense	probably damaging	0.99
R5379:Adcy1	UTSW	11	7,096,532 (GRCm39)	missense	probably damaging	1.00
R5592:Adcy1	UTSW	11	7,089,088 (GRCm39)	nonsense	probably null
R5677:Adcy1	UTSW	11	7,111,914 (GRCm39)	missense	probably damaging	1.00
R5680:Adcy1	UTSW	11	7,059,020 (GRCm39)	missense	probably damaging	1.00
R5753:Adcy1	UTSW	11	7,080,300 (GRCm39)	missense	probably damaging	1.00
R5888:Adcy1	UTSW	11	7,089,095 (GRCm39)	missense	possibly damaging	0.66
R5943:Adcy1	UTSW	11	7,111,337 (GRCm39)	missense	probably damaging	1.00
R6435:Adcy1	UTSW	11	7,111,367 (GRCm39)	missense	possibly damaging	0.60
R6931:Adcy1	UTSW	11	7,100,884 (GRCm39)	missense	possibly damaging	0.81
R6998:Adcy1	UTSW	11	7,029,026 (GRCm39)	missense	probably damaging	1.00
R7368:Adcy1	UTSW	11	7,094,765 (GRCm39)	missense	probably damaging	1.00
R7378:Adcy1	UTSW	11	7,119,543 (GRCm39)	missense	possibly damaging	0.56
R7393:Adcy1	UTSW	11	7,087,381 (GRCm39)	missense	probably damaging	1.00
R7500:Adcy1	UTSW	11	7,094,762 (GRCm39)	missense	probably damaging	1.00
R7529:Adcy1	UTSW	11	7,089,157 (GRCm39)	missense	probably damaging	0.98
R8681:Adcy1	UTSW	11	7,111,328 (GRCm39)	missense	probably damaging	1.00
R8682:Adcy1	UTSW	11	7,111,328 (GRCm39)	missense	probably damaging	1.00
R8683:Adcy1	UTSW	11	7,111,328 (GRCm39)	missense	probably damaging	1.00
R8831:Adcy1	UTSW	11	7,111,362 (GRCm39)	missense	probably benign	0.02
R8859:Adcy1	UTSW	11	7,111,877 (GRCm39)	missense	probably benign	0.06
R8894:Adcy1	UTSW	11	7,087,375 (GRCm39)	missense	probably damaging	0.97
R8904:Adcy1	UTSW	11	7,059,075 (GRCm39)	missense	probably damaging	1.00
R8970:Adcy1	UTSW	11	7,099,983 (GRCm39)	missense	probably benign	0.00
R9037:Adcy1	UTSW	11	7,087,325 (GRCm39)	missense	possibly damaging	0.78
R9172:Adcy1	UTSW	11	7,110,317 (GRCm39)	missense	probably damaging	0.97
R9303:Adcy1	UTSW	11	7,094,766 (GRCm39)	missense	probably damaging	1.00
R9448:Adcy1	UTSW	11	7,099,575 (GRCm39)	missense	possibly damaging	0.94
R9694:Adcy1	UTSW	11	7,094,774 (GRCm39)	missense	probably damaging	1.00
R9763:Adcy1	UTSW	11	7,014,126 (GRCm39)	missense	probably damaging	1.00
X0027:Adcy1	UTSW	11	7,111,930 (GRCm39)	missense	possibly damaging	0.47
Z1088:Adcy1	UTSW	11	7,100,019 (GRCm39)	missense	probably benign	0.19
Z1176:Adcy1	UTSW	11	7,100,857 (GRCm39)	missense	probably damaging	0.96
Z1176:Adcy1	UTSW	11	7,099,536 (GRCm39)	missense	probably damaging	0.99
Z1176:Adcy1	UTSW	11	7,059,098 (GRCm39)	missense	probably damaging	1.00
Z1176:Adcy1	UTSW	11	7,100,858 (GRCm39)	missense	possibly damaging	0.62
Z1177:Adcy1	UTSW	11	7,094,802 (GRCm39)	missense	probably damaging	1.00
Z1177:Adcy1	UTSW	11	7,050,642 (GRCm39)	nonsense	probably null

Posted On

2015-04-16