Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02813:Adcy1'

360659

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 #

IGL02813

Quality Score

Status

Chromosome

Chromosomal Location

7013489-7128506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7096591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 660 (Q660K)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

AlphaFold

O88444

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020706
AA Change: Q660K

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: Q660K

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	A	C	12: 52,563,748 (GRCm39)	T240P	probably benign	Het
Arhgef7	C	T	8: 11,850,767 (GRCm39)		probably benign	Het
Cttnbp2	C	A	6: 18,367,537 (GRCm39)	V1594F	possibly damaging	Het
Cyp2a22	G	T	7: 26,635,859 (GRCm39)	Q235K	probably benign	Het
Dennd11	C	T	6: 40,395,473 (GRCm39)	V212I	probably benign	Het
Dynlt5	A	G	4: 102,849,769 (GRCm39)	N64S	probably damaging	Het
Ecm1	G	A	3: 95,644,098 (GRCm39)	P169S	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Ern1	T	C	11: 106,314,251 (GRCm39)	D183G	probably damaging	Het
Gpat2	T	C	2: 127,276,375 (GRCm39)	V635A	possibly damaging	Het
Gria1	A	G	11: 57,174,410 (GRCm39)	N564S	probably damaging	Het
Grtp1	A	C	8: 13,236,945 (GRCm39)	I173S	possibly damaging	Het
Hsd17b4	A	G	18: 50,261,415 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,569,229 (GRCm39)		probably null	Het
Mark4	A	T	7: 19,181,181 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,453,691 (GRCm39)	D207G	probably benign	Het
Mrgprd	A	G	7: 144,875,251 (GRCm39)	M41V	probably benign	Het
Myo1g	T	C	11: 6,468,743 (GRCm39)	*66W	probably null	Het
Neto2	C	A	8: 86,417,515 (GRCm39)	D30Y	probably benign	Het
Nlrp6	A	T	7: 140,503,333 (GRCm39)	I450F	possibly damaging	Het
Nup155	T	A	15: 8,159,605 (GRCm39)		probably benign	Het
Or4c11c	A	G	2: 88,661,495 (GRCm39)	I11M	probably benign	Het
Pcdhb10	T	G	18: 37,546,815 (GRCm39)	S630R	possibly damaging	Het
Rwdd4a	T	C	8: 47,990,396 (GRCm39)		probably null	Het
Slc12a7	T	A	13: 73,961,795 (GRCm39)		probably benign	Het
Slc22a20	C	T	19: 6,034,886 (GRCm39)	V192I	probably benign	Het
Slc9a2	T	A	1: 40,781,829 (GRCm39)	S353T	probably damaging	Het
Srgap3	A	G	6: 112,708,441 (GRCm39)	F753L	probably damaging	Het
Tcea1	C	T	1: 4,956,979 (GRCm39)	T93I	probably benign	Het
Tecpr2	A	T	12: 110,899,626 (GRCm39)	S665C	probably damaging	Het
Tor4a	C	A	2: 25,084,761 (GRCm39)	E381*	probably null	Het
Vdr	A	G	15: 97,767,562 (GRCm39)	Y143H	probably benign	Het
Vmn2r91	A	C	17: 18,356,348 (GRCm39)	T672P	possibly damaging	Het
Wdr41	A	G	13: 95,131,753 (GRCm39)		probably null	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
IGL02649:Adcy1	APN	11	7,117,156 (GRCm39)	missense	probably damaging	1.00
IGL02658:Adcy1	APN	11	7,088,279 (GRCm39)	splice site	probably benign
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

2015-12-18