Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02419:Adcy2'

292590

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

68620043-68999541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68982363 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 135 (V135A)

Ref Sequence

ENSEMBL: ENSMUSP00000022013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022013]

Predicted Effect

probably benign
Transcript: ENSMUST00000022013
AA Change: V135A

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: V135A

Domain	Start	End	E-Value	Type
low complexity region	16	29	N/A	INTRINSIC
low complexity region	60	74	N/A	INTRINSIC
CYCc	239	447	6.62e-66	SMART
Pfam:DUF1053	499	604	2.6e-41	PFAM
transmembrane domain	631	653	N/A	INTRINSIC
low complexity region	659	673	N/A	INTRINSIC
transmembrane domain	684	706	N/A	INTRINSIC
transmembrane domain	738	760	N/A	INTRINSIC
transmembrane domain	767	789	N/A	INTRINSIC
transmembrane domain	809	826	N/A	INTRINSIC
CYCc	851	1065	5.49e-40	SMART

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 family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	C	8: 87,586,099	F171L	possibly damaging	Het
Abca2	A	G	2: 25,446,837	N2291D	probably benign	Het
Adamts9	A	G	6: 92,796,997	V1145A	probably benign	Het
Akr1c14	A	T	13: 4,080,617		probably null	Het
Aptx	G	T	4: 40,691,032	A229E	probably benign	Het
Ash1l	T	C	3: 88,985,565	S1584P	probably benign	Het
Catsper3	A	T	13: 55,808,068	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,134,043	D27G	probably damaging	Het
Cobll1	A	T	2: 65,151,048	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,420,584	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777		probably null	Het
Cyp11b2	A	T	15: 74,851,055	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,315,688	I162T	probably damaging	Het
Efcab9	T	C	11: 32,522,950	I166V	probably benign	Het
Ep400	A	T	5: 110,697,376		probably null	Het
Gata6	G	A	18: 11,054,220	G50R	probably damaging	Het
Gm9631	G	A	11: 121,943,652			Het
Grifin	T	C	5: 140,564,700	T20A	probably benign	Het
Hnf4a	A	T	2: 163,566,282	I352F	probably damaging	Het
Ifi204	T	C	1: 173,749,380	T552A	possibly damaging	Het
Ifi205	C	T	1: 174,017,614	A201T	probably damaging	Het
Kcnk6	A	G	7: 29,225,202	V259A	probably benign	Het
Kif21b	A	G	1: 136,151,267	N451S	probably benign	Het
Klhl24	T	A	16: 20,107,368	Y215*	probably null	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mical1	A	G	10: 41,482,277	K429E	possibly damaging	Het
Misp	A	G	10: 79,827,871		probably benign	Het
Mon2	T	C	10: 123,016,447	N1007S	probably benign	Het
Olfr1420	A	T	19: 11,896,822	Y267F	probably benign	Het
Olfr228	T	A	2: 86,482,915	I276F	probably damaging	Het
Olfr307	C	A	7: 86,335,662	V245F	probably damaging	Het
Olfr624	A	T	7: 103,670,475	C185*	probably null	Het
Pex6	C	A	17: 46,724,435	T840N	possibly damaging	Het
Prox1	C	T	1: 190,161,130	A373T	probably benign	Het
Rapgef3	G	T	15: 97,750,290	N679K	probably benign	Het
Serpina3n	T	C	12: 104,413,518	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,426,338	F23S	probably benign	Het
Slc44a3	T	C	3: 121,490,257	T449A	probably benign	Het
Smad6	G	A	9: 63,953,518		probably benign	Het
Sos2	C	T	12: 69,616,990	M573I	probably benign	Het
St8sia1	A	T	6: 142,828,935	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 85,071,781	S1674P	possibly damaging	Het
Trim47	G	A	11: 116,106,201	R576W	probably damaging	Het
Wdr86	A	T	5: 24,722,704	I79N	probably damaging	Het
Wwp2	T	A	8: 107,549,815	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,119,788	T428A	probably benign	Het
Zfp592	A	G	7: 81,038,245	E973G	probably damaging	Het

Other mutations in Adcy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Adcy2	APN	13	68620796	missense	probably damaging	1.00
IGL01074:Adcy2	APN	13	68796654	missense	possibly damaging	0.93
IGL01394:Adcy2	APN	13	68982402	missense	probably damaging	1.00
IGL01820:Adcy2	APN	13	68738545	splice site	probably null
IGL02048:Adcy2	APN	13	68888067	missense	possibly damaging	0.46
IGL02378:Adcy2	APN	13	68730292	missense	probably damaging	1.00
IGL02896:Adcy2	APN	13	68727872	missense	probably damaging	1.00
IGL02953:Adcy2	APN	13	68729328	missense	probably damaging	1.00
IGL03358:Adcy2	APN	13	68729277	missense	probably damaging	1.00
IGL03387:Adcy2	APN	13	68730367	missense	probably damaging	1.00
PIT4305001:Adcy2	UTSW	13	68678602	missense	probably benign	0.00
PIT4366001:Adcy2	UTSW	13	68709990	critical splice donor site	probably benign
R0044:Adcy2	UTSW	13	68727899	missense	possibly damaging	0.94
R0044:Adcy2	UTSW	13	68727899	missense	possibly damaging	0.94
R0083:Adcy2	UTSW	13	68651935	missense	probably damaging	0.99
R0108:Adcy2	UTSW	13	68651935	missense	probably damaging	0.99
R0269:Adcy2	UTSW	13	68678606	nonsense	probably null
R0369:Adcy2	UTSW	13	68671900	missense	probably benign	0.00
R0480:Adcy2	UTSW	13	68732112	missense	probably damaging	1.00
R0550:Adcy2	UTSW	13	68982361	missense	probably benign	0.23
R0551:Adcy2	UTSW	13	68796539	missense	probably damaging	1.00
R0617:Adcy2	UTSW	13	68678606	nonsense	probably null
R0634:Adcy2	UTSW	13	68727945	missense	possibly damaging	0.48
R0715:Adcy2	UTSW	13	68888042	missense	probably benign	0.08
R0723:Adcy2	UTSW	13	68999129	missense	probably damaging	1.00
R1136:Adcy2	UTSW	13	68730317	missense	probably damaging	1.00
R1271:Adcy2	UTSW	13	68642498	missense	probably damaging	1.00
R1349:Adcy2	UTSW	13	68668533	missense	probably damaging	0.98
R1372:Adcy2	UTSW	13	68668533	missense	probably damaging	0.98
R1390:Adcy2	UTSW	13	68657393	missense	possibly damaging	0.94
R1495:Adcy2	UTSW	13	68796535	missense	probably benign	0.30
R1706:Adcy2	UTSW	13	68720746	missense	probably damaging	1.00
R1839:Adcy2	UTSW	13	68689261	splice site	probably null
R2004:Adcy2	UTSW	13	68796603	missense	probably damaging	1.00
R2235:Adcy2	UTSW	13	68668492	missense	probably damaging	0.98
R2242:Adcy2	UTSW	13	68689341	missense	probably benign	0.00
R2940:Adcy2	UTSW	13	68730305	missense	probably damaging	1.00
R3624:Adcy2	UTSW	13	68642531	missense	probably damaging	0.99
R3689:Adcy2	UTSW	13	68630969	missense	probably damaging	1.00
R4685:Adcy2	UTSW	13	68727905	missense	probably benign	0.32
R4695:Adcy2	UTSW	13	68727843	missense	possibly damaging	0.67
R5213:Adcy2	UTSW	13	68620823	missense	possibly damaging	0.61
R5645:Adcy2	UTSW	13	68729202	splice site	probably null
R5687:Adcy2	UTSW	13	68620819	nonsense	probably null
R5687:Adcy2	UTSW	13	68642569	missense	probably damaging	1.00
R5833:Adcy2	UTSW	13	68738603	missense	probably benign
R5846:Adcy2	UTSW	13	68738588	missense	probably damaging	0.99
R5894:Adcy2	UTSW	13	68625852	missense	probably damaging	1.00
R6111:Adcy2	UTSW	13	68729241	missense	probably damaging	0.99
R6311:Adcy2	UTSW	13	68625792	missense	probably damaging	1.00
R6642:Adcy2	UTSW	13	68620826	missense	probably damaging	1.00
R6644:Adcy2	UTSW	13	68668552	missense	possibly damaging	0.88
R6899:Adcy2	UTSW	13	68982381	missense	probably damaging	0.99
R6917:Adcy2	UTSW	13	68620757	missense	possibly damaging	0.68
R6950:Adcy2	UTSW	13	68888065	missense	possibly damaging	0.93
R7006:Adcy2	UTSW	13	68888020	missense	probably damaging	1.00
R7186:Adcy2	UTSW	13	68668639	missense	probably damaging	1.00
R7311:Adcy2	UTSW	13	68630954	missense	probably damaging	1.00
R7348:Adcy2	UTSW	13	68734675	missense	possibly damaging	0.79
R7440:Adcy2	UTSW	13	68796667	missense	probably damaging	0.97
R7463:Adcy2	UTSW	13	68730280	missense	probably damaging	1.00
R7827:Adcy2	UTSW	13	68689281	missense	probably damaging	1.00
R7919:Adcy2	UTSW	13	68887972	missense	probably benign	0.08
R8144:Adcy2	UTSW	13	68734635	nonsense	probably null
R8256:Adcy2	UTSW	13	68620761	missense	probably damaging	1.00
R8556:Adcy2	UTSW	13	68630975	missense	possibly damaging	0.61

Posted On

2015-04-16