Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01394:Adcy2'

79357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01394

Quality Score

Status

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69130521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 122 (V122A)

Ref Sequence

ENSEMBL: ENSMUSP00000022013 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022013
AA Change: V122A

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

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: V122A

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
4933402N03Rik	G	A	7: 130,747,960 (GRCm39)	Q11*	probably null	Het
Acot5	T	C	12: 84,122,262 (GRCm39)	I282T	probably benign	Het
Aldh16a1	A	C	7: 44,794,937 (GRCm39)	S511A	probably benign	Het
Arid3b	T	C	9: 57,702,317 (GRCm39)	E480G	probably damaging	Het
Baz2a	T	C	10: 127,954,514 (GRCm39)	V723A	possibly damaging	Het
Bmpr1b	A	G	3: 141,568,742 (GRCm39)		probably null	Het
Ccdc83	T	C	7: 89,873,209 (GRCm39)	E382G	probably damaging	Het
Cfap46	A	G	7: 139,246,895 (GRCm39)	Y349H	probably damaging	Het
Clpx	T	C	9: 65,217,495 (GRCm39)	V21A	probably damaging	Het
Clstn1	A	G	4: 149,719,239 (GRCm39)	N356S	possibly damaging	Het
Ctnnd1	A	G	2: 84,435,600 (GRCm39)		probably benign	Het
Dock1	A	G	7: 134,367,945 (GRCm39)	N505S	probably benign	Het
Eaf2	G	A	16: 36,630,928 (GRCm39)	P82S	probably damaging	Het
Fbxw26	T	C	9: 109,547,057 (GRCm39)	Y456C	probably benign	Het
Foxred2	T	C	15: 77,839,820 (GRCm39)	T157A	probably benign	Het
Fscb	A	T	12: 64,520,578 (GRCm39)	I296K	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,424 (GRCm39)		noncoding transcript	Het
Golgb1	A	G	16: 36,751,926 (GRCm39)	E3120G	probably damaging	Het
Ift140	A	G	17: 25,313,676 (GRCm39)	D1369G	probably benign	Het
Kcnk13	T	C	12: 100,027,921 (GRCm39)	V332A	probably benign	Het
Lama3	T	A	18: 12,664,983 (GRCm39)	D661E	probably null	Het
Lum	A	T	10: 97,404,834 (GRCm39)	D243V	probably damaging	Het
Mgat4c	A	G	10: 102,220,975 (GRCm39)	T86A	possibly damaging	Het
Mpdz	A	T	4: 81,210,728 (GRCm39)	V1706D	possibly damaging	Het
Myrfl	T	C	10: 116,658,592 (GRCm39)	Q455R	probably benign	Het
Or6k2	T	C	1: 173,986,423 (GRCm39)	F28S	probably damaging	Het
Or8c20	T	A	9: 38,261,101 (GRCm39)	S241T	possibly damaging	Het
Papolg	G	A	11: 23,817,235 (GRCm39)	T654I	probably benign	Het
Pappa2	G	A	1: 158,592,674 (GRCm39)		probably benign	Het
Plekhh2	C	T	17: 84,864,858 (GRCm39)	T82I	probably benign	Het
Prrc2a	A	G	17: 35,372,080 (GRCm39)	V1773A	probably benign	Het
Psmb8	G	T	17: 34,419,703 (GRCm39)	V186L	probably damaging	Het
Rin3	T	C	12: 102,339,862 (GRCm39)	V604A	probably damaging	Het
Rtn1	T	C	12: 72,355,190 (GRCm39)	D252G	probably benign	Het
Sdk1	C	T	5: 141,598,970 (GRCm39)	H212Y	probably benign	Het
Slc5a5	G	T	8: 71,342,032 (GRCm39)	Y307*	probably null	Het
Slc9a9	T	A	9: 95,005,090 (GRCm39)	L499Q	probably benign	Het
Snx8	C	A	5: 140,337,934 (GRCm39)	G237V	probably benign	Het
Spata18	T	A	5: 73,836,688 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,536,808 (GRCm39)	E417G	possibly damaging	Het
Ubr5	T	C	15: 38,009,875 (GRCm39)	D1034G	possibly damaging	Het
Upf2	A	G	2: 6,045,024 (GRCm39)		probably null	Het
Xrcc6	A	G	15: 81,909,862 (GRCm39)	K89R	possibly damaging	Het
Yeats2	T	C	16: 19,980,782 (GRCm39)	V237A	probably damaging	Het
Zdhhc6	A	G	19: 55,298,324 (GRCm39)	W178R	probably benign	Het
Zfp280b	C	A	10: 75,875,497 (GRCm39)	Q459K	probably damaging	Het
Zfp811	C	A	17: 33,016,794 (GRCm39)	K414N	probably damaging	Het

Other mutations in Adcy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Adcy2	APN	13	68,768,915 (GRCm39)	missense	probably damaging	1.00
IGL01074:Adcy2	APN	13	68,944,773 (GRCm39)	missense	possibly damaging	0.93
IGL01820:Adcy2	APN	13	68,886,664 (GRCm39)	splice site	probably null
IGL02048:Adcy2	APN	13	69,036,186 (GRCm39)	missense	possibly damaging	0.46
IGL02378:Adcy2	APN	13	68,878,411 (GRCm39)	missense	probably damaging	1.00
IGL02419:Adcy2	APN	13	69,130,482 (GRCm39)	missense	probably benign	0.40
IGL02896:Adcy2	APN	13	68,875,991 (GRCm39)	missense	probably damaging	1.00
IGL02953:Adcy2	APN	13	68,877,447 (GRCm39)	missense	probably damaging	1.00
IGL03358:Adcy2	APN	13	68,877,396 (GRCm39)	missense	probably damaging	1.00
IGL03387:Adcy2	APN	13	68,878,486 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Adcy2	UTSW	13	68,826,721 (GRCm39)	missense	probably benign	0.00
PIT4366001:Adcy2	UTSW	13	68,858,109 (GRCm39)	critical splice donor site	probably benign
R0044:Adcy2	UTSW	13	68,876,018 (GRCm39)	missense	possibly damaging	0.94
R0044:Adcy2	UTSW	13	68,876,018 (GRCm39)	missense	possibly damaging	0.94
R0083:Adcy2	UTSW	13	68,800,054 (GRCm39)	missense	probably damaging	0.99
R0108:Adcy2	UTSW	13	68,800,054 (GRCm39)	missense	probably damaging	0.99
R0269:Adcy2	UTSW	13	68,826,725 (GRCm39)	nonsense	probably null
R0369:Adcy2	UTSW	13	68,820,019 (GRCm39)	missense	probably benign	0.00
R0480:Adcy2	UTSW	13	68,880,231 (GRCm39)	missense	probably damaging	1.00
R0550:Adcy2	UTSW	13	69,130,480 (GRCm39)	missense	probably benign	0.23
R0551:Adcy2	UTSW	13	68,944,658 (GRCm39)	missense	probably damaging	1.00
R0617:Adcy2	UTSW	13	68,826,725 (GRCm39)	nonsense	probably null
R0634:Adcy2	UTSW	13	68,876,064 (GRCm39)	missense	possibly damaging	0.48
R0715:Adcy2	UTSW	13	69,036,161 (GRCm39)	missense	probably benign	0.08
R0723:Adcy2	UTSW	13	69,147,248 (GRCm39)	missense	probably damaging	1.00
R1136:Adcy2	UTSW	13	68,878,436 (GRCm39)	missense	probably damaging	1.00
R1271:Adcy2	UTSW	13	68,790,617 (GRCm39)	missense	probably damaging	1.00
R1349:Adcy2	UTSW	13	68,816,652 (GRCm39)	missense	probably damaging	0.98
R1372:Adcy2	UTSW	13	68,816,652 (GRCm39)	missense	probably damaging	0.98
R1390:Adcy2	UTSW	13	68,805,512 (GRCm39)	missense	possibly damaging	0.94
R1495:Adcy2	UTSW	13	68,944,654 (GRCm39)	missense	probably benign	0.30
R1706:Adcy2	UTSW	13	68,868,865 (GRCm39)	missense	probably damaging	1.00
R1839:Adcy2	UTSW	13	68,837,380 (GRCm39)	splice site	probably null
R2004:Adcy2	UTSW	13	68,944,722 (GRCm39)	missense	probably damaging	1.00
R2235:Adcy2	UTSW	13	68,816,611 (GRCm39)	missense	probably damaging	0.98
R2242:Adcy2	UTSW	13	68,837,460 (GRCm39)	missense	probably benign	0.00
R2940:Adcy2	UTSW	13	68,878,424 (GRCm39)	missense	probably damaging	1.00
R3624:Adcy2	UTSW	13	68,790,650 (GRCm39)	missense	probably damaging	0.99
R3689:Adcy2	UTSW	13	68,779,088 (GRCm39)	missense	probably damaging	1.00
R4685:Adcy2	UTSW	13	68,876,024 (GRCm39)	missense	probably benign	0.32
R4695:Adcy2	UTSW	13	68,875,962 (GRCm39)	missense	possibly damaging	0.67
R5213:Adcy2	UTSW	13	68,768,942 (GRCm39)	missense	possibly damaging	0.61
R5645:Adcy2	UTSW	13	68,877,321 (GRCm39)	splice site	probably null
R5687:Adcy2	UTSW	13	68,790,688 (GRCm39)	missense	probably damaging	1.00
R5687:Adcy2	UTSW	13	68,768,938 (GRCm39)	nonsense	probably null
R5833:Adcy2	UTSW	13	68,886,722 (GRCm39)	missense	probably benign
R5846:Adcy2	UTSW	13	68,886,707 (GRCm39)	missense	probably damaging	0.99
R5894:Adcy2	UTSW	13	68,773,971 (GRCm39)	missense	probably damaging	1.00
R6111:Adcy2	UTSW	13	68,877,360 (GRCm39)	missense	probably damaging	0.99
R6311:Adcy2	UTSW	13	68,773,911 (GRCm39)	missense	probably damaging	1.00
R6642:Adcy2	UTSW	13	68,768,945 (GRCm39)	missense	probably damaging	1.00
R6644:Adcy2	UTSW	13	68,816,671 (GRCm39)	missense	possibly damaging	0.88
R6899:Adcy2	UTSW	13	69,130,500 (GRCm39)	missense	probably damaging	0.99
R6917:Adcy2	UTSW	13	68,768,876 (GRCm39)	missense	possibly damaging	0.68
R6950:Adcy2	UTSW	13	69,036,184 (GRCm39)	missense	possibly damaging	0.93
R7006:Adcy2	UTSW	13	69,036,139 (GRCm39)	missense	probably damaging	1.00
R7186:Adcy2	UTSW	13	68,816,758 (GRCm39)	missense	probably damaging	1.00
R7311:Adcy2	UTSW	13	68,779,073 (GRCm39)	missense	probably damaging	1.00
R7348:Adcy2	UTSW	13	68,882,794 (GRCm39)	missense	possibly damaging	0.79
R7440:Adcy2	UTSW	13	68,944,786 (GRCm39)	missense	probably damaging	0.97
R7463:Adcy2	UTSW	13	68,878,399 (GRCm39)	missense	probably damaging	1.00
R7827:Adcy2	UTSW	13	68,837,400 (GRCm39)	missense	probably damaging	1.00
R7919:Adcy2	UTSW	13	69,036,091 (GRCm39)	missense	probably benign	0.08
R8144:Adcy2	UTSW	13	68,882,754 (GRCm39)	nonsense	probably null
R8256:Adcy2	UTSW	13	68,768,880 (GRCm39)	missense	probably damaging	1.00
R8556:Adcy2	UTSW	13	68,779,094 (GRCm39)	missense	possibly damaging	0.61
R9121:Adcy2	UTSW	13	68,820,078 (GRCm39)	missense	probably benign	0.35
R9128:Adcy2	UTSW	13	68,773,927 (GRCm39)	missense	probably damaging	1.00
R9255:Adcy2	UTSW	13	69,036,199 (GRCm39)	missense	possibly damaging	0.93
R9464:Adcy2	UTSW	13	68,882,776 (GRCm39)	missense	probably damaging	1.00
R9749:Adcy2	UTSW	13	68,773,974 (GRCm39)	missense	probably damaging	1.00
R9799:Adcy2	UTSW	13	68,805,489 (GRCm39)	missense	probably damaging	1.00
R9799:Adcy2	UTSW	13	68,768,961 (GRCm39)	missense	probably benign	0.03

Posted On

2013-11-05