Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02419

Quality Score

Status

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69130482 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 88,312,727 (GRCm39)	F171L	possibly damaging	Het
Abca2	A	G	2: 25,336,849 (GRCm39)	N2291D	probably benign	Het
Adamts9	A	G	6: 92,773,978 (GRCm39)	V1145A	probably benign	Het
Akr1c14	A	T	13: 4,130,617 (GRCm39)		probably null	Het
Aptx	G	T	4: 40,691,032 (GRCm39)	A229E	probably benign	Het
Ash1l	T	C	3: 88,892,872 (GRCm39)	S1584P	probably benign	Het
Catsper3	A	T	13: 55,955,881 (GRCm39)	T329S	possibly damaging	Het
Cntrl	A	G	2: 35,024,055 (GRCm39)	D27G	probably damaging	Het
Cobll1	A	T	2: 64,981,392 (GRCm39)	I98K	probably damaging	Het
Ctdp1	T	C	18: 80,463,799 (GRCm39)	K79R	probably damaging	Het
Cwf19l2	T	C	9: 3,418,777 (GRCm39)		probably null	Het
Cyp11b2	A	T	15: 74,722,904 (GRCm39)	F498Y	probably damaging	Het
Dnpep	A	G	1: 75,292,332 (GRCm39)	I162T	probably damaging	Het
Efcab9	T	C	11: 32,472,950 (GRCm39)	I166V	probably benign	Het
Ep400	A	T	5: 110,845,242 (GRCm39)		probably null	Het
Gata6	G	A	18: 11,054,220 (GRCm39)	G50R	probably damaging	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Grifin	T	C	5: 140,550,455 (GRCm39)	T20A	probably benign	Het
Hnf4a	A	T	2: 163,408,202 (GRCm39)	I352F	probably damaging	Het
Ifi204	T	C	1: 173,576,946 (GRCm39)	T552A	possibly damaging	Het
Ifi205	C	T	1: 173,845,180 (GRCm39)	A201T	probably damaging	Het
Kcnk6	A	G	7: 28,924,627 (GRCm39)	V259A	probably benign	Het
Kif21b	A	G	1: 136,079,005 (GRCm39)	N451S	probably benign	Het
Klhl24	T	A	16: 19,926,118 (GRCm39)	Y215*	probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mical1	A	G	10: 41,358,273 (GRCm39)	K429E	possibly damaging	Het
Misp	A	G	10: 79,663,705 (GRCm39)		probably benign	Het
Mon2	T	C	10: 122,852,352 (GRCm39)	N1007S	probably benign	Het
Or10v1	A	T	19: 11,874,186 (GRCm39)	Y267F	probably benign	Het
Or14a260	C	A	7: 85,984,870 (GRCm39)	V245F	probably damaging	Het
Or51v8	A	T	7: 103,319,682 (GRCm39)	C185*	probably null	Het
Or8k41	T	A	2: 86,313,259 (GRCm39)	I276F	probably damaging	Het
Pex6	C	A	17: 47,035,361 (GRCm39)	T840N	possibly damaging	Het
Prox1	C	T	1: 189,893,327 (GRCm39)	A373T	probably benign	Het
Rapgef3	G	T	15: 97,648,171 (GRCm39)	N679K	probably benign	Het
Serpina3n	T	C	12: 104,379,777 (GRCm39)	V390A	possibly damaging	Het
Sirpb1a	A	G	3: 15,491,398 (GRCm39)	F23S	probably benign	Het
Slc44a3	T	C	3: 121,283,906 (GRCm39)	T449A	probably benign	Het
Smad6	G	A	9: 63,860,800 (GRCm39)		probably benign	Het
Sos2	C	T	12: 69,663,764 (GRCm39)	M573I	probably benign	Het
St8sia1	A	T	6: 142,774,661 (GRCm39)	I306N	probably damaging	Het
Tnks1bp1	T	C	2: 84,902,125 (GRCm39)	S1674P	possibly damaging	Het
Trim47	G	A	11: 115,997,027 (GRCm39)	R576W	probably damaging	Het
Wdr86	A	T	5: 24,927,702 (GRCm39)	I79N	probably damaging	Het
Wwp2	T	A	8: 108,276,447 (GRCm39)	V473D	probably damaging	Het
Zc3h12a	T	C	4: 125,013,581 (GRCm39)	T428A	probably benign	Het
Zfp592	A	G	7: 80,687,993 (GRCm39)	E973G	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
IGL01394:Adcy2	APN	13	69,130,521 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16