Mutagenetix > Incidental Mutation

Incidental Mutation 'R1349:Adcy2'

156617

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

039414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1349 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68816652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 778 (N778I)

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: N778I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: N778I

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

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.8%

Validation Efficiency

98% (46/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	G	A	8: 125,587,992 (GRCm39)	T36I	possibly damaging	Het
Ak5	G	T	3: 152,239,071 (GRCm39)	D301E	probably damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Ankrd28	A	T	14: 31,467,218 (GRCm39)	M248K	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Ccdc157	A	T	11: 4,099,056 (GRCm39)	I48N	probably benign	Het
Cd209d	C	A	8: 3,928,515 (GRCm39)		probably benign	Het
Cecr2	G	A	6: 120,734,564 (GRCm39)	G613E	probably damaging	Het
Clspn	C	T	4: 126,457,770 (GRCm39)	A98V	probably benign	Het
Cntnap5b	G	A	1: 100,091,813 (GRCm39)	D499N	probably benign	Het
Cox7a2	G	A	9: 79,665,819 (GRCm39)	R21*	probably null	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dbpht2	C	CNNNNNNNNNNNNNNNNNN	12: 74,345,836 (GRCm39)		noncoding transcript	Het
Dlg1	T	C	16: 31,631,638 (GRCm39)	I208T	probably damaging	Het
Dmxl1	A	T	18: 50,021,920 (GRCm39)	N1612Y	probably damaging	Het
Epha3	A	G	16: 63,431,416 (GRCm39)	I495T	possibly damaging	Het
Frem1	T	C	4: 82,840,542 (GRCm39)		probably benign	Het
Glipr1	A	G	10: 111,829,437 (GRCm39)	V108A	probably benign	Het
Gpatch2l	T	C	12: 86,307,483 (GRCm39)	L287P	possibly damaging	Het
Hp	T	G	8: 110,301,938 (GRCm39)	K337Q	probably benign	Het
Htr1a	T	A	13: 105,581,874 (GRCm39)	C371*	probably null	Het
Leo1	T	C	9: 75,356,751 (GRCm39)	V377A	possibly damaging	Het
Lsg1	A	G	16: 30,383,472 (GRCm39)	F583L	possibly damaging	Het
Map4k4	C	A	1: 40,060,319 (GRCm39)	P1103Q	probably damaging	Het
Mybph	T	C	1: 134,121,353 (GRCm39)	S38P	probably benign	Het
Myo1e	T	G	9: 70,194,351 (GRCm39)		probably benign	Het
Nefh	T	TNNNNNNNNNNNNNNNNNN	11: 4,891,010 (GRCm39)		probably benign	Het
Oca2	T	A	7: 56,185,716 (GRCm39)	M814K	probably benign	Het
Odad3	C	T	9: 21,904,916 (GRCm39)	R290H	probably damaging	Het
Pkd1	T	C	17: 24,794,240 (GRCm39)	C1976R	probably damaging	Het
Pogz	T	A	3: 94,768,199 (GRCm39)	L126M	probably damaging	Het
Rec8	T	C	14: 55,856,431 (GRCm39)	Y68H	probably damaging	Het
Ryr3	T	A	2: 112,664,546 (GRCm39)	S1582C	probably damaging	Het
Sh3pxd2a	A	T	19: 47,256,160 (GRCm39)	W853R	probably damaging	Het
Slc6a7	C	T	18: 61,133,615 (GRCm39)	G527D	probably benign	Het
Spopfm1	A	G	3: 94,173,435 (GRCm39)	T148A	possibly damaging	Het
Tgm1	A	G	14: 55,948,658 (GRCm39)		probably benign	Het
Tnxb	T	C	17: 34,929,267 (GRCm39)	V2770A	possibly damaging	Het
Togaram1	T	A	12: 65,057,919 (GRCm39)	M1502K	probably damaging	Het
Vmn1r11	G	A	6: 57,114,963 (GRCm39)	C209Y	probably benign	Het
Vmn2r102	A	T	17: 19,880,887 (GRCm39)		probably benign	Het
Vmn2r12	T	C	5: 109,234,452 (GRCm39)	M587V	probably benign	Het
Vmn2r63	A	G	7: 42,578,642 (GRCm39)	F84L	possibly damaging	Het
Wdr35	A	T	12: 9,069,870 (GRCm39)		probably benign	Het
Wdr73	C	A	7: 80,543,000 (GRCm39)	V176L	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCACTGGAATGTCTGAAGTGTGAG -3'
(R):5'- TGGATGGTGTCCCCAGATGTAACTG -3'

Sequencing Primer
(F):5'- cctagacaggatgggcagac -3'
(R):5'- GGTTAGGGCTTCCTAGCAAT -3'

Posted On

2014-02-11