Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Adcy2'

539411

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

045038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68768876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1084 (M1084K)

Ref Sequence

ENSEMBL: ENSMUSP00000022013 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022013
AA Change: M1084K

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: M1084K

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

0.0931

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

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
Abi3bp	A	G	16: 56,437,684 (GRCm39)		probably null	Het
Ak1	A	G	2: 32,521,164 (GRCm39)	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,115,951 (GRCm39)	E1018G	probably null	Het
Ccdc175	A	G	12: 72,231,679 (GRCm39)	S27P	probably damaging	Het
Ddx31	C	T	2: 28,782,421 (GRCm39)	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,997,215 (GRCm39)	W504R	probably damaging	Het
Echs1	T	G	7: 139,689,924 (GRCm39)	M239L	probably benign	Het
Eno1b	A	G	18: 48,180,656 (GRCm39)	D278G	probably benign	Het
Eno3	A	G	11: 70,552,262 (GRCm39)	T305A	probably benign	Het
Gm5591	T	A	7: 38,221,614 (GRCm39)	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680 (GRCm39)	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,502,681 (GRCm39)	T79A	probably damaging	Het
Ice1	A	T	13: 70,743,013 (GRCm39)	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,297,419 (GRCm39)	M311T	probably benign	Het
L1td1	T	C	4: 98,622,268 (GRCm39)	F277L	probably benign	Het
Lamp1	T	C	8: 13,222,563 (GRCm39)	I249T	probably damaging	Het
Ldb3	G	A	14: 34,277,321 (GRCm39)	A351V	probably null	Het
Lmo7	A	G	14: 102,155,446 (GRCm39)	E996G	probably damaging	Het
Lsr	T	C	7: 30,657,721 (GRCm39)	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Myo7a	T	C	7: 97,744,970 (GRCm39)	E290G	possibly damaging	Het
Nos2	C	T	11: 78,842,053 (GRCm39)	T735M	possibly damaging	Het
Or10ak12	A	T	4: 118,666,326 (GRCm39)	L245H	probably damaging	Het
Or11h6	A	G	14: 50,880,680 (GRCm39)	K314R	possibly damaging	Het
Or8g36	T	A	9: 39,422,495 (GRCm39)	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,841,899 (GRCm39)	L768P	probably benign	Het
Plod2	T	A	9: 92,475,823 (GRCm39)	V302D	possibly damaging	Het
Ptgdr	A	T	14: 45,096,067 (GRCm39)	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,770,159 (GRCm39)	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 180,980,070 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,825,388 (GRCm39)	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,088,578 (GRCm39)	T141N	probably damaging	Het
Sp4	G	T	12: 118,262,908 (GRCm39)	N379K	probably damaging	Het
Thrap3	A	G	4: 126,074,285 (GRCm39)		probably benign	Het
Thumpd2	T	G	17: 81,351,543 (GRCm39)	I293L	probably benign	Het
Tjp1	A	G	7: 64,949,436 (GRCm39)	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,889,864 (GRCm39)	S326G	probably benign	Het
Txndc9	A	C	1: 38,034,887 (GRCm39)	S6A	probably benign	Het
Uhrf1	T	C	17: 56,616,574 (GRCm39)	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,741,832 (GRCm39)	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,452,745 (GRCm39)	S105T	probably benign	Het
Zfp445	A	T	9: 122,691,359 (GRCm39)		probably null	Het
Zfp654	A	T	16: 64,606,834 (GRCm39)	M456K	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
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
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'- GCAAGTGGCAGGACAATCTG -3'
(R):5'- CCCTGTATGAAGTGGGCTACATTG -3'

Sequencing Primer
(F):5'- CTGGGTCACAGGAACTAGTCTG -3'
(R):5'- GCTACATTGCCTTGTAAAGTAATCCC -3'

Posted On

2018-11-06