Mutagenetix > Incidental Mutations

Incidental Mutation 'R7463:Adcy2'

578581

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68620043-68999541 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68730280 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 413 (D413G)

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: D413G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: D413G

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

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	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
IGL02419:Adcy2	APN	13	68982363	missense	probably benign	0.40
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
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
R9121:Adcy2	UTSW	13	68671959	missense	probably benign	0.35
R9128:Adcy2	UTSW	13	68625808	missense	probably damaging	1.00
R9255:Adcy2	UTSW	13	68888080	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGGTCACACAGGTATCACAATTTC -3'
(R):5'- TTGCCAAAAGTCTGATGTGATCTG -3'

Sequencing Primer
(F):5'- TTCAACACAGGTAAGAGTAGTCATG -3'
(R):5'- ACACAGGGAATTTGGCCATG -3'

Posted On

2019-10-07