Mutagenetix > Incidental Mutation

Incidental Mutation 'R1271:Adcy2'

151320

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

039337-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68790617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 916 (C916S)

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: C916S

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

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: C916S

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	A	T	1: 52,964,493 (GRCm39)	D78E	possibly damaging	Het
4930447C04Rik	A	T	12: 72,939,657 (GRCm39)	F419I	possibly damaging	Het
Abca14	T	C	7: 119,924,340 (GRCm39)	V1664A	probably damaging	Het
Acadvl	A	G	11: 69,905,526 (GRCm39)	S71P	probably damaging	Het
Atad2	T	C	15: 57,989,985 (GRCm39)	T164A	probably benign	Het
Ccdc18	A	T	5: 108,349,982 (GRCm39)	K1045*	probably null	Het
Cemip2	T	A	19: 21,801,268 (GRCm39)	I795N	possibly damaging	Het
Cfap43	C	T	19: 47,728,183 (GRCm39)	E1525K	probably benign	Het
Cfap43	G	T	19: 47,736,387 (GRCm39)	S1368Y	probably damaging	Het
Csmd3	T	A	15: 47,874,455 (GRCm39)	I610L	probably benign	Het
Des	A	T	1: 75,337,290 (GRCm39)	T77S	probably benign	Het
Fnip1	T	C	11: 54,394,123 (GRCm39)	V853A	probably benign	Het
Gabrg1	T	A	5: 70,934,487 (GRCm39)	D292V	probably damaging	Het
Gcm1	A	G	9: 77,966,859 (GRCm39)	N26S	probably benign	Het
Gpsm1	G	T	2: 26,234,684 (GRCm39)	R507L	probably damaging	Het
H2-M1	T	A	17: 36,982,137 (GRCm39)	T155S	probably benign	Het
Hapln3	T	C	7: 78,767,764 (GRCm39)	D210G	probably damaging	Het
Magel2	T	C	7: 62,030,762 (GRCm39)	L1222P	unknown	Het
Mphosph10	A	T	7: 64,039,832 (GRCm39)		probably null	Het
Mup6	A	T	4: 60,003,579 (GRCm39)		probably benign	Het
Nsmce1	T	A	7: 125,070,426 (GRCm39)	E128D	probably damaging	Het
Or4c11	T	A	2: 88,695,475 (GRCm39)	Y175*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sorbs2	T	A	8: 46,249,004 (GRCm39)	S733T	probably damaging	Het
Stxbp5	A	T	10: 9,692,013 (GRCm39)	I377K	probably damaging	Het
Tnfsf4	T	A	1: 161,223,274 (GRCm39)	L41Q	probably damaging	Het
Tut7	A	C	13: 59,969,669 (GRCm39)	N75K	probably damaging	Het
Usp28	G	A	9: 48,947,261 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CTGCCAGAGACCTTGAATATGCCC -3'
(R):5'- AGCATTGCCATCTCCAGCAGAC -3'

Sequencing Primer
(F):5'- GACCTTGAATATGCCCAGTGATG -3'
(R):5'- GACCACACATCCGAAGGG -3'

Posted On

2014-01-29