Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Adcy2'

255149

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

040517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68878424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 405 (W405R)

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: W405R

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

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: W405R

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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
Apc	G	A	18: 34,409,723 (GRCm39)	R221H	probably damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Bltp1	A	G	3: 37,012,954 (GRCm39)	D1878G	probably damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 95,978,735 (GRCm39)	I573V	probably benign	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,533,202 (GRCm39)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,762,115 (GRCm39)	T487A	probably benign	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,290,564 (GRCm39)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,707,276 (GRCm39)	Y327C	probably damaging	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Igfbp1	A	G	11: 7,151,970 (GRCm39)	T258A	probably benign	Het
Isl1	T	C	13: 116,444,835 (GRCm39)	T65A	possibly damaging	Het
Khdrbs3	T	A	15: 68,921,239 (GRCm39)	D185E	probably damaging	Het
Klc1	C	T	12: 111,772,451 (GRCm39)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,830,714 (GRCm39)	S1484G	probably benign	Het
Lman1	G	T	18: 66,117,344 (GRCm39)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbea	C	G	3: 55,842,045 (GRCm39)	E1879Q	probably benign	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pigc	T	C	1: 161,798,239 (GRCm39)	Y74H	possibly damaging	Het
Plek	C	T	11: 16,942,887 (GRCm39)		probably null	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rasgrf1	C	T	9: 89,873,767 (GRCm39)	A692V	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,244,505 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,122,757 (GRCm39)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Sorbs1	T	C	19: 40,362,015 (GRCm39)	D123G	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,534,994 (GRCm39)	N298D	probably damaging	Het
Xpo7	G	T	14: 70,904,577 (GRCm39)	L1020I	probably benign	Het
Xpo7	A	T	14: 70,904,576 (GRCm39)	L1020Q	probably damaging	Het
Zswim4	A	T	8: 84,950,377 (GRCm39)	L611Q	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
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'- GAGGTCACACAGGTATCACAATTTC -3'
(R):5'- TGCCAAAAGTCTGATGTGATCTG -3'

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

Posted On

2014-12-29