Mutagenetix > Incidental Mutation

Incidental Mutation 'R8256:Adcy2'

640568

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

067682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 68768880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1083 (E1083K)

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: E1083K

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

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: E1083K

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

0.2017

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	T	16: 30,958,287 (GRCm39)		probably null	Het
Acsbg1	A	T	9: 54,525,345 (GRCm39)	M402K	probably damaging	Het
Adamts2	T	C	11: 50,683,583 (GRCm39)	V955A	probably benign	Het
Adgrb2	G	A	4: 129,901,921 (GRCm39)	A484T	probably damaging	Het
Adgrv1	G	T	13: 81,727,679 (GRCm39)	D320E	probably damaging	Het
Arf4	T	C	14: 26,377,126 (GRCm39)	S178P	probably benign	Het
Atg9a	G	A	1: 75,163,563 (GRCm39)	T179I	possibly damaging	Het
Atp13a2	A	C	4: 140,722,922 (GRCm39)	Q225P	possibly damaging	Het
Axdnd1	T	C	1: 156,158,236 (GRCm39)	T1105A	unknown	Het
Bltp2	T	A	11: 78,167,979 (GRCm39)	D1471E	probably benign	Het
Ccdc68	G	T	18: 70,072,018 (GRCm39)	E32*	probably null	Het
Chd9	T	C	8: 91,660,129 (GRCm39)	V363A	unknown	Het
Cmya5	C	T	13: 93,229,986 (GRCm39)	E1701K	possibly damaging	Het
Def8	T	C	8: 124,186,368 (GRCm39)	F369S	probably damaging	Het
Dhx8	C	T	11: 101,631,588 (GRCm39)	P394S	possibly damaging	Het
Fbxo3	A	G	2: 103,864,008 (GRCm39)	R88G	probably damaging	Het
Gstm4	A	G	3: 107,951,667 (GRCm39)		probably null	Het
Hira	A	G	16: 18,744,443 (GRCm39)	T387A	probably benign	Het
Hspbap1	A	G	16: 35,590,879 (GRCm39)	T12A	probably benign	Het
Lipi	G	A	16: 75,370,950 (GRCm39)	A89V	probably benign	Het
Lsamp	A	T	16: 41,965,007 (GRCm39)	Y305F	probably damaging	Het
Ltbp1	T	A	17: 75,622,236 (GRCm39)		probably benign	Het
Mphosph9	C	T	5: 124,393,169 (GRCm39)	D1116N	probably damaging	Het
Mylip	T	C	13: 45,561,833 (GRCm39)	C277R	probably damaging	Het
Mylk4	T	C	13: 32,904,522 (GRCm39)	D204G	probably damaging	Het
Ncf2	G	A	1: 152,692,851 (GRCm39)		probably null	Het
Or2n1e	T	G	17: 38,586,411 (GRCm39)	L250V	probably damaging	Het
Plekhg3	T	C	12: 76,609,041 (GRCm39)	L138P	probably damaging	Het
Pramel27	A	G	4: 143,578,255 (GRCm39)	R172G	probably benign	Het
Ptk6	T	A	2: 180,837,633 (GRCm39)	K429*	probably null	Het
Rasgrp4	T	C	7: 28,842,500 (GRCm39)	V258A	probably damaging	Het
Rp1l1	T	C	14: 64,265,602 (GRCm39)	L396S	probably benign	Het
Samd8	A	T	14: 21,833,745 (GRCm39)		probably null	Het
Spock1	T	A	13: 57,588,257 (GRCm39)	I269F	probably damaging	Het
Tap2	A	G	17: 34,435,006 (GRCm39)	D683G	probably benign	Het
Terb1	T	C	8: 105,199,579 (GRCm39)	D455G	possibly damaging	Het
Tnfaip8l3	A	G	9: 53,934,528 (GRCm39)	V149A	probably benign	Het
Ubr7	T	A	12: 102,736,170 (GRCm39)	M364K	probably damaging	Het
Vmn1r121	T	G	7: 20,831,679 (GRCm39)	N254H	probably benign	Het
Zfp804a	A	G	2: 81,884,193 (GRCm39)	N20S	probably damaging	Het
Zhx1	T	C	15: 57,916,359 (GRCm39)	K629R	probably benign	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
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
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'- CCTGTATGAAGTGGGCTACATTGC -3'

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

Posted On

2020-07-28