Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:Adcy2'

544734

Institutional Source

Beutler Lab

Gene Symbol

Adcy2

Ensembl Gene

ENSMUSG00000021536

Gene Name

adenylate cyclase 2

Synonyms

MMRRC Submission

045011-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

68768162-69147660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 69036139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 174 (T174M)

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: T174M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022013
Gene: ENSMUSG00000021536
AA Change: T174M

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	G	4: 144,447,853 (GRCm39)	V41A	probably benign	Het
Ankfy1	T	A	11: 72,631,290 (GRCm39)	I412N	probably benign	Het
AW146154	T	C	7: 41,130,648 (GRCm39)	E156G	possibly damaging	Het
B4galnt1	T	C	10: 127,005,700 (GRCm39)	L267P	probably benign	Het
Bod1l	T	C	5: 41,989,895 (GRCm39)	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,171,102 (GRCm39)	T459A	probably benign	Het
Ccdc196	T	A	12: 78,255,702 (GRCm39)	*177R	probably null	Het
Cep72	G	A	13: 74,198,427 (GRCm39)	Q311*	probably null	Het
Cir1	T	C	2: 73,140,834 (GRCm39)	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,261,127 (GRCm39)		probably null	Het
Crtap	G	T	9: 114,215,391 (GRCm39)	A166E	probably damaging	Het
Dipk1a	A	G	5: 108,058,027 (GRCm39)	V132A	probably benign	Het
Dmp1	A	G	5: 104,360,188 (GRCm39)	D288G	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmnl2	C	A	2: 52,998,266 (GRCm39)	Q544K	probably benign	Het
Gpsm1	T	C	2: 26,212,572 (GRCm39)	L72P	probably damaging	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Kcnq3	A	C	15: 65,892,165 (GRCm39)	Y403*	probably null	Het
Kcp	A	C	6: 29,499,169 (GRCm39)	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,625,526 (GRCm39)	S599P	probably damaging	Het
Krt20	A	T	11: 99,328,587 (GRCm39)	Y113N	probably benign	Het
Mcm8	T	G	2: 132,665,181 (GRCm39)	V191G	probably damaging	Het
Msr1	T	A	8: 40,042,423 (GRCm39)	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873 (GRCm39)	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,167,731 (GRCm39)	T1020M	probably benign	Het
Nphp4	A	G	4: 152,573,259 (GRCm39)	T66A	probably benign	Het
Or1o3	T	A	17: 37,573,625 (GRCm39)	*310L	probably null	Het
Or4f14	C	A	2: 111,742,601 (GRCm39)	V225L	probably benign	Het
Or8h10	G	A	2: 86,808,303 (GRCm39)	T279I	probably damaging	Het
Or8k18	T	A	2: 86,085,572 (GRCm39)	Q155L	probably benign	Het
Phf11d	G	T	14: 59,590,823 (GRCm39)	T178K	probably benign	Het
Ppm1d	A	G	11: 85,227,977 (GRCm39)	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,503,690 (GRCm39)	I144K	probably benign	Het
Stoml1	A	G	9: 58,167,523 (GRCm39)	D5G	probably damaging	Het
Styxl2	T	C	1: 165,926,663 (GRCm39)	N983S	probably benign	Het
Tanc1	T	C	2: 59,626,188 (GRCm39)	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,947,361 (GRCm39)	V108A	possibly damaging	Het
Tifab	T	C	13: 56,324,059 (GRCm39)	Y128C	probably benign	Het
Tmc6	G	T	11: 117,665,083 (GRCm39)	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,162 (GRCm39)	A63T	probably damaging	Het
Trgc4	T	A	13: 19,528,995 (GRCm39)		probably benign	Het
Usp16	G	T	16: 87,268,724 (GRCm39)	C284F	probably damaging	Het
Wipf1	T	C	2: 73,267,441 (GRCm39)	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,326,649 (GRCm39)	W347R	probably damaging	Het
Zfp180	G	T	7: 23,804,537 (GRCm39)	E319*	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
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
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'- ACTAATGACCCTGGTGGAGGAG -3'
(R):5'- GATGTCGTTTCTCAAATGAGGG -3'

Sequencing Primer
(F):5'- GGACAAGGCTCAGCAGC -3'
(R):5'- CTCAAATGAGGGTGTTGTCGTC -3'

Posted On

2019-05-13