Mutagenetix > Incidental Mutation

Incidental Mutation 'R6685:Adcy5'

527659

Institutional Source

Beutler Lab

Gene Symbol

Adcy5

Ensembl Gene

ENSMUSG00000022840

Gene Name

adenylate cyclase 5

Synonyms

AC5

MMRRC Submission

044804-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R6685 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34975247-35126108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35099586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 712 (N712S)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114913]

AlphaFold

P84309

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114913
AA Change: N712S

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: N712S

Domain	Start	End	E-Value	Type
low complexity region	47	59	N/A	INTRINSIC
low complexity region	75	89	N/A	INTRINSIC
low complexity region	107	150	N/A	INTRINSIC
low complexity region	158	175	N/A	INTRINSIC
low complexity region	181	208	N/A	INTRINSIC
low complexity region	243	258	N/A	INTRINSIC
low complexity region	269	288	N/A	INTRINSIC
low complexity region	305	320	N/A	INTRINSIC
low complexity region	350	368	N/A	INTRINSIC
CYCc	424	623	2.62e-69	SMART
Pfam:DUF1053	669	762	1.8e-30	PFAM
transmembrane domain	794	816	N/A	INTRINSIC
transmembrane domain	837	856	N/A	INTRINSIC
transmembrane domain	910	932	N/A	INTRINSIC
transmembrane domain	934	956	N/A	INTRINSIC
transmembrane domain	985	1004	N/A	INTRINSIC
CYCc	1032	1240	2.98e-50	SMART

Meta Mutation Damage Score

0.0806

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

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 membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted inactivation of this gene has been shown to result in motor dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	G	T	11: 116,071,174 (GRCm39)	Y203*	probably null	Het
Adgrb3	G	A	1: 25,150,817 (GRCm39)	Q1139*	probably null	Het
Casc3	A	G	11: 98,713,356 (GRCm39)	K257E	probably damaging	Het
Ccn5	A	G	2: 163,670,868 (GRCm39)	D125G	possibly damaging	Het
Cttnbp2nl	G	T	3: 104,912,814 (GRCm39)	Q357K	probably benign	Het
Dcst1	A	C	3: 89,264,180 (GRCm39)	V345G	possibly damaging	Het
Dsg3	G	A	18: 20,653,672 (GRCm39)		probably null	Het
Ehbp1	A	G	11: 22,096,641 (GRCm39)	C308R	probably benign	Het
Etaa1	G	T	11: 17,903,582 (GRCm39)	D71E	probably benign	Het
Flg	T	C	3: 93,186,716 (GRCm39)	V56A	possibly damaging	Het
Gpr162	A	G	6: 124,838,494 (GRCm39)	L52P	probably damaging	Het
Inhbb	A	G	1: 119,345,335 (GRCm39)	L318P	probably damaging	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Mcm8	G	A	2: 132,684,570 (GRCm39)	R728Q	probably damaging	Het
Metap1	A	T	3: 138,184,595 (GRCm39)	F126I	possibly damaging	Het
Or51a6	T	C	7: 102,604,888 (GRCm39)		probably null	Het
Peg10	T	A	6: 4,754,738 (GRCm39)	V173E	probably damaging	Het
Poteg	T	A	8: 27,937,933 (GRCm39)	F30I	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sh3rf3	C	T	10: 58,922,663 (GRCm39)	L580F	possibly damaging	Het
Slc26a7	C	A	4: 14,593,819 (GRCm39)	V99F	probably damaging	Het
Slc26a7	A	T	4: 14,593,820 (GRCm39)	H98Q	probably damaging	Het
Slc9a2	A	T	1: 40,758,069 (GRCm39)	I203F	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Txnrd3	G	A	6: 89,646,897 (GRCm39)	V347I	possibly damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het

Other mutations in Adcy5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Adcy5	APN	16	35,073,583 (GRCm39)	missense	possibly damaging	0.49
IGL01583:Adcy5	APN	16	35,103,883 (GRCm39)	splice site	probably benign
IGL01608:Adcy5	APN	16	35,092,535 (GRCm39)	missense	probably damaging	1.00
IGL02097:Adcy5	APN	16	35,092,468 (GRCm39)	missense	probably damaging	1.00
IGL02122:Adcy5	APN	16	35,103,982 (GRCm39)	splice site	probably benign
IGL02532:Adcy5	APN	16	35,092,453 (GRCm39)	missense	possibly damaging	0.79
IGL02814:Adcy5	APN	16	35,124,019 (GRCm39)	missense	probably benign	0.08
IGL02877:Adcy5	APN	16	35,118,970 (GRCm39)	missense	probably damaging	1.00
IGL03026:Adcy5	APN	16	34,977,412 (GRCm39)	missense	probably benign	0.41
IGL03345:Adcy5	APN	16	35,069,184 (GRCm39)	missense	probably benign	0.05
H8562:Adcy5	UTSW	16	35,087,551 (GRCm39)	missense	probably damaging	1.00
H8786:Adcy5	UTSW	16	35,087,551 (GRCm39)	missense	probably damaging	1.00
R0050:Adcy5	UTSW	16	35,124,673 (GRCm39)	utr 3 prime	probably benign
R0091:Adcy5	UTSW	16	35,091,368 (GRCm39)	critical splice donor site	probably null
R0112:Adcy5	UTSW	16	34,976,548 (GRCm39)	missense	possibly damaging	0.85
R0398:Adcy5	UTSW	16	35,089,438 (GRCm39)	missense	probably damaging	1.00
R0457:Adcy5	UTSW	16	35,094,915 (GRCm39)	missense	probably benign	0.07
R0554:Adcy5	UTSW	16	35,114,387 (GRCm39)	missense	probably benign	0.26
R0698:Adcy5	UTSW	16	35,110,452 (GRCm39)	missense	possibly damaging	0.78
R0761:Adcy5	UTSW	16	35,091,195 (GRCm39)	splice site	probably benign
R0865:Adcy5	UTSW	16	35,094,841 (GRCm39)	missense	probably damaging	0.96
R0927:Adcy5	UTSW	16	34,976,613 (GRCm39)	missense	probably benign	0.32
R0945:Adcy5	UTSW	16	35,110,481 (GRCm39)	missense	probably benign
R1534:Adcy5	UTSW	16	35,073,629 (GRCm39)	missense	possibly damaging	0.92
R1565:Adcy5	UTSW	16	35,089,327 (GRCm39)	missense	probably damaging	1.00
R1721:Adcy5	UTSW	16	35,118,794 (GRCm39)	missense	probably damaging	1.00
R1839:Adcy5	UTSW	16	35,069,310 (GRCm39)	missense	probably damaging	1.00
R2047:Adcy5	UTSW	16	35,110,478 (GRCm39)	missense	possibly damaging	0.78
R3052:Adcy5	UTSW	16	35,124,086 (GRCm39)	missense	probably damaging	1.00
R3053:Adcy5	UTSW	16	35,124,086 (GRCm39)	missense	probably damaging	1.00
R3827:Adcy5	UTSW	16	35,110,467 (GRCm39)	missense	probably benign	0.03
R4398:Adcy5	UTSW	16	35,089,363 (GRCm39)	missense	probably damaging	1.00
R4700:Adcy5	UTSW	16	35,099,586 (GRCm39)	missense	possibly damaging	0.49
R4965:Adcy5	UTSW	16	35,098,872 (GRCm39)	missense	possibly damaging	0.82
R5229:Adcy5	UTSW	16	35,089,440 (GRCm39)	missense	probably damaging	0.99
R5456:Adcy5	UTSW	16	35,118,892 (GRCm39)	missense	probably damaging	1.00
R5586:Adcy5	UTSW	16	34,977,486 (GRCm39)	missense	probably damaging	0.99
R5757:Adcy5	UTSW	16	35,092,451 (GRCm39)	missense	probably damaging	1.00
R5959:Adcy5	UTSW	16	35,118,780 (GRCm39)	missense	probably damaging	1.00
R6011:Adcy5	UTSW	16	34,977,598 (GRCm39)	missense	probably benign	0.05
R6277:Adcy5	UTSW	16	35,109,896 (GRCm39)	missense	probably benign	0.02
R6296:Adcy5	UTSW	16	35,124,080 (GRCm39)	missense	probably damaging	1.00
R6379:Adcy5	UTSW	16	35,114,369 (GRCm39)	missense	probably benign	0.13
R6431:Adcy5	UTSW	16	35,099,607 (GRCm39)	missense	probably damaging	1.00
R6728:Adcy5	UTSW	16	34,977,535 (GRCm39)	missense	possibly damaging	0.88
R6755:Adcy5	UTSW	16	35,124,004 (GRCm39)	missense	possibly damaging	0.95
R6887:Adcy5	UTSW	16	35,118,960 (GRCm39)	missense	possibly damaging	0.74
R7029:Adcy5	UTSW	16	35,120,018 (GRCm39)	missense	probably null	0.91
R7047:Adcy5	UTSW	16	35,087,585 (GRCm39)	missense	probably damaging	1.00
R7050:Adcy5	UTSW	16	35,124,070 (GRCm39)	missense	possibly damaging	0.88
R7102:Adcy5	UTSW	16	35,119,995 (GRCm39)	missense	probably damaging	1.00
R7150:Adcy5	UTSW	16	35,118,904 (GRCm39)	missense	probably damaging	1.00
R7242:Adcy5	UTSW	16	34,977,205 (GRCm39)	missense	probably damaging	1.00
R7387:Adcy5	UTSW	16	35,092,460 (GRCm39)	missense	probably damaging	1.00
R7654:Adcy5	UTSW	16	35,091,317 (GRCm39)	missense	probably damaging	1.00
R7718:Adcy5	UTSW	16	35,100,785 (GRCm39)	missense	probably benign	0.42
R7834:Adcy5	UTSW	16	34,977,570 (GRCm39)	missense	probably benign	0.03
R8172:Adcy5	UTSW	16	34,977,427 (GRCm39)	missense	probably damaging	0.96
R8772:Adcy5	UTSW	16	35,119,958 (GRCm39)	missense	probably damaging	1.00
R8983:Adcy5	UTSW	16	34,977,232 (GRCm39)	missense	possibly damaging	0.88
R9031:Adcy5	UTSW	16	35,119,859 (GRCm39)	missense	probably damaging	1.00
R9070:Adcy5	UTSW	16	35,100,770 (GRCm39)	missense	probably damaging	0.99
R9149:Adcy5	UTSW	16	35,092,481 (GRCm39)	missense	probably damaging	1.00
R9190:Adcy5	UTSW	16	35,089,364 (GRCm39)	nonsense	probably null
R9256:Adcy5	UTSW	16	35,124,052 (GRCm39)	missense	probably damaging	1.00
R9557:Adcy5	UTSW	16	35,091,327 (GRCm39)	missense	probably damaging	1.00
R9776:Adcy5	UTSW	16	35,100,725 (GRCm39)	missense	probably damaging	1.00
V7732:Adcy5	UTSW	16	35,103,911 (GRCm39)	missense	probably benign	0.00
X0022:Adcy5	UTSW	16	35,119,826 (GRCm39)	missense	probably damaging	0.99
Z1176:Adcy5	UTSW	16	35,111,914 (GRCm39)	missense	not run
Z1176:Adcy5	UTSW	16	35,110,555 (GRCm39)	missense	probably benign	0.03
Z1176:Adcy5	UTSW	16	34,976,691 (GRCm39)	missense	unknown
Z1177:Adcy5	UTSW	16	35,111,914 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- CCGGTCATGTGCAGTTGTTAAG -3'
(R):5'- AGAGAGGAAGTCACCCTGTG -3'

Sequencing Primer
(F):5'- CAGTTGTTAAGAACACAGCCTGGTC -3'
(R):5'- CTGTGGGCTGCCCTCTATG -3'

Posted On

2018-07-23