Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02532:Adcy5'

297366

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy5

Ensembl Gene

ENSMUSG00000022840

Gene Name

adenylate cyclase 5

Synonyms

AC5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

34975247-35126108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35092453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 605 (I605V)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

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

AlphaFold

P84309

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114913
AA Change: I605V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: I605V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232470

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	T	C	7: 28,947,645 (GRCm39)	K15E	possibly damaging	Het
Abca2	A	G	2: 25,325,148 (GRCm39)	T381A	probably benign	Het
Adcy1	T	A	11: 7,094,737 (GRCm39)	N554K	probably benign	Het
Arhgap11a	G	T	2: 113,664,021 (GRCm39)	S754*	probably null	Het
Arhgef28	T	A	13: 98,166,391 (GRCm39)	D319V	probably damaging	Het
Brca2	A	G	5: 150,474,327 (GRCm39)	D2410G	probably damaging	Het
Carmil2	T	A	8: 106,419,063 (GRCm39)		probably null	Het
Catip	A	G	1: 74,403,775 (GRCm39)	N189S	probably damaging	Het
Cd177	T	C	7: 24,444,674 (GRCm39)	K636E	probably benign	Het
Cep290	A	G	10: 100,380,927 (GRCm39)	T145A	probably benign	Het
Cthrc1	T	C	15: 38,940,560 (GRCm39)		probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fas	C	A	19: 34,293,999 (GRCm39)	T118N	probably damaging	Het
Fgd3	G	A	13: 49,439,237 (GRCm39)	A253V	probably damaging	Het
Fig4	A	G	10: 41,161,277 (GRCm39)		probably benign	Het
Fubp3	T	C	2: 31,490,571 (GRCm39)		probably benign	Het
Gria2	T	A	3: 80,614,306 (GRCm39)	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,604,278 (GRCm39)	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,463,081 (GRCm39)		probably benign	Het
Ighv6-5	T	A	12: 114,380,424 (GRCm39)	D50V	probably benign	Het
Inpp5k	T	C	11: 75,524,010 (GRCm39)		probably benign	Het
Kalrn	T	C	16: 34,181,216 (GRCm39)	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,103,517 (GRCm39)	T389A	probably benign	Het
Klhl6	C	A	16: 19,775,832 (GRCm39)	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,286,314 (GRCm39)		probably benign	Het
Krt13	A	T	11: 100,010,195 (GRCm39)	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171 (GRCm39)	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,577,788 (GRCm39)	S297P	probably benign	Het
Ndufs1	G	A	1: 63,209,298 (GRCm39)	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,109,398 (GRCm39)	S115T	possibly damaging	Het
Nup50l	A	C	6: 96,141,771 (GRCm39)	S424R	probably damaging	Het
Pfpl	A	T	19: 12,406,209 (GRCm39)	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,187,944 (GRCm39)	I3455F	probably damaging	Het
Psme1	T	A	14: 55,818,595 (GRCm39)	Y223*	probably null	Het
R3hdm1	T	C	1: 128,124,836 (GRCm39)		probably null	Het
Rnf103	A	G	6: 71,486,809 (GRCm39)	D480G	probably benign	Het
Rnf103	T	G	6: 71,486,636 (GRCm39)	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,523,365 (GRCm39)	V213A	probably damaging	Het
Sort1	G	T	3: 108,233,036 (GRCm39)	K203N	probably benign	Het
Sugp1	A	T	8: 70,512,469 (GRCm39)	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,150,183 (GRCm39)	R176K	probably benign	Het
Usp34	T	A	11: 23,320,291 (GRCm39)	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,934,135 (GRCm39)	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,219,639 (GRCm39)	T303K	probably benign	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
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
R6685:Adcy5	UTSW	16	35,099,586 (GRCm39)	missense	possibly damaging	0.49
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

Posted On

2015-04-16