Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00235:Adcy5'

2103

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: 0.183) question?

Stock #

IGL00235

Quality Score

Status

Chromosome

Chromosomal Location

34975247-35126108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35073583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 454 (E454K)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

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

AlphaFold

P84309

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114913
AA Change: E454K

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

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: E454K

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,565,132 (GRCm39)	H1039R	probably benign	Het
Akap3	T	C	6: 126,842,694 (GRCm39)	F438L	probably benign	Het
Casp1	A	T	9: 5,299,872 (GRCm39)		probably benign	Het
Cnih2	G	T	19: 5,148,301 (GRCm39)		probably benign	Het
Dchs1	G	A	7: 105,407,950 (GRCm39)	R1961C	probably damaging	Het
Defb21	G	A	2: 152,416,712 (GRCm39)	V63I	probably benign	Het
Elovl6	T	A	3: 129,422,025 (GRCm39)	N105K	probably benign	Het
Fam83e	A	T	7: 45,376,493 (GRCm39)	E402V	probably benign	Het
Fat4	T	A	3: 39,036,398 (GRCm39)	I3350N	probably damaging	Het
Gmpr2	C	A	14: 55,913,171 (GRCm39)	F149L	probably damaging	Het
Gucy1b2	C	A	14: 62,643,694 (GRCm39)	V636F	probably damaging	Het
Hapln1	A	C	13: 89,756,261 (GRCm39)	Y355S	probably benign	Het
Hoxb13	G	T	11: 96,085,468 (GRCm39)	C67F	possibly damaging	Het
Hspa12b	T	A	2: 130,976,040 (GRCm39)	I14N	probably damaging	Het
Ighe	C	A	12: 113,235,135 (GRCm39)	V342L	unknown	Het
Ighv1-49	A	T	12: 115,019,076 (GRCm39)	S21T	possibly damaging	Het
Klhl17	A	G	4: 156,318,319 (GRCm39)	I101T	possibly damaging	Het
Lrrd1	T	G	5: 3,900,573 (GRCm39)	L293V	possibly damaging	Het
Lyrm4	T	A	13: 36,276,865 (GRCm39)	K44M	probably damaging	Het
Med15	G	T	16: 17,498,590 (GRCm39)	P101T	probably damaging	Het
Mgat4c	A	T	10: 102,224,581 (GRCm39)	H265L	probably damaging	Het
Mme	T	A	3: 63,247,465 (GRCm39)	I250N	possibly damaging	Het
Mxra8	C	A	4: 155,927,020 (GRCm39)	T318N	probably benign	Het
Nlrp9b	G	A	7: 19,757,203 (GRCm39)	V147I	probably benign	Het
Npepl1	G	T	2: 173,962,341 (GRCm39)	V336L	probably damaging	Het
Or1e23	G	A	11: 73,407,236 (GRCm39)	S263L	possibly damaging	Het
Pank2	T	C	2: 131,116,089 (GRCm39)	I169T	possibly damaging	Het
Pgap6	T	C	17: 26,336,493 (GRCm39)	S204P	probably damaging	Het
Pkhd1l1	A	T	15: 44,419,415 (GRCm39)	H2960L	probably damaging	Het
Pnpla8	A	G	12: 44,329,852 (GRCm39)	R135G	probably benign	Het
Prdm8	T	G	5: 98,331,202 (GRCm39)	V18G	probably damaging	Het
Rhox7b	G	T	X: 36,978,539 (GRCm39)	P231T	probably damaging	Het
Rnf121	A	T	7: 101,714,322 (GRCm39)		probably benign	Het
Skap1	T	C	11: 96,380,736 (GRCm39)	F45S	probably damaging	Het
Slc4a5	T	A	6: 83,262,881 (GRCm39)	L791Q	probably damaging	Het
Ssh1	T	C	5: 114,080,637 (GRCm39)	D931G	probably damaging	Het
Txndc16	T	C	14: 45,399,807 (GRCm39)	Y382C	probably damaging	Het
Uhrf2	T	C	19: 30,051,346 (GRCm39)	F307L	probably benign	Het
Zfhx2	C	A	14: 55,300,714 (GRCm39)	A2346S	probably benign	Het

Other mutations in Adcy5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-12-09