Mutagenetix > Incidental Mutation

Incidental Mutation 'R4398:Adcy5'

325608

Institutional Source

Beutler Lab

Gene Symbol

Adcy5

Ensembl Gene

ENSMUSG00000022840

Gene Name

adenylate cyclase 5

Synonyms

AC5

MMRRC Submission

041130-MU

Accession Numbers

Essential gene?

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

Stock #

R4398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34975247-35126108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35089363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 520 (C520Y)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

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

AlphaFold

P84309

Predicted Effect

probably damaging
Transcript: ENSMUST00000114913
AA Change: C520Y

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

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: C520Y

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

Meta Mutation Damage Score

0.9751

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

96% (53/55)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	C	A	15: 94,231,576 (GRCm39)	R871L	possibly damaging	Het
AI661453	G	A	17: 47,779,042 (GRCm39)		probably benign	Het
Bptf	T	C	11: 107,001,670 (GRCm39)	K481E	probably damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Ctc1	C	T	11: 68,913,697 (GRCm39)	P200S	probably damaging	Het
Dact1	T	C	12: 71,363,959 (GRCm39)	Y210H	probably damaging	Het
Dbn1	T	C	13: 55,623,194 (GRCm39)	T430A	probably benign	Het
Dmd	A	C	X: 82,765,624 (GRCm39)	T657P	probably benign	Het
Efnb2	C	T	8: 8,670,832 (GRCm39)	R256H	possibly damaging	Het
Eif4a1	T	C	11: 69,560,070 (GRCm39)	I116M	possibly damaging	Het
F730035P03Rik	A	T	7: 99,429,475 (GRCm39)		noncoding transcript	Het
Fbn1	C	T	2: 125,239,701 (GRCm39)	V329I	probably benign	Het
Gpr20	G	A	15: 73,568,125 (GRCm39)	T88I	probably benign	Het
Herc1	T	G	9: 66,386,735 (GRCm39)	V3783G	probably benign	Het
Khdc1a	A	G	1: 21,420,617 (GRCm39)	D79G	possibly damaging	Het
Klk1b16	A	T	7: 43,790,851 (GRCm39)	I218F	probably damaging	Het
Malrd1	C	T	2: 16,155,594 (GRCm39)	T2001I	unknown	Het
Mia3	A	G	1: 183,111,733 (GRCm39)	S556P	probably damaging	Het
Myo3a	T	A	2: 22,467,854 (GRCm39)	D369E	probably benign	Het
Nelfa	T	C	5: 34,058,623 (GRCm39)	D279G	possibly damaging	Het
Ntrk3	A	T	7: 77,900,517 (GRCm39)	C607*	probably null	Het
Or13a20	T	C	7: 140,232,741 (GRCm39)	V283A	possibly damaging	Het
Pclo	A	T	5: 14,825,380 (GRCm39)	Q1371L	probably damaging	Het
Pdzd2	A	T	15: 12,376,061 (GRCm39)	V1358E	probably benign	Het
Pgr	T	C	9: 8,903,750 (GRCm39)		probably null	Het
Prag1	A	G	8: 36,570,809 (GRCm39)	D464G	probably damaging	Het
Prickle4	A	G	17: 48,001,456 (GRCm39)		probably benign	Het
Prim2	A	G	1: 33,551,192 (GRCm39)	Y309H	probably damaging	Het
Prkaa1	A	G	15: 5,206,642 (GRCm39)	Q464R	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rint1	T	A	5: 23,999,445 (GRCm39)	I78K	possibly damaging	Het
Rnf130	T	A	11: 49,962,205 (GRCm39)	F217Y	probably benign	Het
Smad7	T	C	18: 75,527,234 (GRCm39)	V360A	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Stag1	A	G	9: 100,838,659 (GRCm39)		probably benign	Het
Tlr12	T	A	4: 128,509,988 (GRCm39)	D754V	probably benign	Het
Tmf1	G	A	6: 97,155,857 (GRCm39)	P43L	probably damaging	Het
Togaram1	A	G	12: 65,027,630 (GRCm39)	N873S	probably benign	Het
Tsn	C	T	1: 118,238,799 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,882,289 (GRCm39)	K250R	probably damaging	Het
Vmn1r25	A	T	6: 57,955,812 (GRCm39)	V159D	probably damaging	Het
Vmn2r89	T	C	14: 51,689,551 (GRCm39)	L18P	probably damaging	Het
Vps8	T	G	16: 21,323,216 (GRCm39)	N689K	probably damaging	Het
Ythdc1	T	A	5: 86,963,513 (GRCm39)	D30E	possibly damaging	Het
Ythdc1	G	T	5: 86,983,679 (GRCm39)		probably benign	Het
Zfp407	G	A	18: 84,580,856 (GRCm39)	Q86*	probably null	Het
Zfp521	C	T	18: 13,979,601 (GRCm39)	E271K	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGGCTGACTGTGACCAATCC -3'
(R):5'- TGAGGTACAGAACTAGCCGG -3'

Sequencing Primer
(F):5'- GACTGTGACCAATCCCTGCC -3'
(R):5'- AGAACTAGCCGGCAGCCTAG -3'

Posted On

2015-07-06