Mutagenetix > Incidental Mutation

Incidental Mutation 'R7050:Adcy5'

547549

Institutional Source

Beutler Lab

Gene Symbol

Adcy5

Ensembl Gene

ENSMUSG00000022840

Gene Name

adenylate cyclase 5

Synonyms

AC5

MMRRC Submission

045241-MU

Accession Numbers

Essential gene?

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

Stock #

R7050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34975247-35126108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35124070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1250 (M1250L)

Ref Sequence

ENSEMBL: ENSMUSP00000110563 (fasta)

Gene Model

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

AlphaFold

P84309

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114913
AA Change: M1250L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110563
Gene: ENSMUSG00000022840
AA Change: M1250L

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

0.2918

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

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
Abca8b	G	A	11: 109,864,544 (GRCm39)	A346V	possibly damaging	Het
Arhgef38	T	C	3: 132,839,388 (GRCm39)		probably benign	Het
Ascc3	T	A	10: 50,716,446 (GRCm39)	I1944N	probably benign	Het
Cabin1	G	T	10: 75,549,376 (GRCm39)	P1343Q	probably damaging	Het
Cbr3	A	T	16: 93,487,282 (GRCm39)	Q155L	possibly damaging	Het
Cd44	A	G	2: 102,644,482 (GRCm39)	V577A	probably damaging	Het
Coil	C	T	11: 88,872,014 (GRCm39)	T125I	possibly damaging	Het
Fmo3	T	C	1: 162,791,473 (GRCm39)	N268S	probably damaging	Het
Fnip2	T	C	3: 79,413,577 (GRCm39)	T248A	probably damaging	Het
Ggt7	G	A	2: 155,348,295 (GRCm39)	T43I	probably benign	Het
Gm3250	C	A	10: 77,617,814 (GRCm39)	C188F	possibly damaging	Het
Iqce	G	A	5: 140,651,846 (GRCm39)	S375F	possibly damaging	Het
Iqgap3	A	G	3: 88,006,220 (GRCm39)	T544A	probably damaging	Het
Islr	A	G	9: 58,065,000 (GRCm39)	L169P	probably damaging	Het
Kdr	G	T	5: 76,110,780 (GRCm39)	T904N	probably damaging	Het
Mink1	A	G	11: 70,503,158 (GRCm39)	T974A	possibly damaging	Het
Mms19	A	G	19: 41,939,185 (GRCm39)		probably null	Het
Mycl	T	C	4: 122,890,813 (GRCm39)		probably null	Het
Nab1	A	T	1: 52,529,894 (GRCm39)	M1K	probably null	Het
Naip6	C	T	13: 100,452,007 (GRCm39)	G202R	probably damaging	Het
Nbeal2	G	A	9: 110,457,788 (GRCm39)	S2159L	probably damaging	Het
Neb	A	T	2: 52,112,888 (GRCm39)	M4302K	possibly damaging	Het
Npy1r	A	G	8: 67,157,192 (GRCm39)	D204G	probably benign	Het
Or2q1	T	A	6: 42,794,504 (GRCm39)	V33D	possibly damaging	Het
Pkdcc	T	A	17: 83,523,073 (GRCm39)	I60N	possibly damaging	Het
Plcxd3	T	C	15: 4,546,200 (GRCm39)	V68A	probably damaging	Het
Prss36	G	T	7: 127,543,937 (GRCm39)	R145S	possibly damaging	Het
Pygl	C	A	12: 70,266,396 (GRCm39)	G40C	probably damaging	Het
Rev1	A	G	1: 38,093,352 (GRCm39)	L1064P	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Serpina3k	T	C	12: 104,307,403 (GRCm39)	F212L	possibly damaging	Het
Slc16a4	A	T	3: 107,208,148 (GRCm39)	E219D	probably benign	Het
Slc6a20b	A	T	9: 123,427,608 (GRCm39)	W434R	probably damaging	Het
Slco1c1	T	A	6: 141,493,652 (GRCm39)	F278Y	probably damaging	Het
Tbx21	T	G	11: 97,005,596 (GRCm39)	D123A	probably benign	Het
Trp73	A	G	4: 154,165,899 (GRCm39)	F35L	probably damaging	Het
Tspan17	T	C	13: 54,943,876 (GRCm39)	V135A	probably benign	Het
Uba2	G	A	7: 33,845,687 (GRCm39)	Q479*	probably null	Het
Ubr2	A	G	17: 47,272,528 (GRCm39)	V889A	probably benign	Het
Unc80	A	G	1: 66,590,067 (GRCm39)		probably null	Het
Vinac1	T	C	2: 128,869,891 (GRCm39)		probably null	Het
Vmn1r45	A	T	6: 89,910,703 (GRCm39)	I89N	probably damaging	Het
Vmn2r11	A	G	5: 109,202,657 (GRCm39)	I140T	probably benign	Het
Yipf2	A	T	9: 21,503,474 (GRCm39)	D24E	probably benign	Het
Zfp251	T	G	15: 76,738,496 (GRCm39)	Q199P	possibly damaging	Het
Zfp37	A	T	4: 62,109,908 (GRCm39)	N385K	possibly damaging	Het
Zfp655	G	A	5: 145,181,545 (GRCm39)	E468K	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
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
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'- TCATTGTCCCCAAGAGCCAG -3'
(R):5'- TGCTTCTGAGTCAAAGTGGG -3'

Sequencing Primer
(F):5'- TCTCATGTCAGGGCAGCAACAG -3'
(R):5'- TGGGAATTTTACCAGCACAGC -3'

Posted On

2019-05-13