Mutagenetix > Incidental Mutation

Incidental Mutation 'R4560:Adcy4'

343060

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56006514-56021552 bp(-) (GRCm39)

Type of Mutation

splice site (4581 bp from exon)

DNA Base Change (assembly)

A to C at 56016407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000170223] [ENSMUST00000227031]

AlphaFold

Q91WF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000002398
AA Change: M348R

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

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: M348R

Domain	Start	End	E-Value	Type
low complexity region	28	48	N/A	INTRINSIC
low complexity region	66	80	N/A	INTRINSIC
low complexity region	145	161	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	2.4e-35	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170223
AA Change: M348R

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

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: M348R

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	61	80	N/A	INTRINSIC
transmembrane domain	92	114	N/A	INTRINSIC
transmembrane domain	119	138	N/A	INTRINSIC
transmembrane domain	145	162	N/A	INTRINSIC
transmembrane domain	172	194	N/A	INTRINSIC
CYCc	218	426	1.56e-62	SMART
Pfam:DUF1053	479	581	1.6e-24	PFAM
transmembrane domain	607	629	N/A	INTRINSIC
transmembrane domain	661	683	N/A	INTRINSIC
transmembrane domain	717	739	N/A	INTRINSIC
transmembrane domain	746	768	N/A	INTRINSIC
transmembrane domain	792	809	N/A	INTRINSIC
CYCc	835	1057	4.46e-40	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226361

Predicted Effect

probably null
Transcript: ENSMUST00000227031

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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 family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b1	A	T	18: 64,689,950 (GRCm39)	L594*	probably null	Het
Atp8b1	C	T	18: 64,701,318 (GRCm39)	V347I	probably benign	Het
Axin1	A	G	17: 26,392,745 (GRCm39)	D342G	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Capn10	T	C	1: 92,867,084 (GRCm39)	Y105H	probably damaging	Het
Ccdc89	T	G	7: 90,076,336 (GRCm39)	L182R	probably damaging	Het
Cdk5rap2	A	G	4: 70,233,568 (GRCm39)	F537S	probably benign	Het
Cidec	A	T	6: 113,405,399 (GRCm39)	M118K	probably damaging	Het
Cog8	A	T	8: 107,778,843 (GRCm39)		probably null	Het
Ctif	A	T	18: 75,652,952 (GRCm39)	L435Q	probably damaging	Het
Dhx9	A	G	1: 153,342,903 (GRCm39)	V533A	probably damaging	Het
Drc1	T	A	5: 30,520,441 (GRCm39)	M594K	probably benign	Het
Dthd1	C	T	5: 62,984,435 (GRCm39)	T380I	probably damaging	Het
Fat2	A	G	11: 55,156,777 (GRCm39)	S3475P	possibly damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Hcrtr2	A	G	9: 76,161,970 (GRCm39)	V140A	probably damaging	Het
Ikbke	C	T	1: 131,199,857 (GRCm39)	C243Y	probably damaging	Het
Il21	C	A	3: 37,279,633 (GRCm39)	E128*	probably null	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Me3	G	T	7: 89,498,938 (GRCm39)	R506L	probably benign	Het
Mtf2	T	A	5: 108,234,855 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,633,528 (GRCm39)	N2311S	probably benign	Het
Nomo1	G	T	7: 45,690,904 (GRCm39)	V97L	probably damaging	Het
Pcdhb11	G	A	18: 37,556,787 (GRCm39)	V706I	possibly damaging	Het
Pkhd1	G	A	1: 20,282,082 (GRCm39)	R2920C	probably damaging	Het
Prox2	T	C	12: 85,141,817 (GRCm39)	T129A	probably benign	Het
Rgs18	T	G	1: 144,631,720 (GRCm39)	I131L	probably benign	Het
Rnf19b	G	T	4: 128,965,616 (GRCm39)	C57F	probably damaging	Het
Rpl11	T	C	4: 135,778,522 (GRCm39)	Y122C	probably damaging	Het
Sarnp	A	G	10: 128,682,412 (GRCm39)	K5R	probably damaging	Het
Scg2	A	T	1: 79,412,898 (GRCm39)	H568Q	probably damaging	Het
Septin10	T	C	10: 59,019,417 (GRCm39)	Y150C	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Smco2	T	A	6: 146,772,674 (GRCm39)	V292D	possibly damaging	Het
Smok3c	A	G	5: 138,062,746 (GRCm39)	M78V	probably benign	Het
Spag16	C	A	1: 69,883,455 (GRCm39)	F61L	probably benign	Het
Spata22	G	A	11: 73,236,585 (GRCm39)	R297H	probably damaging	Het
Spata31d1e	A	G	13: 59,889,571 (GRCm39)	S750P	probably damaging	Het
Syt3	C	A	7: 44,045,368 (GRCm39)	P536Q	probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Trim9	A	C	12: 70,393,892 (GRCm39)	Y17*	probably null	Het
Tsga10	A	G	1: 37,846,163 (GRCm39)	M321T	probably benign	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ubxn1	C	T	19: 8,851,588 (GRCm39)	T207I	probably benign	Het
Vmn2r117	A	T	17: 23,678,851 (GRCm39)	V791D	probably damaging	Het
Vps54	C	G	11: 21,262,260 (GRCm39)	C785W	possibly damaging	Het
Zfp616	A	G	11: 73,973,860 (GRCm39)	D43G	probably benign	Het
Zfp952	A	G	17: 33,222,928 (GRCm39)	H469R	probably benign	Het

Other mutations in Adcy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Adcy4	APN	14	56,011,120 (GRCm39)	splice site	probably null
IGL02406:Adcy4	APN	14	56,007,504 (GRCm39)	missense	possibly damaging	0.45
IGL02503:Adcy4	APN	14	56,008,962 (GRCm39)	missense	probably damaging	1.00
IGL02543:Adcy4	APN	14	56,006,627 (GRCm39)	missense	probably benign
IGL02616:Adcy4	APN	14	56,020,971 (GRCm39)	splice site	probably null
IGL03002:Adcy4	APN	14	56,011,013 (GRCm39)	missense	probably benign	0.31
IGL03026:Adcy4	APN	14	56,015,467 (GRCm39)	missense	probably damaging	1.00
IGL03190:Adcy4	APN	14	56,016,510 (GRCm39)	missense	probably damaging	1.00
IGL03247:Adcy4	APN	14	56,007,553 (GRCm39)	missense	probably damaging	1.00
stressed	UTSW	14	56,016,556 (GRCm39)	splice site	probably null
IGL03098:Adcy4	UTSW	14	56,019,038 (GRCm39)	missense	probably null	0.82
R0098:Adcy4	UTSW	14	56,007,284 (GRCm39)	missense	possibly damaging	0.78
R0102:Adcy4	UTSW	14	56,008,990 (GRCm39)	missense	probably benign	0.29
R0396:Adcy4	UTSW	14	56,009,745 (GRCm39)	missense	probably benign	0.00
R0482:Adcy4	UTSW	14	56,012,029 (GRCm39)	critical splice acceptor site	probably null
R0634:Adcy4	UTSW	14	56,019,054 (GRCm39)	missense	probably benign
R0691:Adcy4	UTSW	14	56,010,104 (GRCm39)	splice site	probably benign
R0704:Adcy4	UTSW	14	56,010,213 (GRCm39)	missense	probably benign
R0815:Adcy4	UTSW	14	56,021,056 (GRCm39)	missense	probably damaging	1.00
R0863:Adcy4	UTSW	14	56,021,056 (GRCm39)	missense	probably damaging	1.00
R1446:Adcy4	UTSW	14	56,007,480 (GRCm39)	critical splice donor site	probably null
R1462:Adcy4	UTSW	14	56,015,765 (GRCm39)	missense	possibly damaging	0.78
R1462:Adcy4	UTSW	14	56,015,765 (GRCm39)	missense	possibly damaging	0.78
R1463:Adcy4	UTSW	14	56,016,396 (GRCm39)	missense	probably damaging	1.00
R1624:Adcy4	UTSW	14	56,019,384 (GRCm39)	missense	possibly damaging	0.68
R1799:Adcy4	UTSW	14	56,008,929 (GRCm39)	missense	probably benign	0.01
R1878:Adcy4	UTSW	14	56,007,362 (GRCm39)	missense	probably damaging	0.96
R2007:Adcy4	UTSW	14	56,015,770 (GRCm39)	missense	possibly damaging	0.45
R2156:Adcy4	UTSW	14	56,006,627 (GRCm39)	missense	probably benign	0.09
R2425:Adcy4	UTSW	14	56,015,474 (GRCm39)	missense	probably damaging	0.99
R2517:Adcy4	UTSW	14	56,019,403 (GRCm39)	missense	probably damaging	1.00
R3882:Adcy4	UTSW	14	56,012,003 (GRCm39)	missense	probably benign	0.27
R4021:Adcy4	UTSW	14	56,012,635 (GRCm39)	splice site	probably null
R4022:Adcy4	UTSW	14	56,012,635 (GRCm39)	splice site	probably null
R4411:Adcy4	UTSW	14	56,006,900 (GRCm39)	missense	probably damaging	1.00
R4530:Adcy4	UTSW	14	56,016,485 (GRCm39)	missense	probably damaging	1.00
R4704:Adcy4	UTSW	14	56,012,482 (GRCm39)	missense	possibly damaging	0.91
R4780:Adcy4	UTSW	14	56,012,493 (GRCm39)	missense	probably benign	0.07
R4860:Adcy4	UTSW	14	56,019,384 (GRCm39)	missense	possibly damaging	0.68
R4860:Adcy4	UTSW	14	56,019,384 (GRCm39)	missense	possibly damaging	0.68
R4868:Adcy4	UTSW	14	56,011,179 (GRCm39)	missense	probably benign
R4890:Adcy4	UTSW	14	56,016,486 (GRCm39)	missense	probably damaging	1.00
R4920:Adcy4	UTSW	14	56,016,486 (GRCm39)	missense	probably damaging	1.00
R4948:Adcy4	UTSW	14	56,016,486 (GRCm39)	missense	probably damaging	1.00
R4952:Adcy4	UTSW	14	56,016,486 (GRCm39)	missense	probably damaging	1.00
R4953:Adcy4	UTSW	14	56,016,486 (GRCm39)	missense	probably damaging	1.00
R4987:Adcy4	UTSW	14	56,010,934 (GRCm39)	missense	probably benign	0.01
R4991:Adcy4	UTSW	14	56,010,922 (GRCm39)	missense	probably benign	0.03
R5080:Adcy4	UTSW	14	56,009,832 (GRCm39)	missense	probably damaging	0.98
R5620:Adcy4	UTSW	14	56,009,824 (GRCm39)	nonsense	probably null
R5652:Adcy4	UTSW	14	56,010,900 (GRCm39)	missense	probably benign
R5726:Adcy4	UTSW	14	56,021,118 (GRCm39)	missense	probably damaging	1.00
R5910:Adcy4	UTSW	14	56,016,470 (GRCm39)	missense	probably damaging	1.00
R5958:Adcy4	UTSW	14	56,016,556 (GRCm39)	splice site	probably null
R6280:Adcy4	UTSW	14	56,016,500 (GRCm39)	missense	probably damaging	1.00
R6318:Adcy4	UTSW	14	56,006,681 (GRCm39)	missense	probably damaging	1.00
R6598:Adcy4	UTSW	14	56,007,502 (GRCm39)	missense	probably benign	0.03
R6947:Adcy4	UTSW	14	56,015,848 (GRCm39)	missense	possibly damaging	0.92
R7012:Adcy4	UTSW	14	56,017,376 (GRCm39)	missense	possibly damaging	0.95
R7147:Adcy4	UTSW	14	56,017,182 (GRCm39)	missense	probably damaging	1.00
R7386:Adcy4	UTSW	14	56,015,784 (GRCm39)	missense	probably damaging	1.00
R7414:Adcy4	UTSW	14	56,019,090 (GRCm39)	missense	probably benign	0.15
R7431:Adcy4	UTSW	14	56,010,129 (GRCm39)	missense	probably benign	0.01
R7490:Adcy4	UTSW	14	56,007,890 (GRCm39)	missense	possibly damaging	0.66
R7552:Adcy4	UTSW	14	56,010,922 (GRCm39)	missense	probably benign	0.00
R7672:Adcy4	UTSW	14	56,018,362 (GRCm39)	missense	probably benign	0.14
R8003:Adcy4	UTSW	14	56,019,092 (GRCm39)	missense	probably benign	0.00
R8042:Adcy4	UTSW	14	56,012,696 (GRCm39)	missense	probably benign	0.01
R8100:Adcy4	UTSW	14	56,009,722 (GRCm39)	nonsense	probably null
R8343:Adcy4	UTSW	14	56,012,697 (GRCm39)	missense	probably benign	0.02
R8801:Adcy4	UTSW	14	56,009,452 (GRCm39)	missense	probably benign	0.05
R8811:Adcy4	UTSW	14	56,010,221 (GRCm39)	missense	probably benign
R8993:Adcy4	UTSW	14	56,016,156 (GRCm39)	missense	probably damaging	1.00
R8993:Adcy4	UTSW	14	56,008,835 (GRCm39)	missense	probably null	1.00
R9026:Adcy4	UTSW	14	56,016,426 (GRCm39)	missense	probably damaging	1.00
X0025:Adcy4	UTSW	14	56,007,848 (GRCm39)	missense	probably damaging	1.00
Z1088:Adcy4	UTSW	14	56,018,413 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACGCATGTTGATATCCACACCG -3'
(R):5'- TCCAGGAATGCCACAGTTGC -3'

Sequencing Primer
(F):5'- GGTGGCTACCCGAAGTTTC -3'
(R):5'- GAATGCCACAGTTGCTCCCC -3'

Posted On

2015-09-24