Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00917:Adcy4'

28940

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00917

Quality Score

Status

Chromosome

Chromosomal Location

56006514-56021552 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 56011120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

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

AlphaFold

Q91WF3

Predicted Effect

probably null
Transcript: ENSMUST00000002398

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220

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 null
Transcript: ENSMUST00000170223

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220

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

noncoding transcript
Transcript: ENSMUST00000226575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228933

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 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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,241,107 (GRCm39)	V26E	probably benign	Het
Adgrl3	C	T	5: 81,841,421 (GRCm39)	T766I	possibly damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Atp8b4	A	T	2: 126,216,453 (GRCm39)	S664R	probably benign	Het
Cand1	A	C	10: 119,046,841 (GRCm39)	I883S	possibly damaging	Het
Cfap53	A	G	18: 74,432,367 (GRCm39)	D85G	probably benign	Het
Chd4	G	A	6: 125,081,909 (GRCm39)	R514Q	possibly damaging	Het
Cnst	T	C	1: 179,452,557 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,661,453 (GRCm39)		probably benign	Het
Cux2	A	C	5: 122,007,168 (GRCm39)	L831R	probably null	Het
Elf2	T	A	3: 51,215,467 (GRCm39)		probably benign	Het
Frey1	T	A	2: 92,213,563 (GRCm39)	S39T	probably benign	Het
Glp1r	A	G	17: 31,138,443 (GRCm39)		probably benign	Het
Hus1b	A	G	13: 31,131,527 (GRCm39)	M44T	probably benign	Het
Mbd6	A	G	10: 127,119,988 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,102,905 (GRCm39)		probably null	Het
Mmrn1	C	T	6: 60,952,894 (GRCm39)	Q392*	probably null	Het
Mrpl3	T	G	9: 104,934,240 (GRCm39)	V121G	probably damaging	Het
Or10am5	A	G	7: 6,517,577 (GRCm39)	S284P	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Palld	A	G	8: 61,968,969 (GRCm39)	V879A	possibly damaging	Het
Pkn2	G	T	3: 142,559,386 (GRCm39)	D46E	probably damaging	Het
Prkdc	T	A	16: 15,557,428 (GRCm39)	C2244S	probably damaging	Het
Prss50	T	A	9: 110,691,474 (GRCm39)	H259Q	possibly damaging	Het
Rab8b	C	T	9: 66,761,969 (GRCm39)	W102*	probably null	Het
Rad54l2	A	T	9: 106,587,638 (GRCm39)	L709Q	possibly damaging	Het
Rapgef1	T	C	2: 29,592,535 (GRCm39)	V471A	probably benign	Het
Rbms3	A	G	9: 116,939,183 (GRCm39)	S27P	probably damaging	Het
Rpl35a	A	G	16: 32,879,101 (GRCm39)	K73E	possibly damaging	Het
Sugct	A	T	13: 17,032,503 (GRCm39)	Y416*	probably null	Het
Top2b	A	G	14: 16,407,354 (GRCm38)	I713V	probably benign	Het
Unc79	A	T	12: 103,054,766 (GRCm39)	R777S	possibly damaging	Het
Vps37a	T	A	8: 40,993,779 (GRCm39)	M258K	probably benign	Het
Zfp944	G	A	17: 22,558,765 (GRCm39)	L161F	probably benign	Het

Other mutations in Adcy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4560:Adcy4	UTSW	14	56,016,407 (GRCm39)	splice site	probably null
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

Posted On

2013-04-17