Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Adcy4'

226053

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

MMRRC Submission

038876-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

56006514-56021552 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 56010104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000057569] [ENSMUST00000170223]

AlphaFold

Q91WF3

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000057569

SMART Domains

Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	28	196	7.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	31	249	2e-8	PFAM
Pfam:7tm_1	37	285	1.3e-42	PFAM
Pfam:Serpentine_r_xa	54	201	2.8e-4	PFAM

Predicted Effect

probably benign
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

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,584,979 (GRCm39)	D865G	possibly damaging	Het
Acy1	A	T	9: 106,313,070 (GRCm39)		probably null	Het
Anpep	T	G	7: 79,489,047 (GRCm39)	D347A	probably damaging	Het
Arhgap28	C	T	17: 68,203,159 (GRCm39)		probably null	Het
Ccdc32	A	G	2: 118,857,610 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,400 (GRCm39)	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,319,939 (GRCm39)	Y958H	probably damaging	Het
Cenpe	A	G	3: 134,923,066 (GRCm39)	E137G	probably damaging	Het
Chd8	T	C	14: 52,450,890 (GRCm39)	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,271,692 (GRCm39)	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,385,574 (GRCm39)		probably null	Het
Cts7	A	G	13: 61,503,548 (GRCm39)	F139L	probably damaging	Het
Dera	T	C	6: 137,773,745 (GRCm39)		probably benign	Het
Dgka	A	G	10: 128,559,129 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,125 (GRCm39)	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,861,424 (GRCm39)		probably benign	Het
Fermt1	A	G	2: 132,748,653 (GRCm39)	S657P	probably damaging	Het
Fhip2b	T	C	14: 70,825,727 (GRCm39)	D351G	probably damaging	Het
Flnb	T	C	14: 7,890,810 (GRCm38)	V564A	probably benign	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gck	T	C	11: 5,856,691 (GRCm39)	R191G	probably damaging	Het
Gucy1b1	A	T	3: 81,952,941 (GRCm39)		probably benign	Het
Ifna2	A	C	4: 88,601,895 (GRCm39)	L41R	probably damaging	Het
Krt33a	T	G	11: 99,903,541 (GRCm39)	E197A	probably damaging	Het
Lce1e	G	A	3: 92,615,063 (GRCm39)	R95C	unknown	Het
Lct	G	T	1: 128,235,971 (GRCm39)	S345R	probably benign	Het
Lrp2	A	T	2: 69,281,724 (GRCm39)	N3882K	probably benign	Het
Mcc	G	T	18: 44,578,927 (GRCm39)	T652K	possibly damaging	Het
Mier1	A	G	4: 102,996,699 (GRCm39)	S109G	probably benign	Het
Nfat5	A	G	8: 108,082,237 (GRCm39)	N469S	probably damaging	Het
Or1e23	C	A	11: 73,407,670 (GRCm39)	M118I	possibly damaging	Het
Or6c214	G	A	10: 129,591,271 (GRCm39)	T16I	probably damaging	Het
Piwil1	G	T	5: 128,820,371 (GRCm39)	R256M	probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Sdk2	T	C	11: 113,685,746 (GRCm39)		probably null	Het
Sec22b	A	G	3: 97,819,990 (GRCm39)	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,036,669 (GRCm39)	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,199 (GRCm39)	S1310P	possibly damaging	Het
Spint1	A	G	2: 119,076,948 (GRCm39)	E344G	probably damaging	Het
Srrm1	G	A	4: 135,052,302 (GRCm39)	Q141*	probably null	Het
Tecta	A	T	9: 42,295,637 (GRCm39)	L286Q	probably damaging	Het
Tep1	T	A	14: 51,104,301 (GRCm39)	K198*	probably null	Het
Tk2	A	G	8: 104,957,824 (GRCm39)	V174A	probably benign	Het
Txndc5	T	C	13: 38,691,872 (GRCm39)	K165E	probably damaging	Het
Ubr4	G	A	4: 139,151,217 (GRCm39)	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 41,949,844 (GRCm39)	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,855,592 (GRCm39)	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,436,407 (GRCm39)	V223D	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAACACGCAGCAATGCATGGAG -3'
(R):5'- TGTGCCCAAGACATTTACTGCCC -3'

Sequencing Primer
(F):5'- AGAGGTAGGCACATCCCTTG -3'
(R):5'- AAGACATTTACTGCCCTTCAGC -3'

Posted On

2014-09-10