Mutagenetix > Incidental Mutation

Incidental Mutation 'R6947:Adcy4'

540943

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

MMRRC Submission

045060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56006514-56021552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56015848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 414 (T414A)

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

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

AlphaFold

Q91WF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002398
AA Change: T414A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: T414A

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

possibly damaging
Transcript: ENSMUST00000170223
AA Change: T414A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: T414A

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

Meta Mutation Damage Score

0.7760

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.0%

Validation Efficiency

100% (46/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	C	A	9: 90,073,857 (GRCm39)		probably null	Het
Bop1	A	G	15: 76,338,188 (GRCm39)	F561L	probably damaging	Het
Ccdc18	T	C	5: 108,309,401 (GRCm39)	V332A	probably benign	Het
Cep290	A	G	10: 100,365,918 (GRCm39)	T1042A	probably damaging	Het
Cnot8	G	T	11: 58,008,331 (GRCm39)	V266L	probably benign	Het
Cxxc4	C	T	3: 133,946,277 (GRCm39)	S286F	possibly damaging	Het
Cyp2d12	A	T	15: 82,443,248 (GRCm39)	I386L	probably benign	Het
Dgka	A	T	10: 128,568,884 (GRCm39)	I227N	probably damaging	Het
Eif2d	T	C	1: 131,092,404 (GRCm39)	V354A	probably benign	Het
Fgr	T	A	4: 132,722,380 (GRCm39)		probably null	Het
Idnk	A	G	13: 58,308,055 (GRCm39)		probably null	Het
Kmt2e	T	C	5: 23,702,543 (GRCm39)	S952P	probably damaging	Het
Kng1	A	G	16: 22,896,124 (GRCm39)	H343R	probably benign	Het
Lgals8	G	A	13: 12,469,682 (GRCm39)		probably benign	Het
Lrit3	T	A	3: 129,582,883 (GRCm39)	Q368L	probably benign	Het
Lypd8	A	T	11: 58,273,592 (GRCm39)	T24S	probably benign	Het
Map3k4	G	A	17: 12,479,456 (GRCm39)	Q704*	probably null	Het
Mcm3ap	A	G	10: 76,351,500 (GRCm39)	I1948V	probably benign	Het
Mettl25	A	G	10: 105,662,053 (GRCm39)	F306L	probably benign	Het
Mos	A	C	4: 3,871,585 (GRCm39)	V77G	probably damaging	Het
Muc4	C	T	16: 32,596,177 (GRCm39)	R3130C	possibly damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or1p4-ps1	C	T	11: 74,208,370 (GRCm39)	S173L	unknown	Het
Or5m10b	T	C	2: 85,699,271 (GRCm39)	F112L	probably benign	Het
Pcnx2	C	T	8: 126,577,021 (GRCm39)		probably null	Het
Pde10a	T	A	17: 9,188,424 (GRCm39)	I908N	probably damaging	Het
Plcb1	A	G	2: 135,228,075 (GRCm39)	K1058R	probably benign	Het
Rad17	A	T	13: 100,759,383 (GRCm39)	F548Y	probably damaging	Het
Rad54b	T	G	4: 11,569,859 (GRCm39)	S58R	possibly damaging	Het
Rbm20	G	A	19: 53,839,696 (GRCm39)	G895D	probably damaging	Het
Rgs22	T	C	15: 36,104,036 (GRCm39)		probably null	Het
Rhobtb3	A	G	13: 76,058,785 (GRCm39)	S338P	probably benign	Het
Ruvbl2	A	G	7: 45,074,373 (GRCm39)		probably null	Het
Slc16a12	A	G	19: 34,650,007 (GRCm39)	F343L	probably benign	Het
Slc22a28	A	G	19: 8,041,875 (GRCm39)	L444P	possibly damaging	Het
Slc44a4	A	T	17: 35,147,044 (GRCm39)	Q358L	probably null	Het
Sowaha	A	G	11: 53,369,225 (GRCm39)	F504L	probably benign	Het
Syne1	A	G	10: 5,125,789 (GRCm39)	L6035P	probably damaging	Het
Thbs2	A	T	17: 14,910,029 (GRCm39)	M190K	possibly damaging	Het
Tmem171	A	G	13: 98,824,950 (GRCm39)	F227L	possibly damaging	Het
Trp53	A	G	11: 69,479,307 (GRCm39)	K162E	possibly damaging	Het
Ttn	T	A	2: 76,724,732 (GRCm39)	K2098*	probably null	Het
Usp30	T	C	5: 114,241,821 (GRCm39)	S88P	probably benign	Het
Zfp276	C	A	8: 123,981,643 (GRCm39)	D63E	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
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
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'- GAAAAGGCTGGCTTTGTTGAC -3'
(R):5'- AATGGCCGGTTGAGTCTCTC -3'

Sequencing Primer
(F):5'- ACTAGGTGGTCTGCTTGGTCTAATC -3'
(R):5'- GTTCACAGTCCCTTCAGACAAGTG -3'

Posted On

2018-11-28