Mutagenetix > Incidental Mutations

Incidental Mutation 'R7414:Adcy4'

575329

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55769057-55784095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55781633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 156 (L156F)

Ref Sequence

ENSEMBL: ENSMUSP00000002398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000022830] [ENSMUST00000168716] [ENSMUST00000170223] [ENSMUST00000178399] [ENSMUST00000227031] [ENSMUST00000228476]

AlphaFold

Q91WF3

Predicted Effect

probably benign
Transcript: ENSMUST00000002398
AA Change: L156F

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: L156F

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: ENSMUST00000022830

SMART Domains

Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221

Domain	Start	End	E-Value	Type
Pfam:Pkinase	22	288	2.8e-38	PFAM
Pfam:Pkinase_Tyr	22	288	3e-34	PFAM
Pfam:RHIM	408	458	2.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168716

SMART Domains

Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	223	1.2e-30	PFAM
Pfam:Pkinase_Tyr	1	224	3.1e-27	PFAM
Pfam:RHIM	344	395	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170223
AA Change: L156F

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: L156F

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

probably benign
Transcript: ENSMUST00000178399

SMART Domains

Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	223	1.2e-30	PFAM
Pfam:Pkinase_Tyr	1	224	3.1e-27	PFAM
Pfam:RHIM	344	395	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227031

Predicted Effect

probably benign
Transcript: ENSMUST00000228476

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (98/101)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,024	T90M	probably damaging	Het
4922502D21Rik	T	C	6: 129,325,633	T144A	probably benign	Het
Abca4	T	A	3: 122,102,738	S540T	probably benign	Het
Adcyap1	T	A	17: 93,202,828	L95M	probably damaging	Het
Ahctf1	T	C	1: 179,784,105	T567A	probably benign	Het
Ankrd26	T	C	6: 118,508,780	I1378V	possibly damaging	Het
Ankrd44	T	A	1: 54,667,380	H639L	probably damaging	Het
Arfrp1	C	T	2: 181,359,514	R189Q	possibly damaging	Het
Astn2	T	C	4: 65,540,956	D1126G	possibly damaging	Het
Bap1	G	C	14: 31,253,615	G139R	probably benign	Het
Bms1	C	T	6: 118,383,745	R1254Q	possibly damaging	Het
C330027C09Rik	T	C	16: 49,001,635	F209L	probably benign	Het
Ceacam15	A	G	7: 16,673,310	V94A	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Clock	T	C	5: 76,262,764	T87A	probably benign	Het
Cntrl	A	T	2: 35,165,467	I1706L	probably benign	Het
Cr2	C	A	1: 195,150,036	V981L	probably benign	Het
Cxcr6	G	A	9: 123,810,222	W103*	probably null	Het
Dld	A	T	12: 31,335,526	F272Y	probably damaging	Het
Dmrt2	T	A	19: 25,673,586	D45E	probably benign	Het
Eif2a	T	A	3: 58,526,081	L8*	probably null	Het
Epg5	G	T	18: 77,983,532	R1246L	possibly damaging	Het
Ets1	T	A	9: 32,752,857	C350*	probably null	Het
Fam135b	C	T	15: 71,478,256	R345Q	probably damaging	Het
Fam196a	G	T	7: 134,918,009	A264D	probably benign	Het
Fbn2	C	T	18: 58,096,050	R696H	probably damaging	Het
Gbf1	C	A	19: 46,283,358	Y159*	probably null	Het
Gcsam	T	C	16: 45,616,938		probably null	Het
Gmpr2	G	T	14: 55,672,802		probably null	Het
H2-T3	C	A	17: 36,187,383	V257L	not run	Het
Hadha	A	G	5: 30,126,612	F449L	possibly damaging	Het
Haus3	T	A	5: 34,166,133	I378L	probably benign	Het
Hdac7	T	A	15: 97,808,511	H272L	probably benign	Het
Icam5	T	C	9: 21,037,593	V747A	probably damaging	Het
Ifrd2	G	A	9: 107,590,171	V81M	possibly damaging	Het
Ipcef1	G	T	10: 6,890,673	C345*	probably null	Het
Ipmk	T	A	10: 71,381,294	F223I	probably damaging	Het
Itpr2	A	T	6: 146,373,208	N825K	probably benign	Het
Kazn	G	A	4: 142,109,338	T530I		Het
Kmt2d	C	T	15: 98,839,856	V5120M	unknown	Het
Krt6b	T	G	15: 101,679,014	D215A	probably benign	Het
Lgals12	T	C	19: 7,603,970	K124R	probably damaging	Het
Lpar6	T	A	14: 73,238,800	V67D	probably damaging	Het
Lrch3	T	C	16: 32,998,513	Y661H	probably damaging	Het
Lrrc32	A	T	7: 98,499,994	Q660H	probably benign	Het
Lurap1l	T	A	4: 80,953,754	H161Q	probably benign	Het
Map3k19	A	G	1: 127,838,452	I245T	probably damaging	Het
Mcf2l	T	A	8: 13,019,022	*1119K	probably null	Het
Mertk	C	A	2: 128,729,393	A89E	possibly damaging	Het
Mical3	A	T	6: 121,034,113	Y375N	probably damaging	Het
Myo15	T	A	11: 60,483,483	D121E		Het
N4bp2l1	T	A	5: 150,576,293	N116I	probably damaging	Het
Nbeal1	T	C	1: 60,194,597		probably null	Het
Nlrp12	A	T	7: 3,241,347	D178E	probably benign	Het
Nt5c2	C	A	19: 46,889,889	G444C	probably damaging	Het
Olfr38	T	A	6: 42,762,828	Y259N	probably damaging	Het
Olfr912	T	C	9: 38,581,468	F64L	probably benign	Het
Olfr978	T	A	9: 39,994,053	M81K	possibly damaging	Het
Pdcl2	A	C	5: 76,312,512	S220A	possibly damaging	Het
Pip5kl1	T	C	2: 32,578,235	S138P	possibly damaging	Het
Pkd1l1	A	T	11: 8,916,267	N979K		Het
Prkcb	A	T	7: 122,568,227	T387S	possibly damaging	Het
Pxdc1	A	G	13: 34,637,152		probably benign	Het
Sbf2	C	T	7: 110,314,064	E1668K	possibly damaging	Het
Sec16a	T	G	2: 26,423,631	T455P		Het
Sec24b	C	A	3: 130,009,865	V412F	probably benign	Het
Serpina3b	A	G	12: 104,132,886	N220S	probably benign	Het
Sgip1	C	T	4: 102,967,624	Q581*	probably null	Het
Shf	A	T	2: 122,359,582	I175N	possibly damaging	Het
Slc16a10	G	A	10: 40,141,996	T14M	probably benign	Het
Slc22a4	A	T	11: 53,997,428	M258K	probably benign	Het
Slfn8	A	T	11: 83,016,792	Y308*	probably null	Het
Slfnl1	T	C	4: 120,535,254	Y249H	probably damaging	Het
Smchd1	T	C	17: 71,475,079	Y29C	probably damaging	Het
Snai1	C	A	2: 167,538,668		probably null	Het
Sntg1	T	C	1: 8,448,065	Y368C	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Spop	G	A	11: 95,474,508	V126M	probably damaging	Het
Ssfa2	A	G	2: 79,644,728	K344E	possibly damaging	Het
Taar3	A	T	10: 23,949,817	Y87F	probably damaging	Het
Tarm1	C	A	7: 3,496,802	M177I	probably benign	Het
Tcerg1l	A	G	7: 138,218,057	F485L	probably damaging	Het
Thsd7b	A	T	1: 129,628,980	I435F	probably damaging	Het
Tiam2	A	G	17: 3,414,113	D39G	possibly damaging	Het
Tigd4	T	C	3: 84,593,821	V15A	probably benign	Het
Tll2	T	C	19: 41,103,829	D523G	probably damaging	Het
Tmem117	A	G	15: 94,714,895	D104G	probably damaging	Het
Tmem132b	T	C	5: 125,787,491	L887P	probably damaging	Het
Tnfrsf26	A	T	7: 143,614,905	V132D	probably damaging	Het
Tomt	T	A	7: 101,900,508	D191V	probably damaging	Het
Ttc39b	T	C	4: 83,242,222	M373V	probably damaging	Het
Ttn	G	A	2: 76,738,149	P27467S	possibly damaging	Het
Ttn	A	C	2: 76,742,786	V25921G	probably damaging	Het
Ubxn2a	A	C	12: 4,891,381	V75G	probably damaging	Het
Uchl5	A	T	1: 143,806,695	K319N	unknown	Het
Ugt2b1	T	C	5: 86,925,834	D222G	probably damaging	Het
Vmn1r213	A	G	13: 23,011,276	I10V	unknown	Het
Vps13b	T	C	15: 35,910,827	I3579T	probably damaging	Het
Xpo5	T	A	17: 46,221,369	H443Q	probably benign	Het
Zfp316	A	G	5: 143,264,652	M2T	unknown	Het
Zscan4-ps2	A	G	7: 11,517,432	T160A	possibly damaging	Het

Other mutations in Adcy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Adcy4	APN	14	55773663	splice site	probably null
IGL02406:Adcy4	APN	14	55770047	missense	possibly damaging	0.45
IGL02503:Adcy4	APN	14	55771505	missense	probably damaging	1.00
IGL02543:Adcy4	APN	14	55769170	missense	probably benign
IGL02616:Adcy4	APN	14	55783514	splice site	probably null
IGL03002:Adcy4	APN	14	55773556	missense	probably benign	0.31
IGL03026:Adcy4	APN	14	55778010	missense	probably damaging	1.00
IGL03190:Adcy4	APN	14	55779053	missense	probably damaging	1.00
IGL03247:Adcy4	APN	14	55770096	missense	probably damaging	1.00
stressed	UTSW	14	55779099	splice site	probably null
IGL03098:Adcy4	UTSW	14	55781581	missense	probably null	0.82
R0098:Adcy4	UTSW	14	55769827	missense	possibly damaging	0.78
R0102:Adcy4	UTSW	14	55771533	missense	probably benign	0.29
R0396:Adcy4	UTSW	14	55772288	missense	probably benign	0.00
R0482:Adcy4	UTSW	14	55774572	critical splice acceptor site	probably null
R0634:Adcy4	UTSW	14	55781597	missense	probably benign
R0691:Adcy4	UTSW	14	55772647	splice site	probably benign
R0704:Adcy4	UTSW	14	55772756	missense	probably benign
R0815:Adcy4	UTSW	14	55783599	missense	probably damaging	1.00
R0863:Adcy4	UTSW	14	55783599	missense	probably damaging	1.00
R1446:Adcy4	UTSW	14	55770023	critical splice donor site	probably null
R1462:Adcy4	UTSW	14	55778308	missense	possibly damaging	0.78
R1462:Adcy4	UTSW	14	55778308	missense	possibly damaging	0.78
R1463:Adcy4	UTSW	14	55778939	missense	probably damaging	1.00
R1624:Adcy4	UTSW	14	55781927	missense	possibly damaging	0.68
R1799:Adcy4	UTSW	14	55771472	missense	probably benign	0.01
R1878:Adcy4	UTSW	14	55769905	missense	probably damaging	0.96
R2007:Adcy4	UTSW	14	55778313	missense	possibly damaging	0.45
R2156:Adcy4	UTSW	14	55769170	missense	probably benign	0.09
R2425:Adcy4	UTSW	14	55778017	missense	probably damaging	0.99
R2517:Adcy4	UTSW	14	55781946	missense	probably damaging	1.00
R3882:Adcy4	UTSW	14	55774546	missense	probably benign	0.27
R4021:Adcy4	UTSW	14	55775178	splice site	probably null
R4022:Adcy4	UTSW	14	55775178	splice site	probably null
R4411:Adcy4	UTSW	14	55769443	missense	probably damaging	1.00
R4530:Adcy4	UTSW	14	55779028	missense	probably damaging	1.00
R4560:Adcy4	UTSW	14	55778950	splice site	probably null
R4704:Adcy4	UTSW	14	55775025	missense	possibly damaging	0.91
R4780:Adcy4	UTSW	14	55775036	missense	probably benign	0.07
R4860:Adcy4	UTSW	14	55781927	missense	possibly damaging	0.68
R4860:Adcy4	UTSW	14	55781927	missense	possibly damaging	0.68
R4868:Adcy4	UTSW	14	55773722	missense	probably benign
R4890:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4920:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4948:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4952:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4953:Adcy4	UTSW	14	55779029	missense	probably damaging	1.00
R4987:Adcy4	UTSW	14	55773477	missense	probably benign	0.01
R4991:Adcy4	UTSW	14	55773465	missense	probably benign	0.03
R5080:Adcy4	UTSW	14	55772375	missense	probably damaging	0.98
R5620:Adcy4	UTSW	14	55772367	nonsense	probably null
R5652:Adcy4	UTSW	14	55773443	missense	probably benign
R5726:Adcy4	UTSW	14	55783661	missense	probably damaging	1.00
R5910:Adcy4	UTSW	14	55779013	missense	probably damaging	1.00
R5958:Adcy4	UTSW	14	55779099	splice site	probably null
R6280:Adcy4	UTSW	14	55779043	missense	probably damaging	1.00
R6318:Adcy4	UTSW	14	55769224	missense	probably damaging	1.00
R6598:Adcy4	UTSW	14	55770045	missense	probably benign	0.03
R6947:Adcy4	UTSW	14	55778391	missense	possibly damaging	0.92
R7012:Adcy4	UTSW	14	55779919	missense	possibly damaging	0.95
R7147:Adcy4	UTSW	14	55779725	missense	probably damaging	1.00
R7386:Adcy4	UTSW	14	55778327	missense	probably damaging	1.00
R7431:Adcy4	UTSW	14	55772672	missense	probably benign	0.01
R7490:Adcy4	UTSW	14	55770433	missense	possibly damaging	0.66
R7552:Adcy4	UTSW	14	55773465	missense	probably benign	0.00
R7672:Adcy4	UTSW	14	55780905	missense	probably benign	0.14
R8003:Adcy4	UTSW	14	55781635	missense	probably benign	0.00
R8042:Adcy4	UTSW	14	55775239	missense	probably benign	0.01
R8100:Adcy4	UTSW	14	55772265	nonsense	probably null
R8343:Adcy4	UTSW	14	55775240	missense	probably benign	0.02
R8801:Adcy4	UTSW	14	55771995	missense	probably benign	0.05
R8811:Adcy4	UTSW	14	55772764	missense	probably benign
R8993:Adcy4	UTSW	14	55771378	missense	probably null	1.00
R8993:Adcy4	UTSW	14	55778699	missense	probably damaging	1.00
R9026:Adcy4	UTSW	14	55778969	missense	probably damaging	1.00
X0025:Adcy4	UTSW	14	55770391	missense	probably damaging	1.00
Z1088:Adcy4	UTSW	14	55780956	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GCCCTCTTCTGACAAAGGTAG -3'
(R):5'- CAAATTTAGACCCTGGGCGC -3'

Sequencing Primer
(F):5'- CCTCTTCTGACAAAGGTAGGCATG -3'
(R):5'- TTAGACCCTGGGCGCAACATC -3'

Posted On

2019-10-07