Mutagenetix > Incidental Mutation

Incidental Mutation 'R3882:Adcy4'

312826

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 #

R3882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56006514-56021552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56012003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 581 (F581L)

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

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

AlphaFold

Q91WF3

Predicted Effect

probably benign
Transcript: ENSMUST00000002398
AA Change: F581L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: F581L

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: ENSMUST00000170223
AA Change: F581L

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: F581L

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

Meta Mutation Damage Score

0.1514

Coding Region Coverage

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

Validation Efficiency

97% (33/34)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	T	9: 106,312,708 (GRCm39)	T181K	possibly damaging	Het
Amhr2	G	A	15: 102,354,333 (GRCm39)	G48D	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgef17	A	G	7: 100,525,661 (GRCm39)	F1979S	possibly damaging	Het
Bltp2	T	A	11: 78,153,526 (GRCm39)	W24R	probably damaging	Het
C2	T	C	17: 35,092,465 (GRCm39)	T191A	probably benign	Het
Cmya5	T	A	13: 93,227,727 (GRCm39)	T2454S	probably benign	Het
Dstn	A	G	2: 143,784,107 (GRCm39)	E150G	probably benign	Het
Dync1h1	G	T	12: 110,595,492 (GRCm39)	V1444F	probably benign	Het
Eif3f	T	C	7: 108,540,162 (GRCm39)	V319A	possibly damaging	Het
Gpha2	T	C	19: 6,276,919 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,421,420 (GRCm39)	V648A	possibly damaging	Het
Jup	A	G	11: 100,269,207 (GRCm39)	V402A	probably benign	Het
Kif18a	A	G	2: 109,137,319 (GRCm39)	N517S	probably benign	Het
Kif20b	T	A	19: 34,927,480 (GRCm39)	I874N	probably damaging	Het
Lepr	T	A	4: 101,672,462 (GRCm39)	V1162E	probably damaging	Het
Man2a2	A	T	7: 80,012,063 (GRCm39)	V698D	possibly damaging	Het
Miip	A	C	4: 147,945,509 (GRCm39)	S376A	possibly damaging	Het
Nsun7	G	A	5: 66,435,983 (GRCm39)	R285Q	probably damaging	Het
Nup210l	T	C	3: 90,031,517 (GRCm39)	V281A	probably benign	Het
Paxip1	C	T	5: 27,953,837 (GRCm39)	R953Q	probably damaging	Het
Pcdha8	C	A	18: 37,126,099 (GRCm39)	L194I	probably damaging	Het
Pcdha8	A	G	18: 37,126,624 (GRCm39)	I369V	probably benign	Het
Pcdhga10	C	A	18: 37,880,494 (GRCm39)	A85E	possibly damaging	Het
Ppfibp1	A	G	6: 146,899,719 (GRCm39)	R137G	possibly damaging	Het
Rcor1	C	T	12: 111,070,187 (GRCm39)	A230V	probably damaging	Het
Scn3a	T	C	2: 65,312,623 (GRCm39)	M1191V	probably benign	Het
Skor2	A	G	18: 76,950,384 (GRCm39)	D904G	probably damaging	Het
Suco	A	T	1: 161,662,313 (GRCm39)	V706E	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Vmn1r83	A	T	7: 12,055,329 (GRCm39)	C243S	probably damaging	Het
Wdr17	A	T	8: 55,092,536 (GRCm39)	C1083S	possibly damaging	Het
Zfp952	G	T	17: 33,220,949 (GRCm39)	E18*	probably null	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	Het
Zscan25	G	T	5: 145,227,862 (GRCm39)	G509C	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
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
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'- TATGCTCCAGAGGATGTGGG -3'
(R):5'- CTGTAGAATGAGTCATTAGGGTAGG -3'

Sequencing Primer
(F):5'- CTGCAGTGCTGGGGAAGGTAC -3'
(R):5'- GTTGTAAATGGAGTGGGGACATC -3'

Posted On

2015-04-30