Mutagenetix > Incidental Mutation

Incidental Mutation 'R6598:Adcy4'

525078

Institutional Source

Beutler Lab

Gene Symbol

Adcy4

Ensembl Gene

ENSMUSG00000022220

Gene Name

adenylate cyclase 4

Synonyms

MMRRC Submission

044722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6598 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56006514-56021552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56007502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 943 (S943T)

Ref Sequence

ENSEMBL: ENSMUSP00000130530 (fasta)

Gene Model

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

AlphaFold

Q91WF3

Predicted Effect

probably benign
Transcript: ENSMUST00000002398
AA Change: S943T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: S943T

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
AA Change: S943T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: S943T

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: ENSMUST00000228302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228933

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	G	13: 81,654,298 (GRCm39)	E2911A	probably damaging	Het
Ankrd28	A	G	14: 31,430,896 (GRCm39)	F819S	probably damaging	Het
Cald1	G	A	6: 34,723,575 (GRCm39)		probably null	Het
Clca3a2	G	T	3: 144,792,246 (GRCm39)	Y338*	probably null	Het
Cmya5	C	T	13: 93,226,316 (GRCm39)	G2924D	probably benign	Het
Col6a4	A	T	9: 105,877,611 (GRCm39)	L2122Q	probably damaging	Het
Dapk1	T	C	13: 60,909,161 (GRCm39)	F1258S	probably benign	Het
Ddx39a	T	C	8: 84,449,556 (GRCm39)	V387A	probably benign	Het
Dscam	A	G	16: 96,620,984 (GRCm39)	C575R	probably damaging	Het
Dyrk4	C	T	6: 126,853,289 (GRCm39)	V632M	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermp1	A	G	19: 29,609,902 (GRCm39)	S111P	possibly damaging	Het
Fbxo40	A	T	16: 36,789,376 (GRCm39)	L578Q	probably damaging	Het
Frem1	A	T	4: 82,932,065 (GRCm39)	F212Y	probably damaging	Het
Golm2	A	T	2: 121,763,966 (GRCm39)	E247D	probably damaging	Het
Golm2	G	A	2: 121,763,967 (GRCm39)	E383K	probably damaging	Het
Icos	T	G	1: 61,033,856 (GRCm39)	I162S	possibly damaging	Het
Kcnj8	G	T	6: 142,515,959 (GRCm39)	N49K	probably damaging	Het
Ldhb	A	T	6: 142,436,326 (GRCm39)	M281K	possibly damaging	Het
Med17	T	C	9: 15,182,996 (GRCm39)	K350E	probably benign	Het
Mpo	A	T	11: 87,690,798 (GRCm39)	N412I	probably benign	Het
Mrps24	A	T	11: 5,654,713 (GRCm39)	D80E	probably benign	Het
Myo5c	A	G	9: 75,153,516 (GRCm39)	D134G	probably damaging	Het
Ndufs1	T	C	1: 63,204,109 (GRCm39)	Q140R	probably null	Het
Nsd1	T	C	13: 55,441,515 (GRCm39)	V1662A	possibly damaging	Het
Or10ag53	C	T	2: 87,083,100 (GRCm39)	T273I	probably damaging	Het
Or5p51	G	A	7: 107,444,470 (GRCm39)	L157F	probably benign	Het
Or6c88	C	A	10: 129,407,238 (GRCm39)	T238N	probably damaging	Het
Polq	G	A	16: 36,881,993 (GRCm39)	A1386T	probably benign	Het
Ppil1	C	A	17: 29,480,852 (GRCm39)	V24F	probably benign	Het
Prim1	G	T	10: 127,856,049 (GRCm39)	V165L	possibly damaging	Het
Slc12a2	G	A	18: 58,031,145 (GRCm39)	V317I	probably benign	Het
Tbpl1	A	G	10: 22,583,748 (GRCm39)	V103A	probably damaging	Het
Tmprss11c	C	T	5: 86,437,092 (GRCm39)	E10K	probably benign	Het
Unc80	T	G	1: 66,507,699 (GRCm39)		probably null	Het
Uqcrc1	G	T	9: 108,776,690 (GRCm39)	V30F	possibly damaging	Het
Vmn1r88	T	C	7: 12,912,150 (GRCm39)	Y169H	probably damaging	Het
Zan	A	T	5: 137,404,626 (GRCm39)		probably benign	Het
Zc3h13	A	G	14: 75,569,623 (GRCm39)	D1490G	probably damaging	Het
Zer1	T	A	2: 30,003,286 (GRCm39)	S44C	probably damaging	Het
Zfp106	T	A	2: 120,365,541 (GRCm39)	K289*	probably null	Het
Zfp618	A	G	4: 63,007,636 (GRCm39)	Y155C	probably damaging	Het
Zfp979	A	G	4: 147,698,223 (GRCm39)	L162P	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
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
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'- GTTGATGACTCCCAGCTTAGACC -3'
(R):5'- ACAAGCCTGGTCCTTTAGCC -3'

Sequencing Primer
(F):5'- ATTCCACCATGGTGCCCAGATG -3'
(R):5'- GGTCCTTTAGCCTCCAAAGG -3'

Posted On

2018-06-22