Mutagenetix > Incidental Mutation

Incidental Mutation 'R8037:Pde3a'

618288

Institutional Source

Beutler Lab

Gene Symbol

Pde3a

Ensembl Gene

ENSMUSG00000041741

Gene Name

phosphodiesterase 3A, cGMP inhibited

Synonyms

A930022O17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

R8037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141249269-141507448 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141483924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 737 (N737S)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043259]

AlphaFold

Q9Z0X4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043259
AA Change: N737S

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: N737S

Domain	Start	End	E-Value	Type
low complexity region	29	43	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
low complexity region	103	121	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC
transmembrane domain	230	252	N/A	INTRINSIC
low complexity region	419	445	N/A	INTRINSIC
low complexity region	520	544	N/A	INTRINSIC
HDc	749	964	3.76e-4	SMART
low complexity region	1028	1056	N/A	INTRINSIC
low complexity region	1114	1133	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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 cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display female infertility with oocyte arrest. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,293,904	W1922C	probably damaging	Het
Acad11	T	A	9: 104,075,836	I88N	possibly damaging	Het
Adgrf3	A	T	5: 30,199,512	C309S	probably damaging	Het
Ankhd1	T	A	18: 36,638,623	V1343E	probably damaging	Het
Aqr	A	T	2: 114,161,680	Y72N	probably damaging	Het
Bptf	T	C	11: 107,055,950	T2339A	probably damaging	Het
Ccr8	T	C	9: 120,094,370	F184L	probably benign	Het
Dbh	A	G	2: 27,165,688	D58G	probably damaging	Het
Depdc5	T	C	5: 32,959,348		probably null	Het
Dhdds	G	A	4: 133,996,847	T52I	probably benign	Het
Dnmt1	A	C	9: 20,941,564	V82G	probably damaging	Het
Efemp2	C	T	19: 5,480,113	Q290*	probably null	Het
Eipr1	A	G	12: 28,864,677	S277G	probably benign	Het
Fam110b	A	G	4: 5,799,511	I310V	possibly damaging	Het
Foxn4	T	C	5: 114,256,597	D423G	probably damaging	Het
Fsip2	T	A	2: 82,985,978	N4018K	possibly damaging	Het
Gm12887	T	A	4: 121,615,690	D85V	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm6583	A	G	5: 112,355,016	V274A	probably benign	Het
Gys2	A	G	6: 142,448,393	V473A	probably benign	Het
Hnrnpu	A	T	1: 178,332,352	F388Y	unknown	Het
Hoxa5	A	G	6: 52,204,329	S8P	probably damaging	Het
Ier5	A	T	1: 155,099,429	M1K	probably null	Het
Ighv1-52	A	G	12: 115,145,590	F83S	probably damaging	Het
Lrch1	T	C	14: 74,786,354	D577G	probably damaging	Het
Lrrk1	A	T	7: 66,285,341	M1010K	probably benign	Het
Mttp	T	G	3: 138,091,122	N873T	probably damaging	Het
Nphs2	A	G	1: 156,310,830	R15G	possibly damaging	Het
Olfr1155	T	C	2: 87,942,975	T218A	probably benign	Het
Olfr1242	A	T	2: 89,493,711	N200K	possibly damaging	Het
Olfr974	T	A	9: 39,942,881	V207D	probably damaging	Het
Pcdhga8	T	C	18: 37,727,018	S376P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Rin1	T	A	19: 5,051,824	L179Q	probably damaging	Het
Sec63	T	A	10: 42,783,487	M57K	probably benign	Het
Senp2	C	T	16: 22,014,138	Q59*	probably null	Het
St8sia5	G	A	18: 77,248,542	V224I	possibly damaging	Het
Sycp2	A	T	2: 178,403,778	D16E	probably damaging	Het
Tab1	A	G	15: 80,160,270	T500A	probably benign	Het
Tead1	A	G	7: 112,759,520	D13G	possibly damaging	Het
Tecpr2	T	C	12: 110,936,420	F860L	probably benign	Het
Tg	A	G	15: 66,688,875	M1029V	probably benign	Het
Tmem8	T	C	17: 26,117,535	L209P	possibly damaging	Het
Tnni2	A	G	7: 142,443,954	R109G	probably damaging	Het
Unc79	A	G	12: 103,049,919	K320R	probably damaging	Het
Vmn1r9	T	A	6: 57,071,003	V21D	probably benign	Het
Zfp64	A	G	2: 168,900,012	F332S	probably damaging	Het

Other mutations in Pde3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Pde3a	APN	6	141459738	missense	probably damaging	1.00
IGL01400:Pde3a	APN	6	141459228	missense	probably benign	0.02
IGL01752:Pde3a	APN	6	141487613	splice site	probably benign
IGL01819:Pde3a	APN	6	141487537	missense	probably damaging	1.00
IGL02014:Pde3a	APN	6	141459144	missense	probably null	1.00
IGL02119:Pde3a	APN	6	141459803	missense	probably damaging	0.97
IGL02465:Pde3a	APN	6	141249675	missense	possibly damaging	0.53
IGL02677:Pde3a	APN	6	141405172	splice site	probably benign
IGL02961:Pde3a	APN	6	141459700	nonsense	probably null
IGL03034:Pde3a	APN	6	141492400	splice site	probably benign
IGL03142:Pde3a	APN	6	141492299	missense	probably benign	0.01
PIT4305001:Pde3a	UTSW	6	141492310	missense	probably benign	0.04
R0412:Pde3a	UTSW	6	141498684	missense	probably damaging	1.00
R0517:Pde3a	UTSW	6	141498657	nonsense	probably null
R0573:Pde3a	UTSW	6	141492231	missense	probably damaging	1.00
R0621:Pde3a	UTSW	6	141249999	missense	probably damaging	1.00
R0781:Pde3a	UTSW	6	141459316	splice site	probably benign
R1065:Pde3a	UTSW	6	141476732	splice site	probably benign
R1110:Pde3a	UTSW	6	141459316	splice site	probably benign
R1462:Pde3a	UTSW	6	141459834	missense	probably benign	0.05
R1462:Pde3a	UTSW	6	141459834	missense	probably benign	0.05
R1470:Pde3a	UTSW	6	141466206	missense	probably benign	0.41
R1470:Pde3a	UTSW	6	141466206	missense	probably benign	0.41
R1480:Pde3a	UTSW	6	141487574	missense	probably benign	0.17
R1559:Pde3a	UTSW	6	141459098	missense	probably damaging	1.00
R1862:Pde3a	UTSW	6	141250353	missense	probably damaging	1.00
R1862:Pde3a	UTSW	6	141487513	missense	probably damaging	1.00
R1902:Pde3a	UTSW	6	141498770	missense	probably benign
R1909:Pde3a	UTSW	6	141250239	missense	probably benign	0.00
R2048:Pde3a	UTSW	6	141489006	splice site	probably benign
R2144:Pde3a	UTSW	6	141490111	missense	probably benign	0.40
R2155:Pde3a	UTSW	6	141483914	missense	possibly damaging	0.70
R2208:Pde3a	UTSW	6	141250347	missense	probably damaging	0.97
R2405:Pde3a	UTSW	6	141481242	missense	probably damaging	1.00
R4592:Pde3a	UTSW	6	141459216	missense	probably benign	0.13
R4677:Pde3a	UTSW	6	141466139	missense	probably benign	0.02
R4803:Pde3a	UTSW	6	141459086	missense	probably damaging	1.00
R4887:Pde3a	UTSW	6	141470942	missense	possibly damaging	0.94
R4999:Pde3a	UTSW	6	141250025	missense	probably benign	0.00
R5055:Pde3a	UTSW	6	141487956	nonsense	probably null
R5181:Pde3a	UTSW	6	141481255	critical splice donor site	probably null
R5640:Pde3a	UTSW	6	141483915	missense	probably damaging	0.99
R5694:Pde3a	UTSW	6	141250502	missense	possibly damaging	0.48
R6176:Pde3a	UTSW	6	141498889	missense	possibly damaging	0.96
R6394:Pde3a	UTSW	6	141487511	missense	probably damaging	1.00
R6692:Pde3a	UTSW	6	141479346	missense	probably damaging	1.00
R6968:Pde3a	UTSW	6	141487932	missense	probably damaging	1.00
R7137:Pde3a	UTSW	6	141498746	missense	probably benign	0.26
R7163:Pde3a	UTSW	6	141487544	missense	probably damaging	1.00
R7677:Pde3a	UTSW	6	141250257	missense	probably damaging	1.00
R7754:Pde3a	UTSW	6	141459249	missense	probably benign	0.32
R8123:Pde3a	UTSW	6	141466191	missense	probably benign	0.00
R8206:Pde3a	UTSW	6	141487885	missense	probably damaging	1.00
R8262:Pde3a	UTSW	6	141487801	missense	possibly damaging	0.89
R8376:Pde3a	UTSW	6	141481221	missense	possibly damaging	0.50
R8893:Pde3a	UTSW	6	141459796	missense	probably damaging	1.00
R9037:Pde3a	UTSW	6	141471106	missense	probably damaging	1.00
R9158:Pde3a	UTSW	6	141249888	missense	probably benign
R9222:Pde3a	UTSW	6	141492178	missense	probably damaging	1.00
R9318:Pde3a	UTSW	6	141479476	missense	probably benign	0.01
R9385:Pde3a	UTSW	6	141492256	missense	probably benign	0.30
X0053:Pde3a	UTSW	6	141483969	splice site	probably null
X0062:Pde3a	UTSW	6	141249984	missense	probably damaging	1.00
Z1177:Pde3a	UTSW	6	141250469	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CTCAGGACATGGAAGTCTTCAC -3'
(R):5'- CTGTGTGGTGAGTACAACAGTC -3'

Sequencing Primer
(F):5'- AAGTCTTCACTGTGTTTATTGGAAG -3'
(R):5'- TGGTGAGTACAACAGTCATAGACATC -3'

Posted On

2020-01-23