Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Pde3a'

597440

Institutional Source

Beutler Lab

Gene Symbol

Pde3a

Ensembl Gene

ENSMUSG00000041741

Gene Name

phosphodiesterase 3A, cGMP inhibited

Synonyms

A930022O17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141249269-141507448 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141459249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 400 (E400V)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably benign
Transcript: ENSMUST00000043259
AA Change: E400V

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: E400V

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,304,843		probably null	Het
2410089E03Rik	C	A	15: 8,243,826	Q2534K	possibly damaging	Het
4930553M12Rik	A	T	4: 88,868,259	W41R	unknown	Het
Aatf	G	A	11: 84,511,509	S117L	possibly damaging	Het
Abca12	C	A	1: 71,302,887	V972L	probably benign	Het
Abcb11	T	A	2: 69,286,818	R495S	probably damaging	Het
Acss2	T	A	2: 155,561,166	H621Q	probably benign	Het
Akap9	T	C	5: 4,046,736	L2537P	probably benign	Het
Apbb1	C	T	7: 105,559,302	A597T	probably damaging	Het
Cacna1d	A	T	14: 30,075,852	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,413,117	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,587,375	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,281,092	K331E	probably damaging	Het
D430041D05Rik	A	T	2: 104,257,159	Y491N	probably benign	Het
Dnah6	T	C	6: 73,025,720	I3898V	probably benign	Het
Drd2	A	G	9: 49,404,977	T346A	probably benign	Het
Efcab9	T	C	11: 32,522,941	T169A	possibly damaging	Het
Fam163a	A	T	1: 156,079,983	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,438,563	D457N	probably benign	Het
Fbn1	A	T	2: 125,479,280		probably null	Het
Gpr37	A	T	6: 25,689,050	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,172,831	D265G	probably benign	Het
Idh1	G	T	1: 65,159,490	A407D	probably benign	Het
Ifna12	A	G	4: 88,603,178	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,734,250	M109V	probably benign	Het
Jag2	A	T	12: 112,915,469		probably null	Het
Lca5l	T	C	16: 96,159,561	D572G	unknown	Het
Lcn11	G	A	2: 25,777,818	V73I	probably benign	Het
Lrba	A	G	3: 86,445,397	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,813,238		probably null	Het
Malrd1	G	A	2: 15,797,799		probably null	Het
Morc2b	C	A	17: 33,137,244	G518V	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Myo5b	A	T	18: 74,634,559	T313S	probably benign	Het
Neto2	C	A	8: 85,669,700	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,434,303	V623I	probably damaging	Het
Olfr364-ps1	A	G	2: 37,146,846	I211M	possibly damaging	Het
Olfr371	T	A	8: 85,230,798	M101K	possibly damaging	Het
Olfr384	C	T	11: 73,603,506	Q309*	probably null	Het
Olfr603	C	A	7: 103,383,738	W88L	probably damaging	Het
Olfr825	T	G	10: 130,162,829	T166P	probably damaging	Het
Optc	A	G	1: 133,906,992	S15P	possibly damaging	Het
Otogl	A	G	10: 107,869,546	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,689,970	S5P	probably benign	Het
Pkhd1l1	A	G	15: 44,586,408	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,552,869		probably null	Het
Plxna4	G	T	6: 32,152,872	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,256,701	V89A	probably benign	Het
Rapgef3	T	C	15: 97,757,746	D420G	probably damaging	Het
Rnf17	T	A	14: 56,462,072		probably null	Het
Rps6ka2	T	A	17: 7,277,449		probably null	Het
Rptn	A	T	3: 93,395,921	D187V	probably damaging	Het
Rtn1	T	C	12: 72,308,429	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,265,045	H101L	probably benign	Het
Sept3	A	G	15: 82,290,773	N305S	probably benign	Het
Serpina3f	G	T	12: 104,217,306	K142N	possibly damaging	Het
Ssh1	C	A	5: 113,966,234	R116L	probably benign	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tlr6	T	C	5: 64,954,350	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,121,700	A70T	probably benign	Het
Ttn	A	T	2: 76,788,196	I16248N	probably damaging	Het
Ttn	A	T	2: 76,825,505		probably null	Het
Vldlr	A	T	19: 27,217,615	M1L	probably benign	Het
Wscd1	A	G	11: 71,784,365	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,357,703		probably null	Het
Zfp827	T	C	8: 79,190,329	V511A		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
R8037:Pde3a	UTSW	6	141483924	missense	possibly damaging	0.82
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'- CCAGCATCACTGTGGATATTGC -3'
(R):5'- TATCCCGGAACACTGAAAGAG -3'

Sequencing Primer
(F):5'- ATCACTGTGGATATTGCTGTGATG -3'
(R):5'- GGTAACAGTAAGCCATGTCTACTGTC -3'

Posted On

2019-11-26