Mutagenetix > Incidental Mutation

Incidental Mutation 'R6968:Pde3a'

542104

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 #

R6968 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141249269-141507448 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141487932 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 847 (F847L)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043259
AA Change: F847L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: F847L

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

Meta Mutation Damage Score

0.8513

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

97% (57/59)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	T	2: 103,089,453	L125F	possibly damaging	Het
Arfgef1	T	C	1: 10,153,678	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,153,679	Q1465K	probably damaging	Het
Arhgef5	T	C	6: 43,275,342	V1009A	probably benign	Het
Armc4	T	C	18: 7,273,155		probably null	Het
Asah2	A	T	19: 32,012,513	I489K	probably benign	Het
Bace1	A	G	9: 45,854,965		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Ccdc162	T	C	10: 41,673,844	T348A	possibly damaging	Het
Cdkn2aip	C	A	8: 47,713,887		probably benign	Het
Cep78	A	C	19: 15,981,738	F111V	probably benign	Het
Chd4	T	A	6: 125,108,318	L784Q	probably damaging	Het
Chrna6	C	T	8: 27,406,655	C398Y	probably benign	Het
Cmip	T	C	8: 117,377,156	Y128H	probably damaging	Het
Cpne2	C	T	8: 94,548,502	P46L	probably damaging	Het
Cyp2w1	A	G	5: 139,353,991	Q112R	probably damaging	Het
Entpd3	A	T	9: 120,560,656	E336V	probably benign	Het
Fbxw28	A	C	9: 109,330,788	S197A	probably benign	Het
Foxk2	T	C	11: 121,260,482	F118L	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hinfp	A	C	9: 44,297,985	S306A	probably benign	Het
Hspg2	T	A	4: 137,535,156	V1663E	probably damaging	Het
Inpp4b	T	C	8: 81,844,457	I125T	probably benign	Het
Jag2	C	T	12: 112,914,258	E592K	probably benign	Het
Krt23	T	A	11: 99,481,074	E317V	probably damaging	Het
Ltbp2	C	T	12: 84,789,083		probably null	Het
Mast4	G	T	13: 102,798,078	N152K	probably damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mier2	G	A	10: 79,540,642		probably benign	Het
Mmp9	A	G	2: 164,952,940	T584A	probably benign	Het
Necab1	T	C	4: 14,957,852	E335G	probably damaging	Het
Nlrp9b	T	A	7: 20,049,508	N925K	probably damaging	Het
Nr4a2	T	C	2: 57,108,746		probably null	Het
Nrg2	T	C	18: 36,196,446	I239V	probably benign	Het
Nsun2	A	G	13: 69,631,290	D562G	probably benign	Het
Olfr391-ps	A	G	11: 73,799,379	I126T	possibly damaging	Het
Ormdl3	T	A	11: 98,584,115	M1L	probably benign	Het
Pcdh10	T	A	3: 45,379,542	V97D	probably damaging	Het
Ppp1r13b	C	A	12: 111,833,178	V722F	possibly damaging	Het
Rhoh	A	G	5: 65,892,519	D44G	possibly damaging	Het
Riox1	C	T	12: 83,951,373	R228C	probably damaging	Het
Rtl1	C	T	12: 109,594,679	R242Q	unknown	Het
Saxo2	T	C	7: 82,643,761	T43A	probably damaging	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Sema3f	C	T	9: 107,691,449		probably null	Het
Snap25	T	C	2: 136,769,770	M64T	probably benign	Het
Spef2	T	C	15: 9,597,340	N1410S	probably benign	Het
Sstr2	T	C	11: 113,624,948	I231T	probably damaging	Het
Stam	A	T	2: 14,116,018	H78L	probably damaging	Het
Suox	C	T	10: 128,671,833	V109I	possibly damaging	Het
Syne1	T	C	10: 5,117,041	R7075G	probably benign	Het
Tenm3	C	T	8: 48,236,439	D2038N	probably damaging	Het
Tln1	C	T	4: 43,550,217	R482Q	probably benign	Het
Tnrc6a	T	C	7: 123,182,427	V1440A	probably benign	Het
Togaram2	A	G	17: 71,709,613	D655G	probably damaging	Het
Trgv2	A	T	13: 19,336,726	I66K	probably damaging	Het
Vmn1r113	A	T	7: 20,787,951	I223F	probably damaging	Het
Vmn2r62	T	A	7: 42,788,442	H206L	probably benign	Het
Zan	T	A	5: 137,461,813	Y1272F	unknown	Het
Zfp39	T	C	11: 58,891,480	H152R	probably benign	Het
Zfp41	T	A	15: 75,618,461	Y87*	probably null	Het
Zfp933	A	T	4: 147,826,197	L314H	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
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
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'- TGACAGTGGATTTACACACGGAC -3'
(R):5'- GGCAACTGAGAAAAGACCTTTGTAC -3'

Sequencing Primer
(F):5'- TGGATTTACACACGGACACATG -3'
(R):5'- TGGCACAAACCATGACATCTTTGG -3'

Posted On

2018-11-28