Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01400:Pde3a'

79595

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde3a

Ensembl Gene

ENSMUSG00000041741

Gene Name

phosphodiesterase 3A, cGMP inhibited

Synonyms

A930022O17Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

IGL01400

Quality Score

Status

Chromosome

Chromosomal Location

141194995-141452588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141404954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 393 (N393S)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably benign
Transcript: ENSMUST00000043259
AA Change: N393S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: N393S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189060

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,390,960 (GRCm39)	I133N	probably damaging	Het
Abl2	T	G	1: 156,462,754 (GRCm39)	C510G	probably damaging	Het
Ambp	T	C	4: 63,070,959 (GRCm39)	Y40C	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arfgef3	G	A	10: 18,528,454 (GRCm39)	A311V	probably damaging	Het
Cass4	A	G	2: 172,269,220 (GRCm39)	D434G	probably damaging	Het
Cep250	A	C	2: 155,840,211 (GRCm39)	T2390P	possibly damaging	Het
Cpm	C	A	10: 117,495,680 (GRCm39)	N56K	probably benign	Het
Cspp1	T	C	1: 10,156,156 (GRCm39)	L455P	probably damaging	Het
Dcx	T	C	X: 142,714,150 (GRCm39)	K51E	possibly damaging	Het
Ehd3	T	C	17: 74,135,089 (GRCm39)	F322L	probably benign	Het
Ell	A	G	8: 71,031,563 (GRCm39)	D87G	probably damaging	Het
Epor	C	T	9: 21,870,735 (GRCm39)		probably null	Het
Exosc10	T	G	4: 148,649,728 (GRCm39)	M386R	probably damaging	Het
Gpr152	T	C	19: 4,193,626 (GRCm39)	I389T	probably benign	Het
Gvin3	T	A	7: 106,201,242 (GRCm39)	E667D	probably benign	Het
Kmo	T	A	1: 175,482,661 (GRCm39)	D328E	possibly damaging	Het
Llgl1	A	G	11: 60,597,316 (GRCm39)	H255R	probably damaging	Het
Lrch3	T	A	16: 32,799,911 (GRCm39)	H416Q	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mdm1	T	G	10: 117,993,156 (GRCm39)	H320Q	probably damaging	Het
Nol4	T	A	18: 22,956,555 (GRCm39)	H209L	probably damaging	Het
Or5p58	A	T	7: 107,694,046 (GRCm39)	C244S	probably damaging	Het
Pcdhac2	T	C	18: 37,279,339 (GRCm39)	V773A	possibly damaging	Het
Pik3r5	A	G	11: 68,385,373 (GRCm39)	K700R	probably benign	Het
Prob1	G	A	18: 35,786,386 (GRCm39)	R623C	possibly damaging	Het
Slc14a2	T	C	18: 78,235,428 (GRCm39)	N112D	probably damaging	Het
Snapc3	C	T	4: 83,368,414 (GRCm39)	P304S	probably damaging	Het
Spin2c	T	A	X: 152,616,621 (GRCm39)	W145R	probably damaging	Het
Tmem131l	T	C	3: 83,829,429 (GRCm39)	E1075G	probably damaging	Het
Trip12	C	T	1: 84,729,699 (GRCm39)	R995Q	probably damaging	Het
Trpm6	T	A	19: 18,803,158 (GRCm39)	L867*	probably null	Het
Vmn1r87	T	G	7: 12,866,230 (GRCm39)	H19P	probably damaging	Het
Vps16	A	G	2: 130,280,273 (GRCm39)	E139G	possibly damaging	Het

Other mutations in Pde3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Pde3a	APN	6	141,405,464 (GRCm39)	missense	probably damaging	1.00
IGL01752:Pde3a	APN	6	141,433,339 (GRCm39)	splice site	probably benign
IGL01819:Pde3a	APN	6	141,433,263 (GRCm39)	missense	probably damaging	1.00
IGL02014:Pde3a	APN	6	141,404,870 (GRCm39)	missense	probably null	1.00
IGL02119:Pde3a	APN	6	141,405,529 (GRCm39)	missense	probably damaging	0.97
IGL02465:Pde3a	APN	6	141,195,401 (GRCm39)	missense	possibly damaging	0.53
IGL02677:Pde3a	APN	6	141,350,898 (GRCm39)	splice site	probably benign
IGL02961:Pde3a	APN	6	141,405,426 (GRCm39)	nonsense	probably null
IGL03034:Pde3a	APN	6	141,438,126 (GRCm39)	splice site	probably benign
IGL03142:Pde3a	APN	6	141,438,025 (GRCm39)	missense	probably benign	0.01
PIT4305001:Pde3a	UTSW	6	141,438,036 (GRCm39)	missense	probably benign	0.04
R0412:Pde3a	UTSW	6	141,444,410 (GRCm39)	missense	probably damaging	1.00
R0517:Pde3a	UTSW	6	141,444,383 (GRCm39)	nonsense	probably null
R0573:Pde3a	UTSW	6	141,437,957 (GRCm39)	missense	probably damaging	1.00
R0621:Pde3a	UTSW	6	141,195,725 (GRCm39)	missense	probably damaging	1.00
R0781:Pde3a	UTSW	6	141,405,042 (GRCm39)	splice site	probably benign
R1065:Pde3a	UTSW	6	141,422,458 (GRCm39)	splice site	probably benign
R1110:Pde3a	UTSW	6	141,405,042 (GRCm39)	splice site	probably benign
R1462:Pde3a	UTSW	6	141,405,560 (GRCm39)	missense	probably benign	0.05
R1462:Pde3a	UTSW	6	141,405,560 (GRCm39)	missense	probably benign	0.05
R1470:Pde3a	UTSW	6	141,411,932 (GRCm39)	missense	probably benign	0.41
R1470:Pde3a	UTSW	6	141,411,932 (GRCm39)	missense	probably benign	0.41
R1480:Pde3a	UTSW	6	141,433,300 (GRCm39)	missense	probably benign	0.17
R1559:Pde3a	UTSW	6	141,404,824 (GRCm39)	missense	probably damaging	1.00
R1862:Pde3a	UTSW	6	141,433,239 (GRCm39)	missense	probably damaging	1.00
R1862:Pde3a	UTSW	6	141,196,079 (GRCm39)	missense	probably damaging	1.00
R1902:Pde3a	UTSW	6	141,444,496 (GRCm39)	missense	probably benign
R1909:Pde3a	UTSW	6	141,195,965 (GRCm39)	missense	probably benign	0.00
R2048:Pde3a	UTSW	6	141,434,732 (GRCm39)	splice site	probably benign
R2144:Pde3a	UTSW	6	141,435,837 (GRCm39)	missense	probably benign	0.40
R2155:Pde3a	UTSW	6	141,429,640 (GRCm39)	missense	possibly damaging	0.70
R2208:Pde3a	UTSW	6	141,196,073 (GRCm39)	missense	probably damaging	0.97
R2405:Pde3a	UTSW	6	141,426,968 (GRCm39)	missense	probably damaging	1.00
R4592:Pde3a	UTSW	6	141,404,942 (GRCm39)	missense	probably benign	0.13
R4677:Pde3a	UTSW	6	141,411,865 (GRCm39)	missense	probably benign	0.02
R4803:Pde3a	UTSW	6	141,404,812 (GRCm39)	missense	probably damaging	1.00
R4887:Pde3a	UTSW	6	141,416,668 (GRCm39)	missense	possibly damaging	0.94
R4999:Pde3a	UTSW	6	141,195,751 (GRCm39)	missense	probably benign	0.00
R5055:Pde3a	UTSW	6	141,433,682 (GRCm39)	nonsense	probably null
R5181:Pde3a	UTSW	6	141,426,981 (GRCm39)	critical splice donor site	probably null
R5640:Pde3a	UTSW	6	141,429,641 (GRCm39)	missense	probably damaging	0.99
R5694:Pde3a	UTSW	6	141,196,228 (GRCm39)	missense	possibly damaging	0.48
R6176:Pde3a	UTSW	6	141,444,615 (GRCm39)	missense	possibly damaging	0.96
R6394:Pde3a	UTSW	6	141,433,237 (GRCm39)	missense	probably damaging	1.00
R6692:Pde3a	UTSW	6	141,425,072 (GRCm39)	missense	probably damaging	1.00
R6968:Pde3a	UTSW	6	141,433,658 (GRCm39)	missense	probably damaging	1.00
R7137:Pde3a	UTSW	6	141,444,472 (GRCm39)	missense	probably benign	0.26
R7163:Pde3a	UTSW	6	141,433,270 (GRCm39)	missense	probably damaging	1.00
R7677:Pde3a	UTSW	6	141,195,983 (GRCm39)	missense	probably damaging	1.00
R7754:Pde3a	UTSW	6	141,404,975 (GRCm39)	missense	probably benign	0.32
R8037:Pde3a	UTSW	6	141,429,650 (GRCm39)	missense	possibly damaging	0.82
R8123:Pde3a	UTSW	6	141,411,917 (GRCm39)	missense	probably benign	0.00
R8206:Pde3a	UTSW	6	141,433,611 (GRCm39)	missense	probably damaging	1.00
R8262:Pde3a	UTSW	6	141,433,527 (GRCm39)	missense	possibly damaging	0.89
R8376:Pde3a	UTSW	6	141,426,947 (GRCm39)	missense	possibly damaging	0.50
R8893:Pde3a	UTSW	6	141,405,522 (GRCm39)	missense	probably damaging	1.00
R9037:Pde3a	UTSW	6	141,416,832 (GRCm39)	missense	probably damaging	1.00
R9158:Pde3a	UTSW	6	141,195,614 (GRCm39)	missense	probably benign
R9222:Pde3a	UTSW	6	141,437,904 (GRCm39)	missense	probably damaging	1.00
R9318:Pde3a	UTSW	6	141,425,202 (GRCm39)	missense	probably benign	0.01
R9385:Pde3a	UTSW	6	141,437,982 (GRCm39)	missense	probably benign	0.30
X0053:Pde3a	UTSW	6	141,429,695 (GRCm39)	splice site	probably null
X0062:Pde3a	UTSW	6	141,195,710 (GRCm39)	missense	probably damaging	1.00
Z1177:Pde3a	UTSW	6	141,196,195 (GRCm39)	missense	probably benign	0.39

Posted On

2013-11-05