Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02119:Pde3a'

280521

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: 0.272) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

141194995-141452588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141405529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 460 (S460R)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043259
AA Change: S460R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: S460R

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,158,344 (GRCm39)		probably null	Het
Acsbg2	T	C	17: 57,175,459 (GRCm39)		probably benign	Het
Ap3b1	T	C	13: 94,598,911 (GRCm39)	V495A	probably benign	Het
Astn1	T	C	1: 158,338,724 (GRCm39)		probably benign	Het
Bora	A	G	14: 99,290,974 (GRCm39)	D94G	probably damaging	Het
Bpifb9b	G	T	2: 154,155,544 (GRCm39)	V348L	possibly damaging	Het
Cd160	A	T	3: 96,716,139 (GRCm39)	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,274,265 (GRCm39)	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,044,559 (GRCm39)	V380D	probably damaging	Het
Fat4	C	T	3: 39,037,088 (GRCm39)	A3580V	probably benign	Het
Filip1	A	G	9: 79,725,548 (GRCm39)	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,511 (GRCm39)	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,268,908 (GRCm39)	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,295,588 (GRCm39)	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,385,498 (GRCm39)		probably null	Het
Gsn	G	T	2: 35,192,507 (GRCm39)	R485L	probably damaging	Het
Havcr1	A	G	11: 46,666,320 (GRCm39)	Y261C	probably damaging	Het
Maneal	A	T	4: 124,752,960 (GRCm39)	I229N	probably benign	Het
Med24	A	T	11: 98,619,661 (GRCm39)	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,825,056 (GRCm39)		probably benign	Het
Noa1	T	A	5: 77,455,426 (GRCm39)	Q430L	probably benign	Het
Or1l4	C	A	2: 37,091,281 (GRCm39)	S9R	possibly damaging	Het
Or5d47	T	A	2: 87,804,754 (GRCm39)	N85I	probably benign	Het
Or7g12	T	C	9: 18,899,908 (GRCm39)	V208A	probably benign	Het
Or8h9	T	C	2: 86,789,527 (GRCm39)	I92V	probably benign	Het
Pdzd8	T	C	19: 59,288,922 (GRCm39)	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,311,730 (GRCm39)	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,408,734 (GRCm39)	F200I	probably damaging	Het
Prodh2	T	C	7: 30,205,929 (GRCm39)	V208A	probably damaging	Het
Ranbp10	T	C	8: 106,553,635 (GRCm39)	D89G	probably damaging	Het
Rbm33	T	A	5: 28,544,015 (GRCm39)	S90R	probably damaging	Het
Slc44a4	A	C	17: 35,147,637 (GRCm39)	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,059,014 (GRCm39)	I174F	probably damaging	Het
Smim17	T	C	7: 6,430,160 (GRCm39)		probably benign	Het
Tln1	T	C	4: 43,546,760 (GRCm39)	E872G	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733 (GRCm38)	L625S	probably damaging	Het
Vmn2r59	A	G	7: 41,695,593 (GRCm39)	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Whrn	T	G	4: 63,353,724 (GRCm39)	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,730,154 (GRCm39)	V399A	probably benign	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
IGL01400:Pde3a	APN	6	141,404,954 (GRCm39)	missense	probably benign	0.02
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
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

2015-04-16