Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Pde3a'

154482

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 #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

141194995-141452588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141433263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 765 (W765R)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043259
AA Change: W765R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: W765R

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2b	A	G	11: 62,156,010 (GRCm39)	N153S	possibly damaging	Het
Afm	C	T	5: 90,672,765 (GRCm39)	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,604,165 (GRCm39)	D397G	probably damaging	Het
Dnah9	A	G	11: 65,998,952 (GRCm39)	V1032A	probably benign	Het
Elovl7	T	G	13: 108,410,854 (GRCm39)	V143G	probably damaging	Het
Fhl4	T	C	10: 84,934,734 (GRCm39)	K16E	probably damaging	Het
Golga1	C	T	2: 38,924,161 (GRCm39)	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409 (GRCm39)	R628*	probably null	Het
Hectd4	A	G	5: 121,466,481 (GRCm39)	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,393,189 (GRCm39)	*149R	probably null	Het
Kcnab1	T	A	3: 65,226,875 (GRCm39)	Y185N	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Mib2	A	T	4: 155,739,715 (GRCm39)		probably null	Het
Mrps2	T	C	2: 28,358,348 (GRCm39)	V46A	probably benign	Het
Myo18b	T	C	5: 113,025,916 (GRCm39)	T45A	unknown	Het
Myo1e	C	T	9: 70,250,322 (GRCm39)		probably benign	Het
Or10ag59	A	G	2: 87,405,823 (GRCm39)	I132V	probably damaging	Het
Or4k39	T	A	2: 111,239,078 (GRCm39)	V106E	probably damaging	Het
Osbp2	A	T	11: 3,667,127 (GRCm39)	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,652,974 (GRCm39)	N481Y	probably damaging	Het
Phf11c	T	C	14: 59,630,586 (GRCm39)	T40A	probably benign	Het
Pih1d2	T	A	9: 50,533,177 (GRCm39)	S268R	probably benign	Het
Pkd1l2	T	C	8: 117,724,913 (GRCm39)	N2333D	probably damaging	Het
Prex1	A	G	2: 166,463,165 (GRCm39)	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,463,219 (GRCm39)	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,822,763 (GRCm39)	V933F	probably damaging	Het
Sanbr	A	G	11: 23,534,561 (GRCm39)	S105P	probably benign	Het
Sphk2	A	G	7: 45,360,480 (GRCm39)		probably null	Het
Tfcp2	T	G	15: 100,402,320 (GRCm39)	E492D	probably benign	Het
Ttn	C	T	2: 76,629,106 (GRCm39)	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,628,549 (GRCm39)	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,488,556 (GRCm39)	S158I	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
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

2014-02-04