Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01388:Pde3a'

79125

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 #

IGL01388

Quality Score

Status

Chromosome

Chromosomal Location

141194995-141452588 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141405464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 439 (T439A)

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043259
AA Change: T439A

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

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741
AA Change: T439A

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	T	G	17: 68,160,034 (GRCm39)		probably benign	Het
Ces2b	A	C	8: 105,561,236 (GRCm39)		probably benign	Het
Col20a1	T	A	2: 180,645,264 (GRCm39)	M924K	probably benign	Het
Commd4	G	A	9: 57,063,273 (GRCm39)		probably benign	Het
Ctnna3	A	G	10: 63,339,886 (GRCm39)	E24G	possibly damaging	Het
Cyp2a22	C	T	7: 26,637,217 (GRCm39)	R189H	probably benign	Het
Gapdhrt	T	C	14: 11,281,836 (GRCm38)	D33G	probably damaging	Het
Gm20426	T	C	6: 90,155,694 (GRCm39)		probably benign	Het
Gm6802	T	G	12: 19,540,546 (GRCm39)		noncoding transcript	Het
Igkv8-21	A	G	6: 70,292,153 (GRCm39)	S30P	probably benign	Het
Lig4	A	G	8: 10,023,586 (GRCm39)	Y65H	probably damaging	Het
Mpzl1	T	C	1: 165,433,336 (GRCm39)	D105G	probably benign	Het
Myo10	A	G	15: 25,736,703 (GRCm39)	I451V	possibly damaging	Het
Nos2	G	T	11: 78,848,278 (GRCm39)	V1062L	probably damaging	Het
Oas2	A	G	5: 120,886,657 (GRCm39)	S170P	probably damaging	Het
Or1j19	G	T	2: 36,677,367 (GRCm39)	V277L	probably benign	Het
Or5w11	T	A	2: 87,458,973 (GRCm39)	H55Q	probably benign	Het
Or8b3b	A	T	9: 38,584,379 (GRCm39)	Y120*	probably null	Het
Or8g37	A	G	9: 39,731,298 (GRCm39)	D121G	probably damaging	Het
Pcdh7	T	C	5: 57,877,546 (GRCm39)	L367P	probably damaging	Het
Plekhm2	T	C	4: 141,369,312 (GRCm39)	Y124C	probably damaging	Het
Ppp4r4	T	A	12: 103,543,108 (GRCm39)	W155R	probably damaging	Het
Prl7c1	C	A	13: 27,960,198 (GRCm39)	A115S	probably damaging	Het
Psg25	T	C	7: 18,263,590 (GRCm39)	I78V	possibly damaging	Het
Ptpn9	T	A	9: 56,944,002 (GRCm39)	V292E	probably benign	Het
Ptprs	G	A	17: 56,728,261 (GRCm39)	R908C	probably damaging	Het
Rps6ka1	C	T	4: 133,599,275 (GRCm39)	V51I	probably damaging	Het
Scube1	T	C	15: 83,504,332 (GRCm39)	I492V	probably benign	Het
Trappc2	G	A	X: 165,232,775 (GRCm39)		probably benign	Het
Ubr4	T	C	4: 139,187,554 (GRCm39)	V739A	possibly damaging	Het
Unc79	T	C	12: 103,136,018 (GRCm39)		probably benign	Het
Vmn2r27	G	A	6: 124,200,791 (GRCm39)	P389S	possibly damaging	Het
Wipi2	T	A	5: 142,646,798 (GRCm39)	F212I	possibly damaging	Het

Other mutations in Pde3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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