Mutagenetix > Incidental Mutation

Incidental Mutation 'R1065:Pde3a'

85963

Institutional Source

Beutler Lab

Gene Symbol

Pde3a

Ensembl Gene

ENSMUSG00000041741

Gene Name

phosphodiesterase 3A, cGMP inhibited

Synonyms

A930022O17Rik

MMRRC Submission

039151-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R1065 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141194995-141452588 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 141422458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038749 (fasta)

Gene Model

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

AlphaFold

Q9Z0X4

Predicted Effect

probably benign
Transcript: ENSMUST00000043259

SMART Domains

Protein: ENSMUSP00000038749
Gene: ENSMUSG00000041741

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

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (36/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd300ld2	T	C	11: 114,904,586 (GRCm39)	T94A	probably damaging	Het
Cdc42bpg	G	A	19: 6,372,856 (GRCm39)	S1515N	probably damaging	Het
Ckb	T	C	12: 111,637,681 (GRCm39)	E150G	probably benign	Het
Clec2m	A	G	6: 129,300,013 (GRCm39)	I155T	possibly damaging	Het
Cobl	T	A	11: 12,204,327 (GRCm39)	M785L	possibly damaging	Het
Col6a5	T	C	9: 105,758,982 (GRCm39)	N2075D	probably damaging	Het
Commd7	G	C	2: 153,461,447 (GRCm39)		probably benign	Het
Corin	G	A	5: 72,458,993 (GRCm39)	R927*	probably null	Het
Dync2i1	C	T	12: 116,219,696 (GRCm39)	R82H	probably damaging	Het
Ift122	A	T	6: 115,852,286 (GRCm39)		probably null	Het
Il1b	G	A	2: 129,209,927 (GRCm39)	T83I	probably benign	Het
Ints4	T	C	7: 97,157,099 (GRCm39)		probably null	Het
Msh6	T	G	17: 88,295,891 (GRCm39)		probably benign	Het
Mtmr3	T	C	11: 4,442,859 (GRCm39)	K392E	probably damaging	Het
Or5t9	A	G	2: 86,659,888 (GRCm39)	H264R	probably damaging	Het
Pde6h	A	C	6: 136,936,368 (GRCm39)	K37T	probably damaging	Het
Plat	C	A	8: 23,266,879 (GRCm39)	D290E	probably damaging	Het
Polk	A	C	13: 96,644,760 (GRCm39)	L122R	probably damaging	Het
Ppp1r3g	T	A	13: 36,153,418 (GRCm39)	D279E	probably benign	Het
Ptpru	T	C	4: 131,535,651 (GRCm39)	E370G	possibly damaging	Het
Ralgapa2	T	C	2: 146,292,478 (GRCm39)	Y187C	probably benign	Het
Rps6ka2	C	T	17: 7,549,157 (GRCm39)		probably benign	Het
Slit3	T	C	11: 35,012,462 (GRCm39)	S41P	possibly damaging	Het
Smarca5	A	T	8: 81,431,343 (GRCm39)	L958Q	probably damaging	Het
Snx9	T	C	17: 5,952,636 (GRCm39)		probably benign	Het
Stkld1	A	T	2: 26,830,050 (GRCm39)	N72I	probably damaging	Het
Strc	C	A	2: 121,197,132 (GRCm39)	D1532Y	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Svil	T	G	18: 5,063,777 (GRCm39)		probably benign	Het
Traf3ip1	T	A	1: 91,428,506 (GRCm39)	D122E	unknown	Het
Vmn2r7	A	T	3: 64,614,559 (GRCm39)	D509E	possibly damaging	Het
Vps52	C	A	17: 34,180,213 (GRCm39)	Q306K	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp418	C	A	7: 7,184,561 (GRCm39)	Q175K	probably benign	Het
Zxdc	T	C	6: 90,355,885 (GRCm39)	S465P	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTAGTCCTTCCTCCCTGAGGTATACAT -3'
(R):5'- TGATCCAGGTTACAGTATCCCAAGGAAA -3'

Sequencing Primer
(F):5'- cctccctgaggtatacatcttaatg -3'
(R):5'- aacattacccaccccacac -3'

Posted On

2013-11-18