Mutagenetix > Incidental Mutations

Incidental Mutation 'R8516:Pde3b'

656152

Institutional Source

Beutler Lab

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8516 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114415281-114539251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114526849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 773 (M773L)

Ref Sequence

ENSEMBL: ENSMUSP00000032909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032909]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032909
AA Change: M773L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: M773L

Domain	Start	End	E-Value	Type
low complexity region	10	27	N/A	INTRINSIC
transmembrane domain	73	90	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	171	190	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC
low complexity region	490	504	N/A	INTRINSIC
HDc	710	927	7.52e-4	SMART
low complexity region	991	1023	N/A	INTRINSIC
low complexity region	1048	1067	N/A	INTRINSIC
low complexity region	1081	1096	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutants show abnormalities in glycerol and fatty acid levels, along with changes in adipocyte morphology and decreased body fat percentage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	T	9: 4,309,373	S22T	probably benign	Het
Actr8	G	T	14: 29,990,899	A500S	probably benign	Het
Adamtsl1	A	G	4: 86,342,543	Y1005C	probably damaging	Het
Ank3	T	A	10: 69,927,729	Y884*	probably null	Het
Arhgap28	T	C	17: 67,873,073	R306G	probably benign	Het
Atp8a2	A	C	14: 59,691,472	I1044M	probably benign	Het
Bahd1	A	G	2: 118,916,971	Y357C	probably benign	Het
Btd	A	T	14: 31,666,867	T182S	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cisd2	T	C	3: 135,411,013	T106A	probably damaging	Het
Cldn15	G	T	5: 136,974,696	C184F	probably damaging	Het
Clk4	G	A	11: 51,275,261	R198Q	probably damaging	Het
Coprs	G	T	8: 13,885,065	F163L	probably damaging	Het
Csmd3	G	A	15: 47,629,365	R2216*	probably null	Het
Defb7	A	T	8: 19,497,607	I43F	possibly damaging	Het
Dpp8	C	A	9: 65,078,009	T783K	probably damaging	Het
Eif2s1	G	A	12: 78,881,162	G204D	probably damaging	Het
Elavl4	T	C	4: 110,251,379	N56S	probably damaging	Het
Emilin1	G	A	5: 30,917,171	R252H	probably damaging	Het
Exd1	A	T	2: 119,520,073	L569Q	probably damaging	Het
Gm498	T	A	7: 143,897,274	I342N	probably damaging	Het
Gpn2	C	T	4: 133,584,831	R125C	probably damaging	Het
Gria2	T	C	3: 80,706,987	E582G	probably benign	Het
Hadha	A	T	5: 30,126,584	V458E	probably damaging	Het
Hap1	T	C	11: 100,356,067	K4R	possibly damaging	Het
Hectd4	A	T	5: 121,349,010	H3356L	possibly damaging	Het
Herc2	G	A	7: 56,206,570	V3919I	probably benign	Het
Lgr6	G	T	1: 135,075,283	N76K	probably damaging	Het
Olfr692	A	G	7: 105,368,769	I148V	probably benign	Het
P4ha3	A	G	7: 100,314,662	M462V	probably damaging	Het
Peak1	T	C	9: 56,260,000	S215G	probably damaging	Het
Pgm5	T	A	19: 24,815,710	M331L	probably benign	Het
Piwil2	A	G	14: 70,420,739	V213A	probably benign	Het
Plch2	T	C	4: 154,986,307	H1205R	probably benign	Het
Pop4	A	T	7: 38,267,402	M85K	probably benign	Het
Ppp3ca	T	A	3: 136,877,768	I212N	probably damaging	Het
Prom1	T	C	5: 44,007,099	K714R	probably benign	Het
Psip1	C	T	4: 83,466,715	G207S	probably benign	Het
Rgs22	A	G	15: 36,010,335	*1259Q	probably null	Het
Scn1a	C	T	2: 66,326,134	G477D	possibly damaging	Het
Sf3b1	T	C	1: 55,012,103	E222G	probably null	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Spem2	T	C	11: 69,816,895	R415G	possibly damaging	Het
Tmem167	T	A	13: 90,098,396	V13E	probably damaging	Het
Trim2	C	T	3: 84,208,320	A102T	probably damaging	Het
Trim30b	A	G	7: 104,357,404	S82P	probably benign	Het
Uba6	A	C	5: 86,127,748	S760R	possibly damaging	Het
Upf2	T	C	2: 6,018,971	F711L	unknown	Het
Utrn	T	A	10: 12,486,510	D2693V	probably damaging	Het
Vmn1r30	T	G	6: 58,435,124	Y241S	probably damaging	Het
Vmn2r110	A	G	17: 20,574,613	L598P	probably damaging	Het
Wfdc18	T	A	11: 83,709,158	F14Y	probably benign	Het
Wnt10b	A	T	15: 98,772,880	C256S	probably damaging	Het
Xrn1	T	A	9: 96,048,391	Y1554*	probably null	Het
Zc3h12a	T	A	4: 125,119,839	S411C	probably damaging	Het
Zfp112	G	A	7: 24,123,964	G63E	probably benign	Het
Zfp786	A	T	6: 47,820,543	L487Q	probably damaging	Het
Zfp953	T	A	13: 67,345,355	Y75F	possibly damaging	Het

Other mutations in Pde3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Pde3b	APN	7	114518410	missense	probably benign	0.00
IGL01637:Pde3b	APN	7	114526901	nonsense	probably null
IGL02004:Pde3b	APN	7	114519617	missense	possibly damaging	0.67
IGL02113:Pde3b	APN	7	114526906	missense	probably damaging	1.00
IGL02201:Pde3b	APN	7	114534608	missense	probably damaging	1.00
IGL02266:Pde3b	APN	7	114526966	missense	probably damaging	1.00
IGL02601:Pde3b	APN	7	114523342	missense	probably damaging	1.00
IGL02641:Pde3b	APN	7	114530817	missense	probably damaging	1.00
IGL02671:Pde3b	APN	7	114523345	missense	possibly damaging	0.77
IGL02691:Pde3b	APN	7	114508085	splice site	probably benign
IGL02719:Pde3b	APN	7	114506248	missense	probably damaging	1.00
IGL03092:Pde3b	APN	7	114523348	missense	probably damaging	1.00
FR4342:Pde3b	UTSW	7	114534775	small insertion	probably benign
R0208:Pde3b	UTSW	7	114497981	missense	probably benign	0.00
R1191:Pde3b	UTSW	7	114519575	missense	probably benign	0.01
R1514:Pde3b	UTSW	7	114530766	missense	probably damaging	0.98
R1612:Pde3b	UTSW	7	114519556	nonsense	probably null
R2081:Pde3b	UTSW	7	114523422	missense	probably benign
R2433:Pde3b	UTSW	7	114526837	missense	probably benign	0.30
R2508:Pde3b	UTSW	7	114526857	nonsense	probably null
R3842:Pde3b	UTSW	7	114526867	missense	probably damaging	1.00
R4082:Pde3b	UTSW	7	114494588	missense	probably benign	0.04
R4115:Pde3b	UTSW	7	114521727	missense	probably damaging	1.00
R4197:Pde3b	UTSW	7	114530872	splice site	probably benign
R4236:Pde3b	UTSW	7	114521688	missense	possibly damaging	0.62
R4355:Pde3b	UTSW	7	114416287	missense	probably benign
R4411:Pde3b	UTSW	7	114534749	small deletion	probably benign
R4430:Pde3b	UTSW	7	114534670	missense	probably damaging	1.00
R4901:Pde3b	UTSW	7	114508190	missense	probably damaging	0.99
R4969:Pde3b	UTSW	7	114519612	missense	possibly damaging	0.92
R5314:Pde3b	UTSW	7	114494537	missense	probably damaging	1.00
R5346:Pde3b	UTSW	7	114506190	missense	probably benign	0.00
R5706:Pde3b	UTSW	7	114521692	missense	probably damaging	1.00
R5844:Pde3b	UTSW	7	114508871	missense	probably benign	0.01
R6014:Pde3b	UTSW	7	114416440	missense	probably damaging	1.00
R6048:Pde3b	UTSW	7	114508267	missense	probably benign	0.00
R6190:Pde3b	UTSW	7	114523032	splice site	probably null
R7220:Pde3b	UTSW	7	114536062	missense	probably damaging	0.97
R7239:Pde3b	UTSW	7	114416149	missense	probably damaging	0.99
R7818:Pde3b	UTSW	7	114491440	missense	probably damaging	0.99
R7869:Pde3b	UTSW	7	114494687	missense	probably benign	0.03
R8443:Pde3b	UTSW	7	114526894	missense	probably damaging	0.99
R8483:Pde3b	UTSW	7	114519568	missense	probably benign	0.15
R8754:Pde3b	UTSW	7	114416043	missense	possibly damaging	0.90
R9017:Pde3b	UTSW	7	114416460	nonsense	probably null
R9221:Pde3b	UTSW	7	114415462	start gained	probably benign
R9302:Pde3b	UTSW	7	114523386	missense	probably damaging	1.00
RF051:Pde3b	UTSW	7	114534775	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCAGAATTCTCTAATGTCCTGC -3'
(R):5'- AGCATTCATCATCATGTGCTTTCAC -3'

Sequencing Primer
(F):5'- TGTCCTGCAAGATAAACAATGGG -3'
(R):5'- CAGATTATAGAGTGATATGCAATCGG -3'

Posted On

2020-10-20