Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Pde3b'

384272

Institutional Source

Beutler Lab

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

9830102A01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114014388-114137173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114118847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 662 (E662G)

Ref Sequence

ENSEMBL: ENSMUSP00000032909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032909
AA Change: E662G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: E662G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149455

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Esd	T	A	14: 74,982,153 (GRCm39)	S189R	possibly damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	possibly damaging	Het

Other mutations in Pde3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01509:Pde3b	APN	7	114,117,645 (GRCm39)	missense	probably benign	0.00
IGL01637:Pde3b	APN	7	114,126,136 (GRCm39)	nonsense	probably null
IGL02004:Pde3b	APN	7	114,118,852 (GRCm39)	missense	possibly damaging	0.67
IGL02113:Pde3b	APN	7	114,126,141 (GRCm39)	missense	probably damaging	1.00
IGL02201:Pde3b	APN	7	114,133,843 (GRCm39)	missense	probably damaging	1.00
IGL02266:Pde3b	APN	7	114,126,201 (GRCm39)	missense	probably damaging	1.00
IGL02601:Pde3b	APN	7	114,122,577 (GRCm39)	missense	probably damaging	1.00
IGL02641:Pde3b	APN	7	114,130,052 (GRCm39)	missense	probably damaging	1.00
IGL02671:Pde3b	APN	7	114,122,580 (GRCm39)	missense	possibly damaging	0.77
IGL02691:Pde3b	APN	7	114,107,320 (GRCm39)	splice site	probably benign
IGL02719:Pde3b	APN	7	114,105,483 (GRCm39)	missense	probably damaging	1.00
IGL03092:Pde3b	APN	7	114,122,583 (GRCm39)	missense	probably damaging	1.00
FR4342:Pde3b	UTSW	7	114,134,010 (GRCm39)	small insertion	probably benign
R0208:Pde3b	UTSW	7	114,097,216 (GRCm39)	missense	probably benign	0.00
R1191:Pde3b	UTSW	7	114,118,810 (GRCm39)	missense	probably benign	0.01
R1514:Pde3b	UTSW	7	114,130,001 (GRCm39)	missense	probably damaging	0.98
R1612:Pde3b	UTSW	7	114,118,791 (GRCm39)	nonsense	probably null
R2081:Pde3b	UTSW	7	114,122,657 (GRCm39)	missense	probably benign
R2433:Pde3b	UTSW	7	114,126,072 (GRCm39)	missense	probably benign	0.30
R2508:Pde3b	UTSW	7	114,126,092 (GRCm39)	nonsense	probably null
R3842:Pde3b	UTSW	7	114,126,102 (GRCm39)	missense	probably damaging	1.00
R4082:Pde3b	UTSW	7	114,093,823 (GRCm39)	missense	probably benign	0.04
R4115:Pde3b	UTSW	7	114,120,962 (GRCm39)	missense	probably damaging	1.00
R4197:Pde3b	UTSW	7	114,130,107 (GRCm39)	splice site	probably benign
R4236:Pde3b	UTSW	7	114,120,923 (GRCm39)	missense	possibly damaging	0.62
R4355:Pde3b	UTSW	7	114,015,522 (GRCm39)	missense	probably benign
R4411:Pde3b	UTSW	7	114,133,984 (GRCm39)	small deletion	probably benign
R4430:Pde3b	UTSW	7	114,133,905 (GRCm39)	missense	probably damaging	1.00
R4901:Pde3b	UTSW	7	114,107,425 (GRCm39)	missense	probably damaging	0.99
R5314:Pde3b	UTSW	7	114,093,772 (GRCm39)	missense	probably damaging	1.00
R5346:Pde3b	UTSW	7	114,105,425 (GRCm39)	missense	probably benign	0.00
R5706:Pde3b	UTSW	7	114,120,927 (GRCm39)	missense	probably damaging	1.00
R5844:Pde3b	UTSW	7	114,108,106 (GRCm39)	missense	probably benign	0.01
R6014:Pde3b	UTSW	7	114,015,675 (GRCm39)	missense	probably damaging	1.00
R6048:Pde3b	UTSW	7	114,107,502 (GRCm39)	missense	probably benign	0.00
R6190:Pde3b	UTSW	7	114,122,267 (GRCm39)	splice site	probably null
R7220:Pde3b	UTSW	7	114,135,297 (GRCm39)	missense	probably damaging	0.97
R7239:Pde3b	UTSW	7	114,015,384 (GRCm39)	missense	probably damaging	0.99
R7818:Pde3b	UTSW	7	114,090,675 (GRCm39)	missense	probably damaging	0.99
R7869:Pde3b	UTSW	7	114,093,922 (GRCm39)	missense	probably benign	0.03
R8443:Pde3b	UTSW	7	114,126,129 (GRCm39)	missense	probably damaging	0.99
R8483:Pde3b	UTSW	7	114,118,803 (GRCm39)	missense	probably benign	0.15
R8516:Pde3b	UTSW	7	114,126,084 (GRCm39)	missense	probably benign	0.01
R8754:Pde3b	UTSW	7	114,015,278 (GRCm39)	missense	possibly damaging	0.90
R9017:Pde3b	UTSW	7	114,015,695 (GRCm39)	nonsense	probably null
R9221:Pde3b	UTSW	7	114,014,697 (GRCm39)	start gained	probably benign
R9302:Pde3b	UTSW	7	114,122,621 (GRCm39)	missense	probably damaging	1.00
R9799:Pde3b	UTSW	7	114,122,613 (GRCm39)	missense	probably damaging	1.00
RF051:Pde3b	UTSW	7	114,134,010 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCCTGATGCTAAGATGTGTTTG -3'
(R):5'- GTTAGCTGAGCTTAAATCTCATTGG -3'

Sequencing Primer
(F):5'- CCTGATGCTAAGATGTGTTTGAAGTC -3'
(R):5'- GCTGAGCTTAAATCTCATTGGTATAC -3'

Posted On

2016-04-27