Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Pde3b'

93039

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

114014388-114137173 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 114126136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 790 (L790*)

Ref Sequence

ENSEMBL: ENSMUSP00000032909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000032909
AA Change: L790*

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: L790*

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dhx34	G	T	7: 15,939,398 (GRCm39)	S665Y	probably damaging	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,934,548 (GRCm39)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Notch2	C	T	3: 98,053,376 (GRCm39)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pik3r2	T	C	8: 71,224,992 (GRCm39)		probably benign	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,099,216 (GRCm39)	T244A	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,287,759 (GRCm39)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	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
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
R4969:Pde3b	UTSW	7	114,118,847 (GRCm39)	missense	possibly damaging	0.92
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

Posted On

2013-12-09