Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:Pde3b'

418401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

114415281-114539251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114523348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 717 (H717L)

Ref Sequence

ENSEMBL: ENSMUSP00000032909 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032909
AA Change: H717L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: H717L

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
5430419D17Rik	G	T	7: 131,201,798		probably null	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably 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
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
R8516:Pde3b	UTSW	7	114526849	missense	probably benign	0.01
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
R9799:Pde3b	UTSW	7	114523378	missense	probably damaging	1.00
RF051:Pde3b	UTSW	7	114534775	small insertion	probably benign

Posted On

2016-08-02