Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:Pde3b'

328566

Institutional Source

Beutler Lab

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114415281-114539251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114534670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 974 (P974S)

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: P974S

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

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: P974S

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Pus7	A	G	5: 23,746,489	Y521H	probably benign	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	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
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
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
RF051:Pde3b	UTSW	7	114534775	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCGAGTCAGTAATGTTTTGAGG -3'
(R):5'- AGGAGTTACTCAACATATCTGTACC -3'

Sequencing Primer
(F):5'- ACCTTTAATCCCAGGGTTCAGGAG -3'
(R):5'- CCTTCGGGATAGCATTGAAAATG -3'

Posted On

2015-07-21