Mutagenetix > Incidental Mutations

Incidental Mutation 'R5706:Pde3b'

451975

Institutional Source

Beutler Lab

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

MMRRC Submission

043331-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114415281-114539251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114521692 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 684 (G684D)

Ref Sequence

ENSEMBL: ENSMUSP00000032909 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000032909
AA Change: G684D

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

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: G684D

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: 98.6%
10x: 97.1%
20x: 95.1%

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
Abca4	T	A	3: 122,054,261	M77K	probably benign	Het
Amy1	A	G	3: 113,556,120	V467A	probably damaging	Het
Atf4	T	C	15: 80,256,330	V11A	possibly damaging	Het
B4galt1	T	C	4: 40,807,268	N373D	probably damaging	Het
Bpifa3	A	G	2: 154,135,578	K112R	probably damaging	Het
Chd2	T	A	7: 73,491,357	Y596F	possibly damaging	Het
Clspn	T	C	4: 126,578,418	S962P	probably damaging	Het
Cyp2c68	T	C	19: 39,734,318	D262G	possibly damaging	Het
Dcaf11	T	C	14: 55,565,695	I282T	probably damaging	Het
Dmxl1	T	C	18: 49,957,395		probably null	Het
Dnah11	T	G	12: 118,023,935	K2411Q	probably damaging	Het
Elf3	A	G	1: 135,256,482	V196A	probably benign	Het
Fhad1	T	G	4: 141,954,116	T538P	probably damaging	Het
Fkbp10	A	G	11: 100,421,023	D174G	probably damaging	Het
Gas6	A	G	8: 13,477,098	S217P	probably damaging	Het
Gm4778	T	A	3: 94,266,652	H322Q	possibly damaging	Het
Heatr5b	C	T	17: 78,766,875		probably null	Het
Iqgap3	A	G	3: 88,115,908	E502G	probably benign	Het
Klc1	T	C	12: 111,795,627	V577A	possibly damaging	Het
Lck	T	C	4: 129,551,638		probably null	Het
Mc3r	C	A	2: 172,249,690	Y277*	probably null	Het
Mlxipl	T	C	5: 135,133,604	V640A	probably benign	Het
Mrc2	A	T	11: 105,332,343	N471Y	probably damaging	Het
Ncan	T	A	8: 70,102,017	H1050L	probably damaging	Het
Nrl	C	A	14: 55,522,432	V13F	probably damaging	Het
Obscn	T	A	11: 59,076,256	Y546F	probably damaging	Het
Olfr214	A	G	6: 116,557,113	I229M	probably damaging	Het
Olfr654	T	G	7: 104,587,890	S46A	probably benign	Het
Olfr799	A	G	10: 129,648,091		probably null	Het
Prkaa1	C	T	15: 5,174,342	T244I	probably benign	Het
Scfd2	A	T	5: 74,206,398		probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Smg1	A	T	7: 118,145,590	V3113D	possibly damaging	Het
Sorbs1	T	C	19: 40,376,881	T153A	probably benign	Het
Spag16	A	G	1: 69,870,289	T182A	probably benign	Het
Svs2	T	C	2: 164,237,669	K106R	possibly damaging	Het
Tenm1	A	G	X: 43,074,695	V107A	possibly damaging	Het
Topaz1	A	T	9: 122,799,485	I1546F	possibly damaging	Het
Tubgcp2	C	A	7: 140,032,225	E78*	probably null	Het
Vars	A	G	17: 35,005,481		probably null	Het
Vmn2r109	A	T	17: 20,554,305	W263R	probably benign	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
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	intron	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
RF051:Pde3b	UTSW	7	114534775	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATAGAGTTCTTGCCTGACATTTGGG -3'
(R):5'- GTCAGTTATTAACACCAGGTAACAG -3'

Sequencing Primer
(F):5'- CCTGACATTTGGGAGGCCTG -3'
(R):5'- CCAGGTATACCATTACTCACAT -3'

Posted On

2017-01-03