Mutagenetix > Incidental Mutation

Incidental Mutation 'R6014:Pde3b'

479920

Institutional Source

Beutler Lab

Gene Symbol

Pde3b

Ensembl Gene

ENSMUSG00000030671

Gene Name

phosphodiesterase 3B, cGMP-inhibited

Synonyms

9830102A01Rik

MMRRC Submission

044190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6014 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

114014388-114137173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114015675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 297 (L297S)

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: L297S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: L297S

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: ENSMUST00000124673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163996

Meta Mutation Damage Score

0.5354

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,244,881 (GRCm39)	M157K	probably benign	Het
A2ml1	C	T	6: 128,548,948 (GRCm39)	C278Y	probably damaging	Het
Abcc2	A	T	19: 43,815,174 (GRCm39)	Q1187L	probably benign	Het
Adcy9	A	T	16: 4,236,683 (GRCm39)	Y6N	probably damaging	Het
Adh1	T	C	3: 137,992,559 (GRCm39)	I225T	probably benign	Het
Akap11	A	T	14: 78,749,939 (GRCm39)	I816K	probably benign	Het
Ap1b1	T	A	11: 4,969,364 (GRCm39)	M240K	possibly damaging	Het
Apex1	A	T	14: 51,162,982 (GRCm39)	T17S	probably benign	Het
Arhgap21	C	T	2: 20,886,616 (GRCm39)	G26D	probably damaging	Het
Bahcc1	A	G	11: 120,180,615 (GRCm39)	Y2613C	probably benign	Het
Baz1b	C	T	5: 135,246,248 (GRCm39)	R566W	probably damaging	Het
Casp8ap2	A	T	4: 32,641,400 (GRCm39)	Y818F	probably damaging	Het
Col3a1	T	A	1: 45,360,739 (GRCm39)	C56*	probably null	Het
Coro2a	G	A	4: 46,542,261 (GRCm39)	P371S	probably damaging	Het
Cyp2a22	T	A	7: 26,638,605 (GRCm39)		probably null	Het
Dpysl3	T	A	18: 43,494,132 (GRCm39)	I183F	probably damaging	Het
Drc1	A	T	5: 30,502,993 (GRCm39)	N172I	probably damaging	Het
Dst	T	C	1: 34,303,915 (GRCm39)	Y1378H	probably damaging	Het
Dync2i2	C	T	2: 29,921,763 (GRCm39)	A533T	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l3	A	T	17: 69,590,955 (GRCm39)	T91S	probably damaging	Het
Exoc4	T	C	6: 33,452,932 (GRCm39)	V474A	probably benign	Het
Fam229b	G	A	10: 38,994,989 (GRCm39)	T56I	probably damaging	Het
Gfm2	A	G	13: 97,288,169 (GRCm39)		probably null	Het
Git2	C	T	5: 114,871,938 (GRCm39)	E152K	probably benign	Het
Golt1b	T	A	6: 142,341,943 (GRCm39)	I109N	probably damaging	Het
Grid2ip	T	A	5: 143,373,578 (GRCm39)	M783K	possibly damaging	Het
Inpp5a	A	G	7: 139,154,898 (GRCm39)	Y339C	probably damaging	Het
Isoc2a	T	C	7: 4,894,625 (GRCm39)	S103P	probably damaging	Het
Itih4	C	A	14: 30,614,586 (GRCm39)	Q483K	probably benign	Het
Kansl2	A	G	15: 98,418,197 (GRCm39)		probably null	Het
Kdm5d	G	A	Y: 921,528 (GRCm39)	A509T	probably benign	Het
Krt13	A	T	11: 100,008,437 (GRCm39)	D433E	unknown	Het
Lat2	C	T	5: 134,632,308 (GRCm39)	V142M	probably damaging	Het
Lemd1	A	C	1: 132,184,463 (GRCm39)	*102S	probably null	Het
Lrfn2	T	C	17: 49,376,934 (GRCm39)	L5P	possibly damaging	Het
Lrrc4c	T	G	2: 97,459,557 (GRCm39)		probably null	Het
Lypla1	T	A	1: 4,878,594 (GRCm39)		probably null	Het
Magi2	G	A	5: 20,816,091 (GRCm39)	G744R	probably damaging	Het
Myh14	T	A	7: 44,274,502 (GRCm39)	E948V	probably null	Het
Myo5a	C	A	9: 75,074,489 (GRCm39)	Y799*	probably null	Het
Nacc1	A	C	8: 85,401,700 (GRCm39)	M371R	possibly damaging	Het
Nlrp5	T	G	7: 23,109,372 (GRCm39)	M106R	probably benign	Het
Oas1h	C	T	5: 121,005,229 (GRCm39)	H226Y	possibly damaging	Het
Obscn	A	C	11: 58,929,690 (GRCm39)	I5175R	probably damaging	Het
Pcdh7	T	A	5: 57,878,497 (GRCm39)	I684N	probably damaging	Het
Pcdhb3	T	A	18: 37,435,706 (GRCm39)	N557K	probably damaging	Het
Pigv	G	T	4: 133,392,740 (GRCm39)	H143Q	probably benign	Het
Ptk2	T	G	15: 73,176,293 (GRCm39)	Y251S	possibly damaging	Het
Ralgds	A	G	2: 28,433,673 (GRCm39)	N219S	probably damaging	Het
Sardh	C	A	2: 27,087,540 (GRCm39)		probably null	Het
Serpina3b	A	T	12: 104,097,356 (GRCm39)	K212N	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,971 (GRCm39)	N461D	probably benign	Het
Shisa2	A	T	14: 59,867,357 (GRCm39)	Q203L	probably damaging	Het
Shmt1	C	A	11: 60,688,383 (GRCm39)	G255V	probably damaging	Het
Socs1	T	A	16: 10,602,357 (GRCm39)	I127F	possibly damaging	Het
Srcap	A	T	7: 127,137,922 (GRCm39)	T1091S	probably benign	Het
Syt14	A	G	1: 192,613,003 (GRCm39)	I599T	probably damaging	Het
Tep1	A	T	14: 51,084,457 (GRCm39)	N907K	probably benign	Het
Themis2	A	G	4: 132,513,291 (GRCm39)	Y312H	probably benign	Het
Tubgcp5	T	G	7: 55,473,357 (GRCm39)	S812A	probably benign	Het
Ush2a	A	T	1: 188,582,237 (GRCm39)	I3767F	probably damaging	Het
Usp40	T	A	1: 87,907,738 (GRCm39)	E626V	probably damaging	Het
Utrn	T	C	10: 12,566,620 (GRCm39)	R1181G	probably benign	Het
Vmn2r117	T	A	17: 23,698,535 (GRCm39)	I13F	probably damaging	Het
Wdr48	G	T	9: 119,753,775 (GRCm39)	V646F	probably damaging	Het
Wdr64	T	C	1: 175,633,556 (GRCm39)	F936L	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
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
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'- GGGCTTGGACCACTTCTTTC -3'
(R):5'- ATGATTTCATTCTCACTCACTGGG -3'

Sequencing Primer
(F):5'- ACTTCTTTCACGTCCGGGGAG -3'
(R):5'- TTGACGAGCCCCTCATACTGG -3'

Posted On

2017-06-26