Mutagenetix > Incidental Mutations

Incidental Mutation 'R5133:Pde8b'

395963

Institutional Source

Beutler Lab

Gene Symbol

Pde8b

Ensembl Gene

ENSMUSG00000021684

Gene Name

phosphodiesterase 8B

Synonyms

B230331L10Rik, C030047E14Rik

MMRRC Submission

042721-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95024454-95250336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95086742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 335 (I335V)

Ref Sequence

ENSEMBL: ENSMUSP00000128987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000067082] [ENSMUST00000159608] [ENSMUST00000160957] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000162412] [ENSMUST00000172104]

AlphaFold

E9Q4S1

Predicted Effect

probably benign
Transcript: ENSMUST00000022192

SMART Domains

Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	2.2e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.9e-15	PFAM
Blast:HDc	420	481	1e-20	BLAST
HDc	565	748	3.01e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000067082
AA Change: I315V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: I315V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	47	1.4e-32	PFAM
low complexity region	75	98	N/A	INTRINSIC
Blast:REC	112	235	6e-45	BLAST
PAS	249	316	3.59e-3	SMART
Blast:HDc	447	508	1e-20	BLAST
HDc	592	775	3.01e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159608

SMART Domains

Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	1.7e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.1e-15	PFAM
Blast:HDc	420	481	1e-20	BLAST
HDc	565	666	9.37e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160957

SMART Domains

Protein: ENSMUSP00000125115
Gene: ENSMUSG00000021684

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
Pfam:Response_reg	30	148	5.7e-16	PFAM
Blast:PAS	165	188	1e-7	BLAST
Blast:HDc	266	327	1e-21	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162153
AA Change: I230V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: I230V

Domain	Start	End	E-Value	Type
Pfam:Response_reg	29	147	2.6e-15	PFAM
PAS	164	231	3.59e-3	SMART
Blast:HDc	362	423	1e-20	BLAST
HDc	507	690	3.01e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162292

SMART Domains

Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	2.1e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.6e-15	PFAM
Blast:HDc	370	431	1e-20	BLAST
HDc	515	698	3.01e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162328

Predicted Effect

probably benign
Transcript: ENSMUST00000162412
AA Change: I230V

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: I230V

Domain	Start	End	E-Value	Type
Pfam:Response_reg	29	147	2.3e-15	PFAM
PAS	164	231	3.59e-3	SMART
Blast:HDc	312	373	1e-20	BLAST
HDc	457	640	3.01e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172104
AA Change: I335V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: I335V

Domain	Start	End	E-Value	Type
Pfam:PDE8	1	52	2.2e-39	PFAM
low complexity region	75	98	N/A	INTRINSIC
Pfam:Response_reg	134	252	2.8e-15	PFAM
PAS	269	336	3.59e-3	SMART
HDc	557	740	3.01e-3	SMART

Meta Mutation Damage Score

0.2504

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased uring corticosterone, decreased serum adrenocorticotropin and decreased sensitivity to a PDE8-selective inhibitor. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	C	T	18: 57,563,969	T65I	possibly damaging	Het
A3galt2	A	T	4: 128,762,141	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676	D389V	probably benign	Het
Apob	A	T	12: 8,008,898	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178	F86L	possibly damaging	Het
Cd3d	A	T	9: 44,984,998	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454	N184S	probably damaging	Het
Ezh2	C	T	6: 47,540,750	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fam234b	T	C	6: 135,209,195	V67A	probably benign	Het
Fbn2	T	C	18: 58,039,340	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015	Y271H	probably damaging	Het
Gm960	T	A	19: 4,658,421	S194C	probably damaging	Het
Gnmt	A	T	17: 46,725,934	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,786,747	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,481,553	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059	T426A	possibly damaging	Het
Jup	T	C	11: 100,383,115	D200G	probably benign	Het
Kcnq1	T	C	7: 143,194,346		probably null	Het
Kctd9	C	T	14: 67,729,356	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522	R407Q	unknown	Het
Kras	T	C	6: 145,232,153	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066	D457G	probably benign	Het
Med13	T	C	11: 86,319,849	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192	T496A	probably benign	Het
Mum1	T	C	10: 80,232,868	L282P	probably benign	Het
Nckap5	T	C	1: 126,033,960	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717	P224T	possibly damaging	Het
Olfr1221	A	T	2: 89,111,796		probably null	Het
Olfr1434	T	C	19: 12,283,306	L86P	possibly damaging	Het
Olfr1480	T	A	19: 13,530,078	M135K	probably damaging	Het
Olfr60	A	T	7: 140,345,323	I222N	probably damaging	Het
Oprl1	T	A	2: 181,718,610	I153N	probably damaging	Het
Otud4	G	A	8: 79,655,689	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890	F108L	probably benign	Het
Pdzd7	T	A	19: 45,028,429	I886L	possibly damaging	Het
Prune2	C	T	19: 17,003,631	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Rab27b	T	C	18: 69,989,588	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473		probably null	Het
Snrpf	T	C	10: 93,588,123	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820	K39N	probably null	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,075,506	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,294,768	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006	I23T	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864	W60R	probably benign	Het

Other mutations in Pde8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Pde8b	APN	13	95034367	missense	probably damaging	1.00
IGL01517:Pde8b	APN	13	95100887	critical splice donor site	probably null
IGL01736:Pde8b	APN	13	95030402	missense	probably damaging	1.00
IGL01756:Pde8b	APN	13	95046387	missense	probably damaging	1.00
IGL01867:Pde8b	APN	13	95100938	missense	probably damaging	0.99
IGL01939:Pde8b	APN	13	95095724	missense	probably damaging	0.98
IGL02026:Pde8b	APN	13	95034361	missense	probably damaging	1.00
IGL02685:Pde8b	APN	13	95026120	makesense	probably null
IGL02830:Pde8b	APN	13	95052901	missense	probably benign	0.02
IGL02966:Pde8b	APN	13	95095648	missense	probably damaging	0.96
IGL03003:Pde8b	APN	13	95041957	missense	probably damaging	1.00
IGL03064:Pde8b	APN	13	95046398	missense	probably damaging	1.00
IGL03349:Pde8b	APN	13	95043043	splice site	probably benign
R0356:Pde8b	UTSW	13	95046454	missense	probably damaging	0.96
R0464:Pde8b	UTSW	13	95104698	missense	probably damaging	1.00
R0711:Pde8b	UTSW	13	95107817	missense	possibly damaging	0.87
R1436:Pde8b	UTSW	13	95026170	missense	probably benign	0.00
R1467:Pde8b	UTSW	13	95034172	missense	probably damaging	0.99
R1467:Pde8b	UTSW	13	95034172	missense	probably damaging	0.99
R1494:Pde8b	UTSW	13	95047796	missense	probably damaging	1.00
R1546:Pde8b	UTSW	13	95046443	missense	probably damaging	1.00
R1699:Pde8b	UTSW	13	95032866	missense	probably damaging	1.00
R1795:Pde8b	UTSW	13	95042019	missense	probably benign	0.10
R1879:Pde8b	UTSW	13	95085215	missense	possibly damaging	0.95
R2184:Pde8b	UTSW	13	95026215	missense	probably damaging	1.00
R2223:Pde8b	UTSW	13	95043447	missense	probably damaging	1.00
R2892:Pde8b	UTSW	13	95034259	missense	probably damaging	1.00
R3034:Pde8b	UTSW	13	95222767	missense	probably damaging	1.00
R4204:Pde8b	UTSW	13	95222545	missense	probably benign	0.22
R4206:Pde8b	UTSW	13	95222545	missense	probably benign	0.22
R4623:Pde8b	UTSW	13	95041939	missense	possibly damaging	0.69
R4711:Pde8b	UTSW	13	95030450	missense	probably benign	0.00
R5134:Pde8b	UTSW	13	95086742	missense	probably benign	0.05
R5314:Pde8b	UTSW	13	95086853	missense	possibly damaging	0.89
R5342:Pde8b	UTSW	13	95041990	missense	probably damaging	0.99
R5376:Pde8b	UTSW	13	95026146	missense	probably benign	0.00
R5806:Pde8b	UTSW	13	95042040	missense	probably damaging	1.00
R5830:Pde8b	UTSW	13	95041890	missense	probably benign	0.01
R6021:Pde8b	UTSW	13	95026162	missense	possibly damaging	0.47
R6035:Pde8b	UTSW	13	95027597	intron	probably benign
R6035:Pde8b	UTSW	13	95027597	intron	probably benign
R6129:Pde8b	UTSW	13	95041959	missense	probably damaging	0.98
R6181:Pde8b	UTSW	13	95086808	missense	probably benign	0.36
R6313:Pde8b	UTSW	13	95042000	nonsense	probably null
R6849:Pde8b	UTSW	13	95047799	missense	possibly damaging	0.89
R6914:Pde8b	UTSW	13	95086844	missense	probably benign	0.06
R6999:Pde8b	UTSW	13	95086834	missense	possibly damaging	0.91
R7149:Pde8b	UTSW	13	95086841	missense	probably benign	0.03
R7275:Pde8b	UTSW	13	95042934	missense	probably damaging	1.00
R7483:Pde8b	UTSW	13	95027743	missense	probably damaging	1.00
R7553:Pde8b	UTSW	13	95086750	missense	probably benign	0.21
R7790:Pde8b	UTSW	13	95034171	missense	probably benign	0.00
R7802:Pde8b	UTSW	13	95100938	missense	probably damaging	0.99
R7852:Pde8b	UTSW	13	95107697	missense	probably damaging	1.00
R7872:Pde8b	UTSW	13	95086839	missense	possibly damaging	0.51
R7897:Pde8b	UTSW	13	95107694	missense	probably benign	0.01
R8144:Pde8b	UTSW	13	95222770	missense	probably damaging	0.99
R8792:Pde8b	UTSW	13	95043026	missense	probably benign
R8850:Pde8b	UTSW	13	95090285	missense	probably benign	0.01
R8905:Pde8b	UTSW	13	95046485	missense	probably damaging	1.00
R9252:Pde8b	UTSW	13	95032916	missense	probably damaging	1.00
R9256:Pde8b	UTSW	13	95027696	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCTTCCACAAAGCAATTAG -3'
(R):5'- GTATACCTGTATCCCCACAGC -3'

Sequencing Primer
(F):5'- GCAATTAGCTCCCGTGGCATC -3'
(R):5'- CCACAGCCTCCCAGTAGG -3'

Posted On

2016-06-21