Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Pde8b'

318936

Institutional Source

Beutler Lab

Gene Symbol

Pde8b

Ensembl Gene

ENSMUSG00000021684

Gene Name

phosphodiesterase 8B

Synonyms

B230331L10Rik, C030047E14Rik

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4206 (G1)

Quality Score

140

Status

Not validated

Chromosome

Chromosomal Location

95024454-95250336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 95222545 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 90 (C90F)

Ref Sequence

ENSEMBL: ENSMUSP00000124068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022192] [ENSMUST00000067082] [ENSMUST00000159598] [ENSMUST00000159608] [ENSMUST00000160957] [ENSMUST00000162153] [ENSMUST00000162292] [ENSMUST00000162412] [ENSMUST00000172104]

AlphaFold

E9Q4S1

Predicted Effect

probably benign
Transcript: ENSMUST00000022192
AA Change: C90F

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: C90F

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: C90F

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: C90F

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: ENSMUST00000159598

SMART Domains

Protein: ENSMUSP00000124447
Gene: ENSMUSG00000021684

Domain	Start	End	E-Value	Type
Pfam:Response_reg	10	101	3.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159608
AA Change: C90F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
AA Change: C90F

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

SMART Domains

Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684

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
AA Change: C90F

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: C90F

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

SMART Domains

Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684

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: C90F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: C90F

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,473,515	K81R	probably benign	Het
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	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
R4623:Pde8b	UTSW	13	95041939	missense	possibly damaging	0.69
R4711:Pde8b	UTSW	13	95030450	missense	probably benign	0.00
R5133:Pde8b	UTSW	13	95086742	missense	probably benign	0.05
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
R9582:Pde8b	UTSW	13	95032861	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAAAAGTAAACTCCGCCTTAG -3'
(R):5'- AGAGCGGTGTGATCTACTGC -3'

Sequencing Primer
(F):5'- GTAAACTCCGCCTTAGCAACAC -3'
(R):5'- TGTGATCTACTGCCGGGACTC -3'

Posted On

2015-06-10