Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Pde8b'

184185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pde8b

Ensembl Gene

ENSMUSG00000021684

Gene Name

phosphodiesterase 8B

Synonyms

B230331L10Rik, C030047E14Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

95024454-95250336 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95034361 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 549 (V549A)

Ref Sequence

ENSEMBL: ENSMUSP00000124068 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022192
AA Change: V599A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: V599A

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

possibly damaging
Transcript: ENSMUST00000067082
AA Change: V626A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: V626A

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 damaging
Transcript: ENSMUST00000159608
AA Change: V599A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
AA Change: V599A

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

possibly damaging
Transcript: ENSMUST00000162153
AA Change: V541A

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: V541A

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 damaging
Transcript: ENSMUST00000162292
AA Change: V549A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: V549A

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

possibly damaging
Transcript: ENSMUST00000162412
AA Change: V491A

PolyPhen 2 Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: V491A

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: ENSMUST00000162670

SMART Domains

Protein: ENSMUSP00000125237
Gene: ENSMUSG00000021684

Domain	Start	End	E-Value	Type
Pfam:PDEase_I	1	182	6.6e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162882

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172104
AA Change: V591A

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: V591A

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

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	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
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
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

Posted On

2014-05-07