Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Pde8b'

202167

Institutional Source

Beutler Lab

Gene Symbol

Pde8b

Ensembl Gene

ENSMUSG00000021684

Gene Name

phosphodiesterase 8B

Synonyms

B230331L10Rik, C030047E14Rik

MMRRC Submission

039825-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95160962-95386844 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95178527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 566 (V566A)

Ref Sequence

ENSEMBL: ENSMUSP00000070465 (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
AA Change: V539A

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022192
Gene: ENSMUSG00000021684
AA Change: V539A

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: V566A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070465
Gene: ENSMUSG00000021684
AA Change: V566A

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
AA Change: V539A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125191
Gene: ENSMUSG00000021684
AA Change: V539A

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

noncoding transcript
Transcript: ENSMUST00000160412

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: V481A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124704
Gene: ENSMUSG00000021684
AA Change: V481A

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: V489A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124068
Gene: ENSMUSG00000021684
AA Change: V489A

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

probably benign
Transcript: ENSMUST00000162412
AA Change: V431A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124409
Gene: ENSMUSG00000021684
AA Change: V431A

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: V531A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000128987
Gene: ENSMUSG00000021684
AA Change: V531A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162882

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,941,792 (GRCm39)	I1159T	probably benign	Het
Abcc1	T	C	16: 14,283,001 (GRCm39)	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,981,007 (GRCm39)	I194T	probably damaging	Het
Abtb2	A	G	2: 103,397,369 (GRCm39)	T100A	probably benign	Het
Adam4	C	T	12: 81,468,068 (GRCm39)	M184I	probably benign	Het
Afap1l2	T	C	19: 56,916,841 (GRCm39)	D155G	probably damaging	Het
Ahnak	T	C	19: 8,979,802 (GRCm39)	V362A	possibly damaging	Het
Ak7	C	T	12: 105,692,482 (GRCm39)	R179*	probably null	Het
Akap8	C	A	17: 32,534,451 (GRCm39)	G332C	probably damaging	Het
Akr1e1	T	A	13: 4,645,071 (GRCm39)	Q204L	probably damaging	Het
Ankrd12	T	C	17: 66,293,222 (GRCm39)	E737G	possibly damaging	Het
Atrn	A	G	2: 130,814,208 (GRCm39)	D718G	probably benign	Het
Bco2	A	G	9: 50,452,469 (GRCm39)	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,561,648 (GRCm39)	S28T	unknown	Het
Cdc14a	T	A	3: 116,092,122 (GRCm39)	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,799,654 (GRCm39)	L387P	probably damaging	Het
Celsr1	A	T	15: 85,914,524 (GRCm39)	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,183,884 (GRCm39)	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,721,316 (GRCm39)	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,736,943 (GRCm39)	I92F	probably benign	Het
Dhx30	A	T	9: 109,937,051 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,561,965 (GRCm39)	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,843,207 (GRCm39)	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,525,559 (GRCm39)	E741K	possibly damaging	Het
Dock3	T	G	9: 106,902,534 (GRCm39)	H292P	probably damaging	Het
Ercc6	T	A	14: 32,238,985 (GRCm39)	N24K	probably benign	Het
Esco2	T	C	14: 66,064,726 (GRCm39)	Q338R	probably benign	Het
Etl4	T	C	2: 20,812,837 (GRCm39)		probably null	Het
Exoc7	A	T	11: 116,183,347 (GRCm39)	I498N	probably damaging	Het
Fap	G	A	2: 62,378,933 (GRCm39)	S123L	probably damaging	Het
Foxn1	T	C	11: 78,262,051 (GRCm39)	E106G	probably benign	Het
Fscb	T	A	12: 64,521,175 (GRCm39)	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,939,596 (GRCm39)	T174A	possibly damaging	Het
Gan	C	T	8: 117,923,199 (GRCm39)	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,336,284 (GRCm39)	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,792,746 (GRCm39)	Y47N	unknown	Het
Gm17333	G	T	16: 77,649,711 (GRCm39)		noncoding transcript	Het
Gm1758	T	A	16: 14,320,142 (GRCm39)		noncoding transcript	Het
Golga3	A	G	5: 110,355,493 (GRCm39)	K989R	possibly damaging	Het
Gucy2g	C	A	19: 55,187,973 (GRCm39)	V1041F	probably damaging	Het
Guk1	A	T	11: 59,077,639 (GRCm39)	F25I	probably benign	Het
H2al1o	C	T	X: 9,438,329 (GRCm39)	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958 (GRCm39)	C426F	probably damaging	Het
Hps3	A	G	3: 20,066,859 (GRCm39)		probably null	Het
Il2rb	A	T	15: 78,368,187 (GRCm39)	D287E	probably damaging	Het
Ino80	A	T	2: 119,237,340 (GRCm39)	V1123D	probably damaging	Het
Kdm2b	A	G	5: 123,122,523 (GRCm39)		probably null	Het
Kif21a	A	T	15: 90,856,930 (GRCm39)		probably null	Het
Klhl33	A	T	14: 51,129,583 (GRCm39)	N347K	probably damaging	Het
Krt1c	A	G	15: 101,724,861 (GRCm39)	F250L	possibly damaging	Het
Krt82	T	A	15: 101,451,819 (GRCm39)	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,294,631 (GRCm39)	I444V	probably benign	Het
Lmod1	G	A	1: 135,252,862 (GRCm39)	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mex3d	T	C	10: 80,217,376 (GRCm39)	T149A	probably benign	Het
Mideas	A	G	12: 84,205,748 (GRCm39)		probably null	Het
Mlxipl	A	C	5: 135,136,024 (GRCm39)	D83A	probably damaging	Het
Mroh8	T	A	2: 157,111,471 (GRCm39)	E161V	probably benign	Het
Mroh9	G	A	1: 162,884,347 (GRCm39)	T397I	probably damaging	Het
Mtss1	T	C	15: 58,930,249 (GRCm39)	D32G	possibly damaging	Het
Mus81	T	C	19: 5,533,504 (GRCm39)	D495G	probably benign	Het
Neurod1	A	C	2: 79,284,673 (GRCm39)	S237A	probably benign	Het
Npas1	G	A	7: 16,208,725 (GRCm39)	R51C	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,023,274 (GRCm39)	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,460,087 (GRCm39)	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,582,588 (GRCm39)	M565L	probably benign	Het
Pde6a	A	G	18: 61,390,283 (GRCm39)	E502G	probably damaging	Het
Phf11b	G	T	14: 59,565,554 (GRCm39)	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,291,716 (GRCm39)	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,933,381 (GRCm39)		probably benign	Het
Plxna2	G	A	1: 194,488,611 (GRCm39)	G1629D	probably damaging	Het
Plxnb1	T	C	9: 108,929,813 (GRCm39)	V223A	probably benign	Het
Prkca	A	T	11: 107,903,518 (GRCm39)	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,992,554 (GRCm39)	N226I	probably damaging	Het
Pus7	A	C	5: 23,946,914 (GRCm39)	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264 (GRCm39)	Q666*	probably null	Het
Sema3d	A	G	5: 12,634,854 (GRCm39)	D640G	probably benign	Het
Slc6a15	A	G	10: 103,236,121 (GRCm39)	I279V	probably benign	Het
Slk	T	C	19: 47,608,973 (GRCm39)	V642A	possibly damaging	Het
Spata31e2	C	A	1: 26,722,070 (GRCm39)	G1037*	probably null	Het
Spta1	T	A	1: 174,073,296 (GRCm39)	M2305K	probably damaging	Het
Srrt	T	C	5: 137,301,274 (GRCm39)		probably benign	Het
Stfa2l1	A	T	16: 35,977,228 (GRCm39)	I8L	probably benign	Het
Tap1	T	C	17: 34,413,899 (GRCm39)	L638P	probably benign	Het
Tbccd1	A	T	16: 22,640,995 (GRCm39)	L461M	probably benign	Het
Tecta	T	C	9: 42,289,345 (GRCm39)	T407A	probably benign	Het
Tmbim7	T	C	5: 3,707,493 (GRCm39)		probably null	Het
Tnrc18	C	A	5: 142,800,869 (GRCm39)	V30L	probably benign	Het
Tomm7	A	G	5: 24,049,025 (GRCm39)	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,622,315 (GRCm39)	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,286,324 (GRCm39)	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,614,324 (GRCm39)		probably benign	Het
Vmn2r120	A	T	17: 57,832,038 (GRCm39)	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,950,972 (GRCm39)	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,286,702 (GRCm39)	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,801,267 (GRCm39)	Y582*	probably null	Het
Zfp518a	T	A	19: 40,904,000 (GRCm39)	F1310I	probably benign	Het
Zswim1	A	G	2: 164,667,320 (GRCm39)	I191V	probably benign	Het

Other mutations in Pde8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Pde8b	APN	13	95,170,875 (GRCm39)	missense	probably damaging	1.00
IGL01517:Pde8b	APN	13	95,237,395 (GRCm39)	critical splice donor site	probably null
IGL01736:Pde8b	APN	13	95,166,910 (GRCm39)	missense	probably damaging	1.00
IGL01756:Pde8b	APN	13	95,182,895 (GRCm39)	missense	probably damaging	1.00
IGL01867:Pde8b	APN	13	95,237,446 (GRCm39)	missense	probably damaging	0.99
IGL01939:Pde8b	APN	13	95,232,232 (GRCm39)	missense	probably damaging	0.98
IGL02026:Pde8b	APN	13	95,170,869 (GRCm39)	missense	probably damaging	1.00
IGL02685:Pde8b	APN	13	95,162,628 (GRCm39)	makesense	probably null
IGL02830:Pde8b	APN	13	95,189,409 (GRCm39)	missense	probably benign	0.02
IGL02966:Pde8b	APN	13	95,232,156 (GRCm39)	missense	probably damaging	0.96
IGL03003:Pde8b	APN	13	95,178,465 (GRCm39)	missense	probably damaging	1.00
IGL03064:Pde8b	APN	13	95,182,906 (GRCm39)	missense	probably damaging	1.00
IGL03349:Pde8b	APN	13	95,179,551 (GRCm39)	splice site	probably benign
R0356:Pde8b	UTSW	13	95,182,962 (GRCm39)	missense	probably damaging	0.96
R0464:Pde8b	UTSW	13	95,241,206 (GRCm39)	missense	probably damaging	1.00
R0711:Pde8b	UTSW	13	95,244,325 (GRCm39)	missense	possibly damaging	0.87
R1436:Pde8b	UTSW	13	95,162,678 (GRCm39)	missense	probably benign	0.00
R1467:Pde8b	UTSW	13	95,170,680 (GRCm39)	missense	probably damaging	0.99
R1467:Pde8b	UTSW	13	95,170,680 (GRCm39)	missense	probably damaging	0.99
R1494:Pde8b	UTSW	13	95,184,304 (GRCm39)	missense	probably damaging	1.00
R1546:Pde8b	UTSW	13	95,182,951 (GRCm39)	missense	probably damaging	1.00
R1699:Pde8b	UTSW	13	95,169,374 (GRCm39)	missense	probably damaging	1.00
R1879:Pde8b	UTSW	13	95,221,723 (GRCm39)	missense	possibly damaging	0.95
R2184:Pde8b	UTSW	13	95,162,723 (GRCm39)	missense	probably damaging	1.00
R2223:Pde8b	UTSW	13	95,179,955 (GRCm39)	missense	probably damaging	1.00
R2892:Pde8b	UTSW	13	95,170,767 (GRCm39)	missense	probably damaging	1.00
R3034:Pde8b	UTSW	13	95,359,275 (GRCm39)	missense	probably damaging	1.00
R4204:Pde8b	UTSW	13	95,359,053 (GRCm39)	missense	probably benign	0.22
R4206:Pde8b	UTSW	13	95,359,053 (GRCm39)	missense	probably benign	0.22
R4623:Pde8b	UTSW	13	95,178,447 (GRCm39)	missense	possibly damaging	0.69
R4711:Pde8b	UTSW	13	95,166,958 (GRCm39)	missense	probably benign	0.00
R5133:Pde8b	UTSW	13	95,223,250 (GRCm39)	missense	probably benign	0.05
R5134:Pde8b	UTSW	13	95,223,250 (GRCm39)	missense	probably benign	0.05
R5314:Pde8b	UTSW	13	95,223,361 (GRCm39)	missense	possibly damaging	0.89
R5342:Pde8b	UTSW	13	95,178,498 (GRCm39)	missense	probably damaging	0.99
R5376:Pde8b	UTSW	13	95,162,654 (GRCm39)	missense	probably benign	0.00
R5806:Pde8b	UTSW	13	95,178,548 (GRCm39)	missense	probably damaging	1.00
R5830:Pde8b	UTSW	13	95,178,398 (GRCm39)	missense	probably benign	0.01
R6021:Pde8b	UTSW	13	95,162,670 (GRCm39)	missense	possibly damaging	0.47
R6035:Pde8b	UTSW	13	95,164,105 (GRCm39)	intron	probably benign
R6035:Pde8b	UTSW	13	95,164,105 (GRCm39)	intron	probably benign
R6129:Pde8b	UTSW	13	95,178,467 (GRCm39)	missense	probably damaging	0.98
R6181:Pde8b	UTSW	13	95,223,316 (GRCm39)	missense	probably benign	0.36
R6313:Pde8b	UTSW	13	95,178,508 (GRCm39)	nonsense	probably null
R6849:Pde8b	UTSW	13	95,184,307 (GRCm39)	missense	possibly damaging	0.89
R6914:Pde8b	UTSW	13	95,223,352 (GRCm39)	missense	probably benign	0.06
R6999:Pde8b	UTSW	13	95,223,342 (GRCm39)	missense	possibly damaging	0.91
R7149:Pde8b	UTSW	13	95,223,349 (GRCm39)	missense	probably benign	0.03
R7275:Pde8b	UTSW	13	95,179,442 (GRCm39)	missense	probably damaging	1.00
R7483:Pde8b	UTSW	13	95,164,251 (GRCm39)	missense	probably damaging	1.00
R7553:Pde8b	UTSW	13	95,223,258 (GRCm39)	missense	probably benign	0.21
R7790:Pde8b	UTSW	13	95,170,679 (GRCm39)	missense	probably benign	0.00
R7802:Pde8b	UTSW	13	95,237,446 (GRCm39)	missense	probably damaging	0.99
R7852:Pde8b	UTSW	13	95,244,205 (GRCm39)	missense	probably damaging	1.00
R7872:Pde8b	UTSW	13	95,223,347 (GRCm39)	missense	possibly damaging	0.51
R7897:Pde8b	UTSW	13	95,244,202 (GRCm39)	missense	probably benign	0.01
R8144:Pde8b	UTSW	13	95,359,278 (GRCm39)	missense	probably damaging	0.99
R8792:Pde8b	UTSW	13	95,179,534 (GRCm39)	missense	probably benign
R8850:Pde8b	UTSW	13	95,226,793 (GRCm39)	missense	probably benign	0.01
R8905:Pde8b	UTSW	13	95,182,993 (GRCm39)	missense	probably damaging	1.00
R9252:Pde8b	UTSW	13	95,169,424 (GRCm39)	missense	probably damaging	1.00
R9256:Pde8b	UTSW	13	95,164,204 (GRCm39)	missense	probably damaging	1.00
R9582:Pde8b	UTSW	13	95,169,369 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTCTTGAATCTCCACCCTAG -3'
(R):5'- CTAGTTGCAAAGTGGGGCTG -3'

Sequencing Primer
(F):5'- CAGCCAGACTGTGATATCTGAAATC -3'
(R):5'- CTGGTTAAGCAGTACCAGTGTTTC -3'

Posted On

2014-06-23