Mutagenetix > Incidental Mutations

Incidental Mutation 'R6117:Pde1b'

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485184

Institutional Source

Beutler Lab

Gene Symbol

Pde1b

Ensembl Gene

ENSMUSG00000022489

Gene Name

phosphodiesterase 1B, Ca2+-calmodulin dependent

Synonyms

MMRRC Submission

044266-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6117 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103503034-103530052 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103521482 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 134 (V134A)

Ref Sequence

ENSEMBL: ENSMUSP00000023132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000226468] [ENSMUST00000226493] [ENSMUST00000227955]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023132
AA Change: V134A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: V134A

Domain	Start	End	E-Value	Type
coiled coil region	38	60	N/A	INTRINSIC
Pfam:PDEase_I_N	76	136	1.2e-33	PFAM
HDc	219	383	8.77e-5	SMART
Blast:HDc	394	443	1e-20	BLAST
low complexity region	467	478	N/A	INTRINSIC
low complexity region	511	527	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226468
AA Change: V134A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000226493
AA Change: V134A

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227925

Predicted Effect

probably benign
Transcript: ENSMUST00000227955
AA Change: V115A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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 belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,698,786	Y625C	probably damaging	Het
Ankmy1	A	G	1: 92,861,274		probably benign	Het
Apmap	T	C	2: 150,600,332	T41A	probably benign	Het
Cacna1a	A	G	8: 84,614,721	Y1804C	probably damaging	Het
Cacna1e	A	T	1: 154,561,791	I333N	possibly damaging	Het
Cdsn	C	A	17: 35,555,034	S153R	unknown	Het
Celsr1	A	T	15: 85,932,411	M1777K	probably benign	Het
Cmtr1	A	G	17: 29,682,165	M249V	probably benign	Het
Cmya5	A	G	13: 93,095,166	L1138P	probably damaging	Het
Crim1	A	C	17: 78,303,088	D324A	probably damaging	Het
Dmap1	T	A	4: 117,675,535		probably null	Het
Dnah17	T	C	11: 118,119,571	Y307C	probably benign	Het
Dnah5	T	A	15: 28,270,420	L956H	probably damaging	Het
Enpp3	C	T	10: 24,787,852	S537N	probably damaging	Het
Eya3	T	A	4: 132,711,862	L323Q	probably damaging	Het
Fads3	A	T	19: 10,054,267	H226L	probably damaging	Het
Flrt3	T	A	2: 140,660,445	D421V	possibly damaging	Het
Frmd4a	T	C	2: 4,602,249	V370A	possibly damaging	Het
Gapvd1	T	C	2: 34,690,459		probably null	Het
Gm2178	T	C	14: 26,514,840		probably benign	Het
Gm5592	A	G	7: 41,288,464	N390S	probably benign	Het
Hoxa10	T	A	6: 52,234,820	R39*	probably null	Het
Kcnj1	A	G	9: 32,397,182	T281A	probably damaging	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nacad	T	C	11: 6,599,810	D1127G	probably benign	Het
Naip1	T	A	13: 100,444,737	M1L	probably damaging	Het
Olfr1331	A	T	4: 118,869,144	Y121F	probably benign	Het
Olfr811	G	A	10: 129,801,820	A235V	probably damaging	Het
Olfr811	C	A	10: 129,801,821	A235S	probably damaging	Het
Pcdhb12	G	A	18: 37,435,642		probably benign	Het
Plxnb2	A	T	15: 89,158,000	D1600E	probably benign	Het
Prss54	T	A	8: 95,565,458		probably null	Het
Ryr3	A	T	2: 112,635,396	I4757N	probably damaging	Het
Slc1a6	T	C	10: 78,788,988	Y76H	possibly damaging	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Sox15	G	T	11: 69,655,890	G173V	possibly damaging	Het
Stard3	T	C	11: 98,372,262	S48P	probably damaging	Het
Stk32c	G	A	7: 139,122,923	Q67*	probably null	Het
Svil	T	A	18: 5,116,016	W2101R	probably damaging	Het
Taar7e	T	A	10: 24,038,529	Y306N	probably damaging	Het
Tarbp1	T	A	8: 126,427,541	M1485L	probably benign	Het
Togaram1	A	G	12: 64,967,487	D504G	probably damaging	Het
Trrap	T	C	5: 144,802,961	L1091S	possibly damaging	Het
Unc80	A	G	1: 66,675,067	E2856G	possibly damaging	Het
Usp47	C	T	7: 112,087,932	T699M	probably damaging	Het

Other mutations in Pde1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Pde1b	APN	15	103526680	missense	probably damaging	1.00
IGL01539:Pde1b	APN	15	103525345	splice site	probably benign
IGL01988:Pde1b	APN	15	103524856	splice site	probably null
IGL02380:Pde1b	APN	15	103519990	missense	possibly damaging	0.80
IGL02424:Pde1b	APN	15	103528219	splice site	probably benign
IGL02710:Pde1b	APN	15	103522057	missense	probably damaging	1.00
R0111:Pde1b	UTSW	15	103503513	missense	probably benign
R1302:Pde1b	UTSW	15	103527599	missense	probably benign	0.12
R1312:Pde1b	UTSW	15	103526273	missense	possibly damaging	0.71
R1449:Pde1b	UTSW	15	103525043	missense	probably damaging	0.99
R1631:Pde1b	UTSW	15	103521672	missense	probably damaging	0.97
R1848:Pde1b	UTSW	15	103525340	splice site	probably null
R4032:Pde1b	UTSW	15	103521326	missense	probably damaging	1.00
R4896:Pde1b	UTSW	15	103521374	missense	probably damaging	1.00
R4901:Pde1b	UTSW	15	103526685	missense	probably null	0.92
R5052:Pde1b	UTSW	15	103527648	missense	possibly damaging	0.76
R5935:Pde1b	UTSW	15	103521439	missense	possibly damaging	0.81
R7092:Pde1b	UTSW	15	103527031	missense	probably benign	0.02
R7116:Pde1b	UTSW	15	103528318	missense	possibly damaging	0.82
R7270:Pde1b	UTSW	15	103521655	missense	possibly damaging	0.76
R7359:Pde1b	UTSW	15	103521325	missense	probably damaging	1.00
R7464:Pde1b	UTSW	15	103524829	missense	probably benign	0.05
R8058:Pde1b	UTSW	15	103524811	missense	probably damaging	1.00
R8120:Pde1b	UTSW	15	103522097	missense	possibly damaging	0.91
R8350:Pde1b	UTSW	15	103503474	start codon destroyed	probably benign
R8416:Pde1b	UTSW	15	103515318	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTGTGACTTTCCTTCTGG -3'
(R):5'- CACAGAGGTATACGTTCTCCGG -3'

Sequencing Primer
(F):5'- TGGTCCTCAGGCAAATCCTAG -3'
(R):5'- TCCGGAACATCCTGAGAAAGAAC -3'

Posted On

2017-08-16