Mutagenetix > Incidental Mutation

Incidental Mutation 'R7116:Pde1b'

551800

Institutional Source

Beutler Lab

Gene Symbol

Pde1b

Ensembl Gene

ENSMUSG00000022489

Gene Name

phosphodiesterase 1B, Ca2+-calmodulin dependent

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7116 (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 103528318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 534 (L534P)

Ref Sequence

ENSEMBL: ENSMUSP00000023132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000023133] [ENSMUST00000226468] [ENSMUST00000227955]

AlphaFold

Q01065

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023132
AA Change: L534P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: L534P

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 benign
Transcript: ENSMUST00000023133

SMART Domains

Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490

Domain	Start	End	E-Value	Type
Pfam:DARPP-32	2	165	2.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226468

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227955
AA Change: L515P

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Rsbn1	T	A	3: 103,914,576	C3*	probably null	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
R6117:Pde1b	UTSW	15	103521482	missense	probably damaging	0.99
R7092:Pde1b	UTSW	15	103527031	missense	probably benign	0.02
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
R8772:Pde1b	UTSW	15	103525121	splice site	probably benign
R8781:Pde1b	UTSW	15	103525300	missense	probably damaging	1.00
R8993:Pde1b	UTSW	15	103521425	missense	probably benign	0.10
R9418:Pde1b	UTSW	15	103525037	missense	probably damaging	0.96
R9498:Pde1b	UTSW	15	103527062	missense	probably benign	0.10
R9709:Pde1b	UTSW	15	103503558	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TGGTAGATGAGGGTCAGTCC -3'
(R):5'- TTCAAGAAAGGACTGTGGGACC -3'

Sequencing Primer
(F):5'- AGGGTCAGTCCTCTTATTTTCTTCAC -3'
(R):5'- AAGGTAGTAGGAGTCCCTTGC -3'

Posted On

2019-05-15