Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Pde1b'

717391

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 #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103411461-103438479 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103435489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 448 (D448V)

Ref Sequence

ENSEMBL: ENSMUSP00000023132 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023132] [ENSMUST00000023133] [ENSMUST00000226468] [ENSMUST00000226493] [ENSMUST00000227955]

AlphaFold

Q01065

Predicted Effect

probably benign
Transcript: ENSMUST00000023132
AA Change: D448V

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: D448V

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
AA Change: D448V

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000226493

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227955
AA Change: D429V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Slc29a4	T	A	5: 142,704,233 (GRCm39)	S296T	probably benign	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	possibly damaging	Het

Other mutations in Pde1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Pde1b	APN	15	103,435,107 (GRCm39)	missense	probably damaging	1.00
IGL01539:Pde1b	APN	15	103,433,772 (GRCm39)	splice site	probably benign
IGL01988:Pde1b	APN	15	103,433,283 (GRCm39)	splice site	probably null
IGL02380:Pde1b	APN	15	103,428,417 (GRCm39)	missense	possibly damaging	0.80
IGL02424:Pde1b	APN	15	103,436,646 (GRCm39)	splice site	probably benign
IGL02710:Pde1b	APN	15	103,430,484 (GRCm39)	missense	probably damaging	1.00
R0111:Pde1b	UTSW	15	103,411,940 (GRCm39)	missense	probably benign
R1302:Pde1b	UTSW	15	103,436,026 (GRCm39)	missense	probably benign	0.12
R1312:Pde1b	UTSW	15	103,434,700 (GRCm39)	missense	possibly damaging	0.71
R1449:Pde1b	UTSW	15	103,433,470 (GRCm39)	missense	probably damaging	0.99
R1631:Pde1b	UTSW	15	103,430,099 (GRCm39)	missense	probably damaging	0.97
R1848:Pde1b	UTSW	15	103,433,767 (GRCm39)	splice site	probably null
R4032:Pde1b	UTSW	15	103,429,753 (GRCm39)	missense	probably damaging	1.00
R4896:Pde1b	UTSW	15	103,429,801 (GRCm39)	missense	probably damaging	1.00
R4901:Pde1b	UTSW	15	103,435,112 (GRCm39)	missense	probably null	0.92
R5052:Pde1b	UTSW	15	103,436,075 (GRCm39)	missense	possibly damaging	0.76
R5935:Pde1b	UTSW	15	103,429,866 (GRCm39)	missense	possibly damaging	0.81
R6117:Pde1b	UTSW	15	103,429,909 (GRCm39)	missense	probably damaging	0.99
R7092:Pde1b	UTSW	15	103,435,458 (GRCm39)	missense	probably benign	0.02
R7116:Pde1b	UTSW	15	103,436,745 (GRCm39)	missense	possibly damaging	0.82
R7270:Pde1b	UTSW	15	103,430,082 (GRCm39)	missense	possibly damaging	0.76
R7359:Pde1b	UTSW	15	103,429,752 (GRCm39)	missense	probably damaging	1.00
R7464:Pde1b	UTSW	15	103,433,256 (GRCm39)	missense	probably benign	0.05
R8058:Pde1b	UTSW	15	103,433,238 (GRCm39)	missense	probably damaging	1.00
R8120:Pde1b	UTSW	15	103,430,524 (GRCm39)	missense	possibly damaging	0.91
R8350:Pde1b	UTSW	15	103,411,901 (GRCm39)	start codon destroyed	probably benign
R8416:Pde1b	UTSW	15	103,423,745 (GRCm39)	start gained	probably benign
R8772:Pde1b	UTSW	15	103,433,548 (GRCm39)	splice site	probably benign
R8781:Pde1b	UTSW	15	103,433,727 (GRCm39)	missense	probably damaging	1.00
R8993:Pde1b	UTSW	15	103,429,852 (GRCm39)	missense	probably benign	0.10
R9418:Pde1b	UTSW	15	103,433,464 (GRCm39)	missense	probably damaging	0.96
R9709:Pde1b	UTSW	15	103,411,985 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CTCCAAGTTGTTCCCAATGGG -3'
(R):5'- ATCCTTTTGTAACAAGCAGAGAGG -3'

Sequencing Primer
(F):5'- AAGTCATTTCTCCAGGCCTTG -3'
(R):5'- CTTTTGTAACAAGCAGAGAGGCTCTC -3'

Posted On

2022-07-18