Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:Pde1b'

712192

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 #

R9418 (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 G at 103433464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 294 (H294R)

Ref Sequence

ENSEMBL: ENSMUSP00000023132 (fasta)

Gene Model

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

AlphaFold

Q01065

Predicted Effect

probably damaging
Transcript: ENSMUST00000023132
AA Change: H294R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: H294R

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: H294R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000226493

Predicted Effect

probably damaging
Transcript: ENSMUST00000227955
AA Change: H275R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	A	5: 138,645,317 (GRCm39)	G401R	probably damaging	Het
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dcaf4	A	T	12: 83,586,606 (GRCm39)	Y422F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gpr171	T	C	3: 59,004,999 (GRCm39)	T259A	possibly damaging	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mab21l4	A	C	1: 93,087,710 (GRCm39)	L48V	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc22a19	A	T	19: 7,660,210 (GRCm39)	M400K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het
Zfp467	A	T	6: 48,415,990 (GRCm39)	C221S	probably 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
R9498:Pde1b	UTSW	15	103,435,489 (GRCm39)	missense	probably benign	0.10
R9709:Pde1b	UTSW	15	103,411,985 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TGCCTGTCAGAGATTGAGGTC -3'
(R):5'- CTTTCAGCAAGGGGTAGGAC -3'

Sequencing Primer
(F):5'- TGCAGCCATCCATGACTATGAG -3'
(R):5'- GGATAAGAGTTTCGGGGAT -3'

Posted On

2022-05-16