Mutagenetix > Incidental Mutation

Incidental Mutation 'R9681:Pde1a'

728532

Institutional Source

Beutler Lab

Gene Symbol

Pde1a

Ensembl Gene

ENSMUSG00000059173

Gene Name

phosphodiesterase 1A, calmodulin-dependent

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79664797-79959802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79695465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 494 (A494D)

Ref Sequence

ENSEMBL: ENSMUSP00000099713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090756] [ENSMUST00000102651] [ENSMUST00000102652] [ENSMUST00000102653] [ENSMUST00000102654] [ENSMUST00000102655] [ENSMUST00000183775]

AlphaFold

Q61481

Predicted Effect

probably benign
Transcript: ENSMUST00000090756
AA Change: A390D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: A390D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	1	29	3.4e-11	PFAM
HDc	112	276	5.19e-7	SMART
low complexity region	344	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102651
AA Change: A426D

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: A426D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	5	65	9.3e-32	PFAM
HDc	148	312	5.19e-7	SMART
low complexity region	380	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102652
AA Change: A426D

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: A426D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	5	65	9e-32	PFAM
HDc	148	312	5.19e-7	SMART
low complexity region	380	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102653
AA Change: A494D

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: A494D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	73	133	1.2e-31	PFAM
HDc	216	380	5.19e-7	SMART
low complexity region	448	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102654
AA Change: A494D

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: A494D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	73	133	1.2e-31	PFAM
HDc	216	380	5.19e-7	SMART
low complexity region	448	461	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102655
AA Change: A494D

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: A494D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	73	133	7.8e-35	PFAM
HDc	216	380	5.19e-7	SMART
low complexity region	448	461	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: A447D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	41	101	1.4e-35	PFAM
HDc	184	348	5.19e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183775
AA Change: A494D

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: A494D

Domain	Start	End	E-Value	Type
Pfam:PDEase_I_N	73	133	1.2e-31	PFAM
HDc	216	380	5.19e-7	SMART
low complexity region	448	461	N/A	INTRINSIC

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.] Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	A	G	6: 72,324,450 (GRCm39)	D20G	probably damaging	Het
Acbd3	T	A	1: 180,566,082 (GRCm39)	Y258*	probably null	Het
Adamts1	T	A	16: 85,599,498 (GRCm39)	H34L		Het
Ankmy1	G	T	1: 92,813,882 (GRCm39)	N432K	possibly damaging	Het
Ano1	A	G	7: 144,143,893 (GRCm39)	M966T	possibly damaging	Het
Ark2n	A	T	18: 77,722,989 (GRCm39)	V349D	possibly damaging	Het
C2cd3	A	G	7: 100,023,662 (GRCm39)	T83A	probably benign	Het
Cdk1	T	A	10: 69,178,449 (GRCm39)	D137V	possibly damaging	Het
Cfap299	T	A	5: 98,477,214 (GRCm39)	M1K	probably null	Het
Chia1	A	G	3: 106,037,996 (GRCm39)	Y326C	probably damaging	Het
Ciz1	A	G	2: 32,260,974 (GRCm39)	D295G	possibly damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cr1l	T	C	1: 194,800,149 (GRCm39)	D175G	probably damaging	Het
Crem	A	T	18: 3,268,067 (GRCm39)	V87E	probably damaging	Het
Cyp2b19	T	A	7: 26,466,328 (GRCm39)	L377Q	probably benign	Het
Ddx42	T	A	11: 106,125,679 (GRCm39)	V243D	probably damaging	Het
Dnah14	T	C	1: 181,562,414 (GRCm39)	V2658A	possibly damaging	Het
Dnah3	T	G	7: 119,677,611 (GRCm39)	M437L	probably benign	Het
Flrt2	T	A	12: 95,745,425 (GRCm39)		probably benign	Het
Gm10142	T	A	10: 77,551,880 (GRCm39)	C80*	probably null	Het
Gpr158	A	G	2: 21,831,315 (GRCm39)	E805G	probably damaging	Het
Grwd1	T	C	7: 45,479,473 (GRCm39)	E134G	probably benign	Het
Hdac11	T	A	6: 91,150,068 (GRCm39)	V289D	probably benign	Het
Hsdl1	T	C	8: 120,293,081 (GRCm39)	E118G	possibly damaging	Het
Igdcc4	T	A	9: 65,041,858 (GRCm39)	L1095Q	possibly damaging	Het
Ildr1	T	A	16: 36,528,749 (GRCm39)	C65S	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Itsn2	G	T	12: 4,683,499 (GRCm39)	V341F	unknown	Het
Jak1	G	A	4: 101,019,085 (GRCm39)	R723C	probably damaging	Het
Limch1	A	G	5: 67,126,422 (GRCm39)	T8A	probably damaging	Het
Limd1	T	A	9: 123,345,903 (GRCm39)	C561S	possibly damaging	Het
Map3k19	A	G	1: 127,750,097 (GRCm39)	F1085L	possibly damaging	Het
Mcm7	A	T	5: 138,164,220 (GRCm39)	Y600*	probably null	Het
Mecom	A	T	3: 30,033,803 (GRCm39)	D300E	probably benign	Het
Mfap4	T	A	11: 61,376,925 (GRCm39)	Y51*	probably null	Het
Mug1	T	A	6: 121,833,254 (GRCm39)	N286K	probably benign	Het
Myl2	A	T	5: 122,240,783 (GRCm39)	R40*	probably null	Het
Nom1	A	G	5: 29,642,623 (GRCm39)	S375G	probably damaging	Het
Nrcam	C	A	12: 44,598,133 (GRCm39)	P368Q	probably null	Het
Oca2	G	C	7: 55,943,623 (GRCm39)	Q265H	probably null	Het
Or52a20	T	A	7: 103,366,475 (GRCm39)	F225I	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or5k8	T	A	16: 58,644,176 (GRCm39)	N299Y	possibly damaging	Het
Or6c88	A	T	10: 129,406,664 (GRCm39)	T47S	probably damaging	Het
Or7a41	G	A	10: 78,871,577 (GRCm39)	D316N	probably benign	Het
Palmd	T	C	3: 116,717,120 (GRCm39)	E459G	probably benign	Het
Pds5a	T	C	5: 65,808,587 (GRCm39)	Y428C	probably damaging	Het
Pgm2	T	C	5: 64,254,391 (GRCm39)	F59L	probably benign	Het
Plekhm1	A	G	11: 103,258,950 (GRCm39)	V980A	possibly damaging	Het
Polb	T	C	8: 23,118,346 (GRCm39)	D318G	possibly damaging	Het
Rasgef1c	T	A	11: 49,861,040 (GRCm39)	M335K	probably damaging	Het
Rasgrp4	T	C	7: 28,849,687 (GRCm39)	S651P	probably benign	Het
Robo3	A	C	9: 37,334,558 (GRCm39)	I624S	possibly damaging	Het
Robo3	T	A	9: 37,339,087 (GRCm39)	H290L	probably benign	Het
Rps6kl1	T	C	12: 85,183,599 (GRCm39)	H482R	probably damaging	Het
Slc26a9	A	T	1: 131,681,691 (GRCm39)	E168V	probably benign	Het
Slc3a2	T	C	19: 8,691,226 (GRCm39)		probably benign	Het
Slc4a4	A	T	5: 89,102,723 (GRCm39)	K54*	probably null	Het
Slitrk6	A	G	14: 110,988,258 (GRCm39)	L483P	probably damaging	Het
Svep1	T	A	4: 58,084,959 (GRCm39)	N1793I	probably damaging	Het
Ttn	T	C	2: 76,612,723 (GRCm39)	I17119V	possibly damaging	Het
Tulp4	T	C	17: 6,274,500 (GRCm39)	L617P	possibly damaging	Het
Uhrf1	A	G	17: 56,625,083 (GRCm39)	N542S	possibly damaging	Het
Vmn1r151	T	A	7: 22,198,368 (GRCm39)	T246S	probably damaging	Het
Vmn1r57	T	A	7: 5,224,069 (GRCm39)	V198E	probably damaging	Het
Vmn2r99	A	T	17: 19,598,889 (GRCm39)	Q191L	probably damaging	Het
Vrk3	C	T	7: 44,403,356 (GRCm39)	T39M	possibly damaging	Het
Zc3h3	C	A	15: 75,681,470 (GRCm39)	R537L	probably damaging	Het
Zfp64	A	T	2: 168,793,680 (GRCm39)	V22E	probably damaging	Het
Zwint	T	C	10: 72,493,112 (GRCm39)	L218P	probably damaging	Het

Other mutations in Pde1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Pde1a	APN	2	79,696,014 (GRCm39)	missense	probably damaging	1.00
IGL01860:Pde1a	APN	2	79,705,628 (GRCm39)	missense	probably damaging	1.00
IGL02059:Pde1a	APN	2	79,727,421 (GRCm39)	missense	possibly damaging	0.64
IGL02307:Pde1a	APN	2	79,736,412 (GRCm39)	missense	possibly damaging	0.70
IGL02376:Pde1a	APN	2	79,705,567 (GRCm39)	splice site	probably benign
IGL02569:Pde1a	APN	2	79,698,602 (GRCm39)	missense	probably benign	0.04
IGL03038:Pde1a	APN	2	79,718,290 (GRCm39)	splice site	probably benign
G5030:Pde1a	UTSW	2	79,718,180 (GRCm39)	splice site	probably benign
R0099:Pde1a	UTSW	2	79,698,657 (GRCm39)	critical splice acceptor site	probably null
R0549:Pde1a	UTSW	2	79,695,414 (GRCm39)	missense	probably damaging	1.00
R0960:Pde1a	UTSW	2	79,695,378 (GRCm39)	splice site	probably benign
R1855:Pde1a	UTSW	2	79,728,408 (GRCm39)	critical splice donor site	probably null
R1907:Pde1a	UTSW	2	79,698,651 (GRCm39)	missense	probably damaging	1.00
R1972:Pde1a	UTSW	2	79,696,065 (GRCm39)	missense	probably damaging	0.99
R2262:Pde1a	UTSW	2	79,959,275 (GRCm39)	start gained	probably benign
R4658:Pde1a	UTSW	2	79,728,525 (GRCm39)	critical splice acceptor site	probably benign
R4674:Pde1a	UTSW	2	79,728,525 (GRCm39)	critical splice acceptor site	probably benign
R4842:Pde1a	UTSW	2	79,959,181 (GRCm39)	utr 5 prime	probably benign
R4878:Pde1a	UTSW	2	79,708,483 (GRCm39)	missense	probably benign	0.05
R5161:Pde1a	UTSW	2	79,708,488 (GRCm39)	missense	probably null	1.00
R5473:Pde1a	UTSW	2	79,736,372 (GRCm39)	missense	probably damaging	1.00
R5940:Pde1a	UTSW	2	79,718,183 (GRCm39)	critical splice donor site	probably null
R5976:Pde1a	UTSW	2	79,698,586 (GRCm39)	nonsense	probably null
R6016:Pde1a	UTSW	2	79,695,406 (GRCm39)	missense	probably benign	0.01
R6242:Pde1a	UTSW	2	79,959,136 (GRCm39)	missense	probably benign
R6248:Pde1a	UTSW	2	79,708,545 (GRCm39)	missense	probably damaging	1.00
R6609:Pde1a	UTSW	2	79,736,484 (GRCm39)	missense	probably damaging	1.00
R6858:Pde1a	UTSW	2	79,959,502 (GRCm39)	unclassified	probably benign
R7161:Pde1a	UTSW	2	79,695,558 (GRCm39)	missense	probably benign	0.00
R8686:Pde1a	UTSW	2	79,758,086 (GRCm39)	missense	probably benign	0.00
R8813:Pde1a	UTSW	2	79,959,261 (GRCm39)	start gained	probably benign
R8835:Pde1a	UTSW	2	79,708,522 (GRCm39)	missense	probably damaging	1.00
X0025:Pde1a	UTSW	2	79,669,274 (GRCm39)	makesense	probably null
Z1176:Pde1a	UTSW	2	79,736,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACCAGCAAGAGTTTGTGTG -3'
(R):5'- TTACATCTGGGCCCATGTGAC -3'

Sequencing Primer
(F):5'- TGTGTGTTTTATAAAAGAAGCACATC -3'
(R):5'- CTCTGAGGCGGTCAAATA -3'

Posted On

2022-10-06