Mutagenetix > Incidental Mutation

Incidental Mutation 'R1972:Pde1a'

221025

Institutional Source

Beutler Lab

Gene Symbol

Pde1a

Ensembl Gene

ENSMUSG00000059173

Gene Name

phosphodiesterase 1A, calmodulin-dependent

Synonyms

MMRRC Submission

039985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79664797-79959802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79696065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 358 (E358G)

Ref Sequence

ENSEMBL: ENSMUSP00000099711 (fasta)

Gene Model

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

AlphaFold

Q61481

Predicted Effect

probably damaging
Transcript: ENSMUST00000090756
AA Change: E322G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: E322G

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 damaging
Transcript: ENSMUST00000102651
AA Change: E358G

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

SMART Domains

Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: E358G

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 damaging
Transcript: ENSMUST00000102652
AA Change: E358G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: E358G

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 damaging
Transcript: ENSMUST00000102653
AA Change: E426G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: E426G

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 damaging
Transcript: ENSMUST00000102654
AA Change: E426G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: E426G

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 damaging
Transcript: ENSMUST00000102655
AA Change: E426G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: E426G

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

unknown
Transcript: ENSMUST00000134739
AA Change: E393G

SMART Domains

Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: E393G

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 damaging
Transcript: ENSMUST00000183775
AA Change: E426G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: E426G

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

Meta Mutation Damage Score

0.3366

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,717,050 (GRCm39)		probably benign	Het
Bbs2	A	G	8: 94,807,805 (GRCm39)		probably benign	Het
Bcl9	A	C	3: 97,114,518 (GRCm39)	D1035E	probably damaging	Het
Bmpr2	A	G	1: 59,852,762 (GRCm39)	E31G	possibly damaging	Het
Borcs5	A	G	6: 134,687,137 (GRCm39)	D164G	probably damaging	Het
Cap2	A	G	13: 46,791,375 (GRCm39)	R181G	probably damaging	Het
Ccdc113	A	T	8: 96,264,874 (GRCm39)	H128L	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chat	C	T	14: 32,146,148 (GRCm39)	V342I	probably benign	Het
Chrm4	C	T	2: 91,757,838 (GRCm39)	A82V	probably benign	Het
Cyp2d22	A	T	15: 82,260,028 (GRCm39)	M52K	probably benign	Het
Dennd2c	T	C	3: 103,039,014 (GRCm39)	V54A	probably benign	Het
Dgka	C	T	10: 128,556,335 (GRCm39)	G717D	probably damaging	Het
Dnah1	C	T	14: 30,987,348 (GRCm39)	W3550*	probably null	Het
Eif2ak1	A	G	5: 143,821,532 (GRCm39)	T283A	probably benign	Het
Entrep2	A	T	7: 64,425,516 (GRCm39)	I192N	possibly damaging	Het
Fcgbp	A	T	7: 27,793,617 (GRCm39)	Y1173F	probably benign	Het
Flt1	G	A	5: 147,591,903 (GRCm39)		probably benign	Het
Gpr149	T	C	3: 62,438,216 (GRCm39)	K647R	probably benign	Het
Gsdma2	T	C	11: 98,541,744 (GRCm39)	V157A	probably benign	Het
Heatr4	T	A	12: 84,001,794 (GRCm39)	I884F	probably damaging	Het
Ift56	C	A	6: 38,387,738 (GRCm39)	N396K	probably benign	Het
Il17ra	A	G	6: 120,459,177 (GRCm39)	E776G	probably benign	Het
Inpp5d	T	C	1: 87,604,036 (GRCm39)	S235P	probably benign	Het
Iqgap3	T	A	3: 87,991,235 (GRCm39)		probably null	Het
Isoc2a	T	A	7: 4,895,086 (GRCm39)	D171E	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kcnk12	T	C	17: 88,104,560 (GRCm39)	D108G	possibly damaging	Het
Klra9	A	T	6: 130,159,345 (GRCm39)		probably null	Het
Lgmn	A	G	12: 102,362,080 (GRCm39)		probably benign	Het
Morf4l1	A	T	9: 89,977,267 (GRCm39)		probably benign	Het
Mthfr	T	C	4: 148,136,384 (GRCm39)	I380T	probably damaging	Het
Mybpc1	T	C	10: 88,387,404 (GRCm39)	I436V	probably benign	Het
Naip5	A	G	13: 100,349,278 (GRCm39)	V1350A	probably damaging	Het
Neil2	A	T	14: 63,423,526 (GRCm39)	C36S	possibly damaging	Het
Nlrx1	A	G	9: 44,164,753 (GRCm39)	V897A	probably benign	Het
Nod2	A	T	8: 89,379,501 (GRCm39)	M8L	probably damaging	Het
Nop2	A	G	6: 125,111,602 (GRCm39)	T112A	probably benign	Het
Nrap	T	A	19: 56,345,785 (GRCm39)	T608S	probably damaging	Het
Nuak2	A	T	1: 132,258,340 (GRCm39)	H257L	probably damaging	Het
Or10x1	T	C	1: 174,197,136 (GRCm39)	F218L	probably benign	Het
Or2ag12	T	C	7: 106,277,426 (GRCm39)	D89G	probably benign	Het
Or4c113	A	T	2: 88,884,891 (GRCm39)	M293K	probably benign	Het
Or52e8	T	C	7: 104,625,106 (GRCm39)	I33V	possibly damaging	Het
Or5ac25	A	T	16: 59,182,476 (GRCm39)	V35D	probably damaging	Het
Or5b119	T	C	19: 13,457,058 (GRCm39)	N168S	probably benign	Het
Or8b40	T	A	9: 38,027,863 (GRCm39)	M257K	possibly damaging	Het
Pdlim1	A	T	19: 40,211,581 (GRCm39)	S237R	probably damaging	Het
Pithd1	T	C	4: 135,714,340 (GRCm39)	D36G	probably damaging	Het
Ppp2r3d	A	G	9: 101,088,976 (GRCm39)	F449S	probably benign	Het
Prr11	G	A	11: 86,989,580 (GRCm39)	R264C	possibly damaging	Het
Rbm43	A	T	2: 51,815,548 (GRCm39)	H224Q	probably benign	Het
Rfx5	C	T	3: 94,864,603 (GRCm39)	L250F	probably damaging	Het
Rgs22	T	A	15: 36,103,982 (GRCm39)	I160L	probably benign	Het
Rorb	T	A	19: 18,929,567 (GRCm39)	Q393H	probably damaging	Het
Rpl13a	T	A	7: 44,775,419 (GRCm39)	K368*	probably null	Het
Scaf8	T	G	17: 3,219,646 (GRCm39)	S276R	unknown	Het
Scube2	A	T	7: 109,408,421 (GRCm39)	N675K	probably benign	Het
Sec22c	A	T	9: 121,517,320 (GRCm39)	M126K	possibly damaging	Het
Serpinb11	T	C	1: 107,297,210 (GRCm39)	F29L	probably damaging	Het
Sis	A	G	3: 72,828,337 (GRCm39)	F1217S	probably damaging	Het
Slc18a2	A	G	19: 59,263,085 (GRCm39)	D294G	possibly damaging	Het
Slc9c1	A	G	16: 45,413,835 (GRCm39)	T988A	possibly damaging	Het
Smndc1	A	C	19: 53,371,986 (GRCm39)		probably null	Het
Sned1	G	A	1: 93,192,795 (GRCm39)	G361S	probably damaging	Het
Spatc1	A	T	15: 76,169,075 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,796,180 (GRCm39)	C356S	probably damaging	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tbc1d30	A	T	10: 121,142,135 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,681,626 (GRCm39)	E2668G	probably damaging	Het
Tigar	A	G	6: 127,064,889 (GRCm39)	V253A	possibly damaging	Het
Tmc2	T	A	2: 130,056,584 (GRCm39)		probably benign	Het
Ugt1a10	A	T	1: 87,983,769 (GRCm39)	Y189F	probably damaging	Het
Vmn2r82	A	G	10: 79,214,680 (GRCm39)	D221G	probably damaging	Het
Xkr5	C	T	8: 18,991,997 (GRCm39)	V131M	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
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
R9681:Pde1a	UTSW	2	79,695,465 (GRCm39)	missense	probably benign	0.31
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'- ATAGACACTAGATGGCAGTACTACC -3'
(R):5'- GCTGCCTCTGAAGGTTGTTAC -3'

Sequencing Primer
(F):5'- GGCAGTACTACCTAATAATTACTGC -3'
(R):5'- CTGTCCACAGCTTAGCCAG -3'

Posted On

2014-08-25