Mutagenetix > Incidental Mutations

Incidental Mutation 'R4878:Pde1a'

375034

Institutional Source

Beutler Lab

Gene Symbol

Pde1a

Ensembl Gene

ENSMUSG00000059173

Gene Name

phosphodiesterase 1A, calmodulin-dependent

Synonyms

MMRRC Submission

042487-MU

Accession Numbers

Genbank: NM_001159582, NM_016744, NM_001009978, NM_001009979

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79834453-80129458 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79878139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 312 (S312T)

Ref Sequence

ENSEMBL: ENSMUSP00000139327 (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: S208T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: S208T

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: S244T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: S244T

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: S244T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: S244T

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: S312T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: S312T

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: S312T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: S312T

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: S312T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: S312T

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: S279T

SMART Domains

Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: S279T

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: S312T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: S312T

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

0.0686

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gm884	A	G	11: 103,617,891		probably benign	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	Het

Other mutations in Pde1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Pde1a	APN	2	79865670	missense	probably damaging	1.00
IGL01860:Pde1a	APN	2	79875284	missense	probably damaging	1.00
IGL02059:Pde1a	APN	2	79897077	missense	possibly damaging	0.64
IGL02307:Pde1a	APN	2	79906068	missense	possibly damaging	0.70
IGL02376:Pde1a	APN	2	79875223	splice site	probably benign
IGL02569:Pde1a	APN	2	79868258	missense	probably benign	0.04
IGL03038:Pde1a	APN	2	79887946	splice site	probably benign
G5030:Pde1a	UTSW	2	79887836	splice site	probably benign
R0099:Pde1a	UTSW	2	79868313	critical splice acceptor site	probably null
R0549:Pde1a	UTSW	2	79865070	missense	probably damaging	1.00
R0960:Pde1a	UTSW	2	79865034	splice site	probably benign
R1855:Pde1a	UTSW	2	79898064	critical splice donor site	probably null
R1907:Pde1a	UTSW	2	79868307	missense	probably damaging	1.00
R1972:Pde1a	UTSW	2	79865721	missense	probably damaging	0.99
R2262:Pde1a	UTSW	2	80128931	start gained	probably benign
R4658:Pde1a	UTSW	2	79898181	critical splice acceptor site	probably benign
R4674:Pde1a	UTSW	2	79898181	critical splice acceptor site	probably benign
R4842:Pde1a	UTSW	2	80128837	utr 5 prime	probably benign
R5161:Pde1a	UTSW	2	79878144	missense	probably null	1.00
R5473:Pde1a	UTSW	2	79906028	missense	probably damaging	1.00
R5940:Pde1a	UTSW	2	79887839	critical splice donor site	probably null
R5976:Pde1a	UTSW	2	79868242	nonsense	probably null
R6016:Pde1a	UTSW	2	79865062	missense	probably benign	0.01
R6242:Pde1a	UTSW	2	80128792	missense	probably benign
R6248:Pde1a	UTSW	2	79878201	missense	probably damaging	1.00
R6609:Pde1a	UTSW	2	79906140	missense	probably damaging	1.00
R6858:Pde1a	UTSW	2	80129158	unclassified	probably benign
R7161:Pde1a	UTSW	2	79865214	missense	probably benign	0.00
R8686:Pde1a	UTSW	2	79927742	missense	probably benign	0.00
R8813:Pde1a	UTSW	2	80128917	start gained	probably benign
R8835:Pde1a	UTSW	2	79878178	missense	probably damaging	1.00
X0025:Pde1a	UTSW	2	79838930	makesense	probably null
Z1176:Pde1a	UTSW	2	79906028	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAGTTTCTGTCTATCCAGCAGC -3'
(R):5'- GCAAGGTTTTCAGTGTTCAATAACG -3'

Sequencing Primer
(F):5'- TCTGTCTATCCAGCAGCAGAGATG -3'
(R):5'- CCAGTGTGATGACTACTTACTATGG -3'

Posted On

2016-03-17