Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Pde1a'

557554

Institutional Source

Beutler Lab

Gene Symbol

Pde1a

Ensembl Gene

ENSMUSG00000059173

Gene Name

phosphodiesterase 1A, calmodulin-dependent

Synonyms

MMRRC Submission

045260-MU

Accession Numbers

Genbank: NM_001159582, NM_016744, NM_001009978, NM_001009979

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79834453-80129458 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79865214 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 463 (M463T)

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: M359T

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

SMART Domains

Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: M359T

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: M395T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: M395T

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: M395T

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

SMART Domains

Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: M395T

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: M463T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: M463T

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: M463T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: M463T

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: M463T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: M463T

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

probably benign
Transcript: ENSMUST00000134739

SMART Domains

Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173

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: M463T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: M463T

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	probably benign	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
R4878:Pde1a	UTSW	2	79878139	missense	probably benign	0.05
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
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
R9681:Pde1a	UTSW	2	79865121	missense	probably benign	0.31
X0025:Pde1a	UTSW	2	79838930	makesense	probably null
Z1176:Pde1a	UTSW	2	79906028	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAACTGTACCTTGGGCAGC -3'
(R):5'- CCCTTTGCAACTGATCATGGTC -3'

Sequencing Primer
(F):5'- TGTACCTTGGGCAGCCAACTC -3'
(R):5'- AACCTGTCTCGTATGGTC -3'

Posted On

2019-06-26