Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Pde1a'

505275

Institutional Source

Beutler Lab

Gene Symbol

Pde1a

Ensembl Gene

ENSMUSG00000059173

Gene Name

phosphodiesterase 1A, calmodulin-dependent

Synonyms

MMRRC Submission

044434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79664797-79959802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79959136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 15 (T15S)

Ref Sequence

ENSEMBL: ENSMUSP00000139327 (fasta)

Gene Model

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

AlphaFold

Q61481

Predicted Effect

probably benign
Transcript: ENSMUST00000102653
AA Change: T15S

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

SMART Domains

Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: T15S

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: T15S

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

SMART Domains

Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: T15S

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: T15S

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

SMART Domains

Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: T15S

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

noncoding transcript
Transcript: ENSMUST00000121276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125887

Predicted Effect

probably benign
Transcript: ENSMUST00000183775
AA Change: T15S

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

SMART Domains

Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: T15S

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

0.0591

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,501,896 (GRCm39)	C239*	probably null	Het
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Or5b106	T	A	19: 13,123,450 (GRCm39)	H191L	probably benign	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pgr	T	A	9: 8,900,980 (GRCm39)	I171N	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slc6a4	A	T	11: 76,909,184 (GRCm39)	K399*	probably null	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tab1	A	T	15: 80,039,971 (GRCm39)	K264*	probably null	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,740,867 (GRCm39)	R6C	possibly 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
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'- TGCTTTCAACAAGTTGCTAGC -3'
(R):5'- TTGCGTCCCTGAACTGTTTG -3'

Sequencing Primer
(F):5'- TTCAACAAGTTGCTAGCTGAAATGGG -3'
(R):5'- CCCTGAACTGTTTGGATGGCTAAG -3'

Posted On

2018-02-28