Incidental Mutation 'IGL02569:Pde1a'
ID298955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pde1a
Ensembl Gene ENSMUSG00000059173
Gene Namephosphodiesterase 1A, calmodulin-dependent
Synonyms
Accession Numbers

Genbank: NM_001159582, NM_016744, NM_001009978, NM_001009979

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02569
Quality Score
Status
Chromosome2
Chromosomal Location79834453-80129458 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 79868258 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 341 (K341N)
Ref Sequence ENSEMBL: ENSMUSP00000099711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090756] [ENSMUST00000102651] [ENSMUST00000102652] [ENSMUST00000102653] [ENSMUST00000102654] [ENSMUST00000102655] [ENSMUST00000183775]
Predicted Effect probably benign
Transcript: ENSMUST00000090756
AA Change: K305N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: K305N

DomainStartEndE-ValueType
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: K341N

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: K341N

DomainStartEndE-ValueType
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: K341N

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: K341N

DomainStartEndE-ValueType
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: K409N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: K409N

DomainStartEndE-ValueType
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: K409N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: K409N

DomainStartEndE-ValueType
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: K409N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: K409N

DomainStartEndE-ValueType
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: K376N
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: K376N

DomainStartEndE-ValueType
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: K409N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: K409N

DomainStartEndE-ValueType
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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A C 7: 140,298,362 I885L probably benign Het
Abca1 T C 4: 53,034,061 D2223G probably damaging Het
Brd1 A G 15: 88,713,929 L538P probably damaging Het
Cacna2d2 T C 9: 107,514,046 V424A probably damaging Het
Capg A C 6: 72,561,049 E306A probably damaging Het
Cdc14b T C 13: 64,225,614 Y115C probably benign Het
Crat G A 2: 30,404,530 R509W probably damaging Het
Ddx60 A G 8: 62,024,951 N1594S possibly damaging Het
Fabp2 T C 3: 122,895,464 F18L probably damaging Het
Fam187a A G 11: 102,886,159 K263R probably benign Het
Fam227a C T 15: 79,634,122 C323Y probably benign Het
Fas A G 19: 34,320,562 E210G possibly damaging Het
Fgfbp1 A G 5: 43,979,227 F241S probably damaging Het
Gramd1a A T 7: 31,130,507 probably benign Het
Hmcn1 A T 1: 150,697,493 M2135K probably benign Het
Ikbkb G T 8: 22,693,883 Q84K probably damaging Het
Kcnk9 T C 15: 72,512,577 T251A probably benign Het
Mphosph9 C A 5: 124,297,571 E600* probably null Het
Olfr694 T A 7: 106,689,642 T30S probably benign Het
Olfr705 T A 7: 106,714,586 I32L probably benign Het
Prune2 A G 19: 17,178,859 N2792S probably damaging Het
Slc17a3 A G 13: 23,846,302 Y132C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St6galnac1 T C 11: 116,767,702 D312G probably damaging Het
Tardbp A G 4: 148,619,182 probably null Het
Tex9 C T 9: 72,478,363 V8I probably damaging Het
Tpr T A 1: 150,425,631 probably benign Het
Ttll8 C T 15: 88,933,926 W182* probably null Het
Vmn2r61 G A 7: 42,276,646 G525E probably damaging Het
Zfp111 T C 7: 24,207,069 T2A possibly damaging Het
Other mutations in Pde1a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7161:Pde1a UTSW 2 79865214 missense probably benign 0.00
X0025:Pde1a UTSW 2 79838930 makesense probably null
Z1176:Pde1a UTSW 2 79906028 missense probably damaging 1.00
Posted On2015-04-16