Incidental Mutation 'IGL02059:Pde1a'
ID185348
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? Possibly non essential (E-score: 0.276) question?
Stock #IGL02059
Quality Score
Status
Chromosome2
Chromosomal Location79834453-80129458 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 79897077 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 169 (H169Q)
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: H133Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: H133Q

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 possibly damaging
Transcript: ENSMUST00000102651
AA Change: H169Q

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: H169Q

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: H169Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: H169Q

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: H237Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: H237Q

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: H237Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: H237Q

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: H237Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: H237Q

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: H204Q
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: H204Q

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: H237Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: H237Q

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,160,394 probably benign Het
Anks1 A G 17: 28,008,046 M558V possibly damaging Het
Arhgef1 T A 7: 24,912,552 probably benign Het
Atad3a G A 4: 155,754,750 probably benign Het
Bhmt2 A G 13: 93,666,663 Y121H probably benign Het
Cbx5 A G 15: 103,199,765 V151A probably damaging Het
Copa T A 1: 172,099,753 I231N probably damaging Het
Csf3r T A 4: 126,032,127 C168* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah9 A T 11: 66,072,958 I1723N probably damaging Het
Epb42 G A 2: 121,024,707 P466S probably damaging Het
Fem1b C T 9: 62,796,164 V605I possibly damaging Het
Gclc T G 9: 77,787,816 S403A probably damaging Het
Gpr135 A T 12: 72,070,084 V303D possibly damaging Het
Gprin3 C A 6: 59,355,325 probably benign Het
Grik1 T A 16: 88,056,049 Q82L possibly damaging Het
Hacl1 T C 14: 31,632,934 N118D probably benign Het
Hdac9 A G 12: 34,431,968 V146A probably damaging Het
Hltf T C 3: 20,106,457 F763L probably benign Het
Impg2 C T 16: 56,259,972 S713L probably damaging Het
Ints7 T A 1: 191,615,760 M748K probably benign Het
Kalrn A G 16: 34,252,341 S724P possibly damaging Het
Kyat1 T C 2: 30,185,553 Q359R probably benign Het
Mtmr4 A G 11: 87,601,124 N206S possibly damaging Het
Nos3 T C 5: 24,368,998 I227T probably damaging Het
Olfr589 T C 7: 103,155,103 I215V probably benign Het
Ppp1r13b A T 12: 111,833,347 D665E probably damaging Het
Prickle4 G T 17: 47,690,249 L131M probably damaging Het
Prl6a1 T A 13: 27,315,365 Y39N probably benign Het
Slco6d1 T C 1: 98,446,806 V350A possibly damaging Het
Srsf7 T A 17: 80,202,692 S209C probably null Het
Syde2 C T 3: 146,002,172 A622V possibly damaging Het
Ugt1a6a T A 1: 88,138,681 S70T possibly damaging Het
Vmn2r39 T C 7: 9,023,644 I453V probably benign Het
Zc3h7a A G 16: 11,160,998 probably benign Het
Zeb1 G T 18: 5,766,892 V468F probably damaging Het
Zfp148 T A 16: 33,496,563 V493D probably 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
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
X0025:Pde1a UTSW 2 79838930 makesense probably null
Posted On2014-05-07