Incidental Mutation 'R5161:Pde1a'
ID 396981
Institutional Source Beutler Lab
Gene Symbol Pde1a
Ensembl Gene ENSMUSG00000059173
Gene Name phosphodiesterase 1A, calmodulin-dependent
Synonyms
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 79664797-79959802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79708488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 242 (N242S)
Ref Sequence ENSEMBL: ENSMUSP00000099711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090756] [ENSMUST00000102651] [ENSMUST00000102652] [ENSMUST00000102653] [ENSMUST00000102654] [ENSMUST00000102655] [ENSMUST00000183775]
AlphaFold Q61481
Predicted Effect probably null
Transcript: ENSMUST00000090756
AA Change: N206S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: N206S

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 null
Transcript: ENSMUST00000102651
AA Change: N242S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: N242S

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 null
Transcript: ENSMUST00000102652
AA Change: N242S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: N242S

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 null
Transcript: ENSMUST00000102653
AA Change: N310S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: N310S

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 null
Transcript: ENSMUST00000102654
AA Change: N310S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: N310S

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 null
Transcript: ENSMUST00000102655
AA Change: N310S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: N310S

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 probably null
Transcript: ENSMUST00000134739
AA Change: N277S
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: N277S

DomainStartEndE-ValueType
Pfam:PDEase_I_N 41 101 1.4e-35 PFAM
HDc 184 348 5.19e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000134739
AA Change: N277S
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: N277S

DomainStartEndE-ValueType
Pfam:PDEase_I_N 41 101 1.4e-35 PFAM
HDc 184 348 5.19e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000183775
AA Change: N310S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: N310S

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
Meta Mutation Damage Score 0.5484 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Rbbp8 T G 18: 11,855,171 (GRCm39) D465E probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Pde1a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6242:Pde1a UTSW 2 79,959,136 (GRCm39) missense probably benign
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'- GGCTTTACACATGTGCTAGGG -3'
(R):5'- GTGTGATGACTACTTACTATGGAAACC -3'

Sequencing Primer
(F):5'- AGTTTCTGTCTATCCAGCAGCAGAG -3'
(R):5'- CTATGGAAACCTCAAAGTCTGAAG -3'
Posted On 2016-06-21