Incidental Mutation 'R1855:Pde1a'
ID 206005
Institutional Source Beutler Lab
Gene Symbol Pde1a
Ensembl Gene ENSMUSG00000059173
Gene Name phosphodiesterase 1A, calmodulin-dependent
Synonyms
MMRRC Submission 039879-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1855 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 79664797-79959802 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79728408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000090756] [ENSMUST00000102651] [ENSMUST00000102652] [ENSMUST00000102653] [ENSMUST00000102654] [ENSMUST00000102655] [ENSMUST00000183775]
AlphaFold Q61481
Predicted Effect probably null
Transcript: ENSMUST00000090756
SMART Domains Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173

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
SMART Domains Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173

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 0.9483 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (72/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,818,195 (GRCm39) L285Q probably damaging Het
Acaca T C 11: 84,262,380 (GRCm39) L1994P probably damaging Het
Adamts9 A G 6: 92,878,350 (GRCm39) probably benign Het
Aff3 T C 1: 38,249,385 (GRCm39) E574G probably benign Het
Ankrd1 T C 19: 36,096,635 (GRCm39) K64R probably damaging Het
Arhgap23 T C 11: 97,339,523 (GRCm39) I163T probably damaging Het
Ascc3 A T 10: 50,494,018 (GRCm39) Q151L probably benign Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
C1s1 A C 6: 124,511,315 (GRCm39) probably null Het
Ccdc150 T C 1: 54,407,069 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,351 (GRCm39) I311N probably damaging Het
Chad T A 11: 94,456,303 (GRCm39) L127H probably damaging Het
Clasp1 G A 1: 118,436,624 (GRCm39) A303T probably damaging Het
Clptm1 A G 7: 19,372,134 (GRCm39) V234A probably benign Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Csnk1a1 T A 18: 61,708,498 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,378,412 (GRCm39) I1475L probably benign Het
Dnah5 T C 15: 28,411,815 (GRCm39) V3728A possibly damaging Het
Dock9 C A 14: 121,877,571 (GRCm39) V391F probably damaging Het
Ehmt2 A T 17: 35,129,752 (GRCm39) I949F probably damaging Het
Eif4g1 C A 16: 20,505,911 (GRCm39) T1025K possibly damaging Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Esrrg A T 1: 187,943,295 (GRCm39) M423L probably damaging Het
Etnppl A T 3: 130,414,371 (GRCm39) I89F probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbln7 A G 2: 128,735,755 (GRCm39) T248A possibly damaging Het
Galnt9 C T 5: 110,763,390 (GRCm39) T465M probably damaging Het
Grcc10 A G 6: 124,717,541 (GRCm39) V57A probably benign Het
Herc1 T A 9: 66,298,708 (GRCm39) M614K possibly damaging Het
Itch C T 2: 155,014,374 (GRCm39) probably benign Het
Kdm6b C A 11: 69,298,112 (GRCm39) A167S probably damaging Het
Kidins220 C T 12: 25,106,590 (GRCm39) R1348C probably damaging Het
Kif17 T C 4: 138,015,582 (GRCm39) L577P probably benign Het
Krt25 A T 11: 99,209,141 (GRCm39) L258Q probably damaging Het
Marchf10 T C 11: 105,281,218 (GRCm39) T356A probably benign Het
Mical2 G A 7: 111,944,489 (GRCm39) A940T probably benign Het
Mrpl4 A G 9: 20,914,667 (GRCm39) E81G possibly damaging Het
Mtcl1 A G 17: 66,686,509 (GRCm39) V447A probably benign Het
Mtor C A 4: 148,637,546 (GRCm39) N2502K probably benign Het
Notch4 G A 17: 34,799,936 (GRCm39) D966N probably benign Het
Oip5 C A 2: 119,442,271 (GRCm39) K214N probably benign Het
Or8a1b A T 9: 37,623,266 (GRCm39) F103Y possibly damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pak5 A T 2: 135,929,429 (GRCm39) S585T probably benign Het
Pard3 T A 8: 128,174,293 (GRCm39) probably null Het
Pcnx2 A T 8: 126,534,735 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,492,556 (GRCm39) Y939C possibly damaging Het
Pde9a C T 17: 31,674,094 (GRCm39) P60S probably damaging Het
Pikfyve C A 1: 65,297,957 (GRCm39) T1562K probably benign Het
Plekhg6 A T 6: 125,352,802 (GRCm39) M115K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Ppp1r3a A T 6: 14,754,993 (GRCm39) W85R probably damaging Het
Rnf123 C A 9: 107,938,990 (GRCm39) R826L probably damaging Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc22a2 A G 17: 12,805,699 (GRCm39) D150G probably damaging Het
Snap47 C T 11: 59,319,159 (GRCm39) probably benign Het
Spata22 A G 11: 73,231,385 (GRCm39) D213G probably benign Het
St6galnac2 T A 11: 116,581,141 (GRCm39) R60S probably benign Het
Stk32c A G 7: 138,701,363 (GRCm39) F263S probably damaging Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tex2 T C 11: 106,437,702 (GRCm39) E158G possibly damaging Het
Tiam2 C T 17: 3,465,410 (GRCm39) R380C probably damaging Het
Trim25 C T 11: 88,906,407 (GRCm39) T410I probably benign Het
Usp18 T A 6: 121,239,076 (GRCm39) C212S probably benign Het
Vmn1r2 A G 4: 3,172,588 (GRCm39) Y169C probably damaging Het
Wdr33 A T 18: 32,039,909 (GRCm39) probably benign Het
Xpr1 A G 1: 155,159,002 (GRCm39) Y597H probably benign Het
Yy1 CGGG CGGGGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zfp54 T A 17: 21,654,404 (GRCm39) Y299* probably null Het
Zfp566 T G 7: 29,777,927 (GRCm39) S85R probably benign 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
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
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'- TCCTGCTAGTCTTCTACGAGTG -3'
(R):5'- CAGTTGCGAGTTCCATGTTG -3'

Sequencing Primer
(F):5'- CTAGTCTTCTACGAGTGAGCAGCAG -3'
(R):5'- AATCAGTTTCTGTGAAAAGCAGCAC -3'
Posted On 2014-06-23