Incidental Mutation 'R5940:Pde1a'
ID 462462
Institutional Source Beutler Lab
Gene Symbol Pde1a
Ensembl Gene ENSMUSG00000059173
Gene Name phosphodiesterase 1A, calmodulin-dependent
Synonyms
MMRRC Submission 044132-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5940 (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 79718183 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 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (88/92)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Aasdh G T 5: 77,030,745 (GRCm39) S618R probably benign Het
Alpk1 T G 3: 127,464,595 (GRCm39) T1228P probably benign Het
Ank3 T C 10: 69,756,316 (GRCm39) V850A probably benign Het
Apeh A T 9: 107,969,098 (GRCm39) probably null Het
Ash1l C T 3: 88,891,343 (GRCm39) T1074I probably damaging Het
C3 G A 17: 57,517,244 (GRCm39) S1297F possibly damaging Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cd93 A T 2: 148,284,152 (GRCm39) I398N probably benign Het
Cdcp3 A T 7: 130,839,992 (GRCm39) D638V probably damaging Het
Chrd G T 16: 20,553,336 (GRCm39) R226L probably null Het
Clvs1 A T 4: 9,449,443 (GRCm39) N344I possibly damaging Het
Cyp4v3 A T 8: 45,774,821 (GRCm39) I111N probably damaging Het
Cysltr2 T A 14: 73,267,389 (GRCm39) Y107F probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Czib A G 4: 107,750,485 (GRCm39) probably benign Het
Defb47 A T 14: 63,238,359 (GRCm39) E28D probably benign Het
Dnajc30 T A 5: 135,093,413 (GRCm39) Y103* probably null Het
Drap1 T C 19: 5,473,028 (GRCm39) T160A probably benign Het
Dsp A G 13: 38,380,002 (GRCm39) E2249G possibly damaging Het
E2f8 T A 7: 48,520,825 (GRCm39) I499F probably benign Het
Ebf1 T A 11: 44,512,048 (GRCm39) Y116N probably damaging Het
Ecrg4 C T 1: 43,776,401 (GRCm39) R41* probably null Het
Ect2 C A 3: 27,169,614 (GRCm39) E746D probably benign Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Fat4 T C 3: 38,943,798 (GRCm39) V897A probably benign Het
Gja3 T A 14: 57,273,317 (GRCm39) S352C probably damaging Het
Gpr153 C A 4: 152,367,832 (GRCm39) P561Q probably benign Het
Hlcs T C 16: 93,935,571 (GRCm39) M574V probably damaging Het
Hmcn1 A G 1: 150,532,973 (GRCm39) V3070A probably benign Het
Hsd3b2 G T 3: 98,619,287 (GRCm39) N219K probably benign Het
Htra3 T C 5: 35,810,324 (GRCm39) I453V possibly damaging Het
Klrc1 A T 6: 129,651,898 (GRCm39) M220K possibly damaging Het
Kntc1 T G 5: 123,924,258 (GRCm39) I1048S probably benign Het
Lrrc37 T C 11: 103,504,712 (GRCm39) S243G probably benign Het
Macf1 T A 4: 123,326,674 (GRCm39) D2822V probably damaging Het
Mcu T A 10: 59,292,554 (GRCm39) I42F possibly damaging Het
Mkln1 T A 6: 31,466,307 (GRCm39) D521E probably damaging Het
Ms4a13 T C 19: 11,170,330 (GRCm39) N5D possibly damaging Het
Msh3 T G 13: 92,386,351 (GRCm39) N838T probably damaging Het
Msl2 T A 9: 100,978,290 (GRCm39) C221* probably null Het
Ncapd2 A G 6: 125,145,832 (GRCm39) S1310P probably benign Het
Ncoa6 A T 2: 155,257,785 (GRCm39) M586K probably damaging Het
Ndel1 C T 11: 68,713,397 (GRCm39) probably benign Het
Ndst4 T C 3: 125,355,068 (GRCm39) probably benign Het
Nes T G 3: 87,883,259 (GRCm39) V506G probably damaging Het
Nrg1 T C 8: 32,339,372 (GRCm39) K200E probably damaging Het
Nt5c1b A G 12: 10,425,515 (GRCm39) K295E probably damaging Het
Or4f54 G A 2: 111,122,729 (GRCm39) V39M possibly damaging Het
Or5b123 T A 19: 13,596,517 (GRCm39) probably null Het
Or6s1 T A 14: 51,308,179 (GRCm39) I224L probably damaging Het
Or8b4 C T 9: 37,830,733 (GRCm39) T260I probably damaging Het
Or8g51 G T 9: 38,609,007 (GRCm39) Y218* probably null Het
Or8k38 A T 2: 86,488,394 (GRCm39) M136K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pds5a A G 5: 65,801,328 (GRCm39) probably benign Het
Plbd1 A T 6: 136,590,719 (GRCm39) probably benign Het
Plod2 T A 9: 92,473,450 (GRCm39) V292E probably benign Het
Polg A G 7: 79,103,819 (GRCm39) V879A possibly damaging Het
Ppargc1a C T 5: 51,631,253 (GRCm39) A459T probably damaging Het
Prorp T A 12: 55,351,659 (GRCm39) W323R probably damaging Het
Psip1 T C 4: 83,394,559 (GRCm39) E83G probably damaging Het
Rhbdf1 T C 11: 32,159,847 (GRCm39) D843G probably benign Het
Rnpepl1 G T 1: 92,845,434 (GRCm39) C451F probably damaging Het
Rrp1 T C 10: 78,241,249 (GRCm39) D206G probably damaging Het
Setbp1 A T 18: 78,798,703 (GRCm39) D1492E probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a6 C T 11: 109,364,022 (GRCm39) probably benign Homo
Slc7a6os A G 8: 106,937,437 (GRCm39) S37P probably damaging Het
Tenm4 T A 7: 96,495,102 (GRCm39) S1140T probably damaging Het
Thoc6 C A 17: 23,889,315 (GRCm39) R115L probably benign Het
Tmem63c C T 12: 87,121,946 (GRCm39) H385Y probably benign Het
Trpm8 G T 1: 88,279,137 (GRCm39) E649* probably null Het
Usf1 A G 1: 171,245,347 (GRCm39) E253G possibly damaging Het
Vps13d T C 4: 144,801,545 (GRCm39) T443A probably benign Het
Wdr86 T C 5: 24,927,660 (GRCm39) Y93C probably damaging Het
Zfp597 A T 16: 3,683,685 (GRCm39) I357N probably damaging Het
Zfp709 A G 8: 72,644,064 (GRCm39) I497V possibly damaging Het
Zxdc T C 6: 90,347,307 (GRCm39) S223P 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
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
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'- AGGCTAAGCTTTGGCAGAG -3'
(R):5'- AACGATGTCCCCATAAAGAGAAATG -3'

Sequencing Primer
(F):5'- CCTACAGACGTCTATGTTCTTTAAG -3'
(R):5'- TGTCCCCATAAAGAGAAATGATGATG -3'
Posted On 2017-02-28