Incidental Mutation 'R6248:Pde1a'
ID 505575
Institutional Source Beutler Lab
Gene Symbol Pde1a
Ensembl Gene ENSMUSG00000059173
Gene Name phosphodiesterase 1A, calmodulin-dependent
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6248 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 79664797-79959802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79708545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 291 (H291R)
Ref Sequence ENSEMBL: ENSMUSP00000139327 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090756] [ENSMUST00000102651] [ENSMUST00000102652] [ENSMUST00000102653] [ENSMUST00000102654] [ENSMUST00000102655] [ENSMUST00000183775]
AlphaFold Q61481
Predicted Effect probably damaging
Transcript: ENSMUST00000090756
AA Change: H187R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: H187R

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 damaging
Transcript: ENSMUST00000102651
AA Change: H223R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: H223R

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 damaging
Transcript: ENSMUST00000102652
AA Change: H223R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: H223R

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 damaging
Transcript: ENSMUST00000102653
AA Change: H291R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: H291R

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 damaging
Transcript: ENSMUST00000102654
AA Change: H291R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: H291R

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 damaging
Transcript: ENSMUST00000102655
AA Change: H291R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: H291R

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 damaging
Transcript: ENSMUST00000183775
AA Change: H291R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: H291R

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 unknown
Transcript: ENSMUST00000134739
AA Change: H258R
SMART Domains Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: H258R

DomainStartEndE-ValueType
Pfam:PDEase_I_N 41 101 1.4e-35 PFAM
HDc 184 348 5.19e-7 SMART
Meta Mutation Damage Score 0.9387 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 100% (92/92)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 159,902,978 (GRCm39) S83P possibly damaging Het
Actr10 A T 12: 70,999,733 (GRCm39) E176D probably benign Het
Adcy3 G A 12: 4,258,662 (GRCm39) probably null Het
AI429214 T A 8: 37,461,278 (GRCm39) I142N probably damaging Het
Alox12 A G 11: 70,143,936 (GRCm39) L148S probably damaging Het
Ank3 A G 10: 69,809,680 (GRCm39) I1147V probably benign Het
Apoc2 C T 7: 19,407,493 (GRCm39) V12I probably benign Het
Arap3 T C 18: 38,124,407 (GRCm39) S311G probably benign Het
Arih2 G T 9: 108,488,841 (GRCm39) H292Q probably damaging Het
Cdc14a A T 3: 116,101,843 (GRCm39) D312E probably benign Het
Cdh12 T G 15: 21,237,800 (GRCm39) W12G possibly damaging Het
Cisd2 A T 3: 135,114,616 (GRCm39) N118K probably damaging Het
Cntnap5b A G 1: 99,999,827 (GRCm39) Q195R probably benign Het
Cyp2r1 A G 7: 114,161,966 (GRCm39) probably null Het
Cyp4f37 A G 17: 32,848,864 (GRCm39) D244G possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dido1 T A 2: 180,302,048 (GRCm39) H1952L probably damaging Het
Dnah10 T A 5: 124,871,283 (GRCm39) probably null Het
Dnal4 T A 15: 79,646,714 (GRCm39) M56L probably damaging Het
Emilin2 A G 17: 71,581,112 (GRCm39) V538A probably benign Het
Eps8l2 A G 7: 140,922,015 (GRCm39) D31G probably damaging Het
Erp44 A T 4: 48,219,479 (GRCm39) L112* probably null Het
Etl4 C T 2: 20,813,900 (GRCm39) T1907I possibly damaging Het
Exoc3 A G 13: 74,330,400 (GRCm39) F510L probably benign Het
Fam114a2 G T 11: 57,383,942 (GRCm39) T324K possibly damaging Het
Fer1l4 G A 2: 155,888,091 (GRCm39) R465C probably damaging Het
Frmd4b A C 6: 97,436,173 (GRCm39) S2R probably benign Het
Fscn1 A T 5: 142,946,778 (GRCm39) D192V possibly damaging Het
Gm3486 T A 14: 41,206,472 (GRCm39) *200C probably null Het
Gusb A T 5: 130,029,366 (GRCm39) H138Q probably benign Het
Hdac9 A T 12: 34,578,293 (GRCm39) M4K possibly damaging Het
Hhipl1 G T 12: 108,284,964 (GRCm39) R439L probably benign Het
Hoxd9 A G 2: 74,528,980 (GRCm39) E194G probably benign Het
Itgb1 A G 8: 129,448,902 (GRCm39) S503G possibly damaging Het
Kcnt2 T A 1: 140,437,216 (GRCm39) C500S probably damaging Het
Kdm7a G A 6: 39,123,983 (GRCm39) S727L possibly damaging Het
Klhdc4 A G 8: 122,540,507 (GRCm39) F92L probably damaging Het
Klrb1a A G 6: 128,596,137 (GRCm39) V62A probably damaging Het
Krit1 A G 5: 3,863,032 (GRCm39) probably null Het
Krt40 A G 11: 99,432,566 (GRCm39) I150T possibly damaging Het
Larp4b A G 13: 9,208,738 (GRCm39) T464A probably benign Het
Lrrc52 T G 1: 167,293,964 (GRCm39) D107A probably damaging Het
Mapkap1 G T 2: 34,408,692 (GRCm39) V35F probably damaging Het
Mccc1 A G 3: 36,044,313 (GRCm39) V171A probably damaging Het
Metap1d A T 2: 71,346,104 (GRCm39) R222* probably null Het
Mrgpre G A 7: 143,334,603 (GRCm39) A300V probably benign Het
Mterf1b C A 5: 4,246,606 (GRCm39) N82K probably benign Het
Myh9 C T 15: 77,669,422 (GRCm39) W533* probably null Het
Myom2 A G 8: 15,148,472 (GRCm39) probably null Het
Ncor1 G A 11: 62,257,808 (GRCm39) P329S probably damaging Het
Nr2f1 T C 13: 78,344,611 (GRCm39) probably benign Het
Or10x1 T G 1: 174,197,236 (GRCm39) V251G probably benign Het
Or11a4 T A 17: 37,536,451 (GRCm39) L145* probably null Het
Or2a57 C T 6: 43,212,838 (GRCm39) Q99* probably null Het
Or2w6 A T 13: 21,843,244 (GRCm39) I83N possibly damaging Het
Or52p2 T C 7: 102,237,237 (GRCm39) T238A probably benign Het
Or6c210 A G 10: 129,496,532 (GRCm39) I286V probably benign Het
Or6z1 A T 7: 6,504,675 (GRCm39) C183* probably null Het
Pcdha11 T C 18: 37,138,950 (GRCm39) L193P probably benign Het
Pcdhb20 T A 18: 37,639,285 (GRCm39) F604I probably damaging Het
Pfkm G A 15: 98,024,260 (GRCm39) V423M probably damaging Het
Pira1 C A 7: 3,739,337 (GRCm39) E510D probably benign Het
Pkd2l1 G T 19: 44,146,108 (GRCm39) Q149K probably benign Het
Pkhd1l1 T A 15: 44,392,955 (GRCm39) N1763K probably benign Het
Pla2g4a G A 1: 149,748,338 (GRCm39) T282I probably damaging Het
Prpf39 A C 12: 65,089,528 (GRCm39) N89H probably damaging Het
Rad54l2 A G 9: 106,587,537 (GRCm39) F743L probably damaging Het
Raver2 A G 4: 100,991,320 (GRCm39) probably null Het
Ric8b T C 10: 84,783,709 (GRCm39) L189P probably damaging Het
Sccpdh T C 1: 179,495,957 (GRCm39) F13L probably benign Het
Scd2 T C 19: 44,291,448 (GRCm39) F296L probably damaging Het
Scg2 G T 1: 79,414,023 (GRCm39) D233E probably benign Het
Sema5b C A 16: 35,448,377 (GRCm39) probably null Het
Skint5 A T 4: 113,636,286 (GRCm39) V644E unknown Het
Slc44a5 G T 3: 153,969,678 (GRCm39) V612F possibly damaging Het
Snd1 C T 6: 28,520,234 (GRCm39) R107* probably null Het
Sun5 G T 2: 153,702,589 (GRCm39) T189K probably damaging Het
Tap1 A T 17: 34,412,151 (GRCm39) E452V probably damaging Het
Tcam1 A G 11: 106,173,652 (GRCm39) N32S probably benign Het
Tep1 T C 14: 51,067,715 (GRCm39) E2167G probably damaging Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmem175 T C 5: 108,793,821 (GRCm39) V317A probably damaging Het
Tsga13 A G 6: 30,874,139 (GRCm39) V231A probably benign Het
Tspan12 A G 6: 21,799,970 (GRCm39) S126P probably damaging Het
Uvrag G T 7: 98,637,398 (GRCm39) D143E probably damaging Het
Vmn1r230 T A 17: 21,067,036 (GRCm39) M75K possibly damaging Het
Vmn2r120 A T 17: 57,852,287 (GRCm39) F10I probably benign Het
Vmn2r57 T C 7: 41,049,284 (GRCm39) T822A probably benign Het
Vmn2r67 T C 7: 84,799,768 (GRCm39) Y490C probably damaging Het
Zc3h7b T A 15: 81,667,386 (GRCm39) W644R probably damaging Het
Zeb1 A G 18: 5,766,962 (GRCm39) D491G probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp831 A T 2: 174,486,308 (GRCm39) T328S possibly 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
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
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'- CAGCACTTCCTCCAATAGGG -3'
(R):5'- TTGTGAACCTGAGATGGTATACC -3'

Sequencing Primer
(F):5'- TTCCTCCAATAGGGGAAGACCTAG -3'
(R):5'- TACCAATTAAGTCTCTGTCAAACAC -3'
Posted On 2018-02-28