Incidental Mutation 'R8686:Pde1a'
| ID |
662021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde1a
|
| Ensembl Gene |
ENSMUSG00000059173 |
| Gene Name |
phosphodiesterase 1A, calmodulin-dependent |
| Synonyms |
|
| MMRRC Submission |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79834453-80129458 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79927742 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 50
(V50I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102653]
[ENSMUST00000102654]
[ENSMUST00000102655]
[ENSMUST00000183775]
|
| AlphaFold |
Q61481 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102653
AA Change: V50I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: V50I
| Domain | Start | End | E-Value | Type |
|---|
|
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: V50I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: V50I
| Domain | Start | End | E-Value | Type |
|---|
|
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: V50I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: V50I
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000134739
AA Change: V17I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: V17I
| Domain | Start | End | E-Value | Type |
|---|
|
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: V50I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: V50I
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.0975 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1300017J02Rik |
C |
T |
9: 103,259,428 (GRCm38) |
A525T |
probably benign |
Het |
| Adam25 |
A |
G |
8: 40,755,484 (GRCm38) |
T596A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,313,699 (GRCm38) |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,743,801 (GRCm38) |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,988,128 (GRCm38) |
R939H |
probably damaging |
Het |
| Ccdc114 |
A |
G |
7: 45,947,692 (GRCm38) |
T456A |
probably benign |
Het |
| Cd22 |
G |
A |
7: 30,870,069 (GRCm38) |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,659,604 (GRCm38) |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,095,380 (GRCm38) |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,421,987 (GRCm38) |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm38) |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,733,093 (GRCm38) |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,170,805 (GRCm38) |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,286,683 (GRCm38) |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,000,886 (GRCm38) |
D26E |
probably damaging |
Het |
| Emilin1 |
A |
T |
5: 30,917,696 (GRCm38) |
K427M |
possibly damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,234 (GRCm38) |
L56S |
probably benign |
Het |
| Fbxo18 |
C |
T |
2: 11,755,658 (GRCm38) |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,379,023 (GRCm38) |
T644I |
probably benign |
Het |
| G6pc |
T |
G |
11: 101,374,707 (GRCm38) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,836,687 (GRCm38) |
S1245P |
probably benign |
Het |
| Gm10696 |
T |
C |
3: 94,176,120 (GRCm38) |
D128G |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,359,406 (GRCm38) |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,980,904 (GRCm38) |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,215 (GRCm38) |
|
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,761,450 (GRCm38) |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,360,935 (GRCm38) |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,981,853 (GRCm38) |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,732,781 (GRCm38) |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,994,073 (GRCm38) |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,541,717 (GRCm38) |
T327M |
probably damaging |
Het |
| Mettl7b |
A |
T |
10: 128,960,607 (GRCm38) |
M111K |
possibly damaging |
Het |
| Myo9b |
G |
T |
8: 71,334,322 (GRCm38) |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,369,771 (GRCm38) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,368,843 (GRCm38) |
T202A |
possibly damaging |
Het |
| Olfr128 |
T |
C |
17: 37,924,277 (GRCm38) |
V237A |
probably benign |
Het |
| Olfr710 |
A |
C |
7: 106,944,698 (GRCm38) |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,117,922 (GRCm38) |
S80T |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,997,522 (GRCm38) |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,866,215 (GRCm38) |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,658,529 (GRCm38) |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,311,993 (GRCm38) |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,244,691 (GRCm38) |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,335,663 (GRCm38) |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,829,426 (GRCm38) |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,822,841 (GRCm38) |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,576,811 (GRCm38) |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,733,574 (GRCm38) |
I418N |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,355,606 (GRCm38) |
V420A |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,415,693 (GRCm38) |
N174I |
probably damaging |
Het |
| Speer4e |
T |
C |
5: 14,934,115 (GRCm38) |
N229S |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 21,152,935 (GRCm38) |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,552,006 (GRCm38) |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,108,284 (GRCm38) |
N191S |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,612,268 (GRCm38) |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,872,691 (GRCm38) |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,389 (GRCm38) |
S3823R |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,367,847 (GRCm38) |
D163V |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 117,381,359 (GRCm38) |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,845,644 (GRCm38) |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,886,069 (GRCm38) |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,287,453 (GRCm38) |
N264D |
probably benign |
Het |
|
| Other mutations in Pde1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00423:Pde1a
|
APN |
2 |
79,865,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01860:Pde1a
|
APN |
2 |
79,875,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02059:Pde1a
|
APN |
2 |
79,897,077 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02307:Pde1a
|
APN |
2 |
79,906,068 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
IGL02376:Pde1a
|
APN |
2 |
79,875,223 (GRCm38) |
splice site |
probably benign |
|
|
IGL02569:Pde1a
|
APN |
2 |
79,868,258 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL03038:Pde1a
|
APN |
2 |
79,887,946 (GRCm38) |
splice site |
probably benign |
|
|
G5030:Pde1a
|
UTSW |
2 |
79,887,836 (GRCm38) |
splice site |
probably benign |
|
|
R0099:Pde1a
|
UTSW |
2 |
79,868,313 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0549:Pde1a
|
UTSW |
2 |
79,865,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0960:Pde1a
|
UTSW |
2 |
79,865,034 (GRCm38) |
splice site |
probably benign |
|
|
R1855:Pde1a
|
UTSW |
2 |
79,898,064 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1907:Pde1a
|
UTSW |
2 |
79,868,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1972:Pde1a
|
UTSW |
2 |
79,865,721 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2262:Pde1a
|
UTSW |
2 |
80,128,931 (GRCm38) |
start gained |
probably benign |
|
|
R4658:Pde1a
|
UTSW |
2 |
79,898,181 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4674:Pde1a
|
UTSW |
2 |
79,898,181 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R4842:Pde1a
|
UTSW |
2 |
80,128,837 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4878:Pde1a
|
UTSW |
2 |
79,878,139 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5161:Pde1a
|
UTSW |
2 |
79,878,144 (GRCm38) |
missense |
probably null |
1.00 |
|
R5473:Pde1a
|
UTSW |
2 |
79,906,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5940:Pde1a
|
UTSW |
2 |
79,887,839 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5976:Pde1a
|
UTSW |
2 |
79,868,242 (GRCm38) |
nonsense |
probably null |
|
|
R6016:Pde1a
|
UTSW |
2 |
79,865,062 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6242:Pde1a
|
UTSW |
2 |
80,128,792 (GRCm38) |
missense |
probably benign |
|
|
R6248:Pde1a
|
UTSW |
2 |
79,878,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6609:Pde1a
|
UTSW |
2 |
79,906,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6858:Pde1a
|
UTSW |
2 |
80,129,158 (GRCm38) |
unclassified |
probably benign |
|
|
R7161:Pde1a
|
UTSW |
2 |
79,865,214 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8813:Pde1a
|
UTSW |
2 |
80,128,917 (GRCm38) |
start gained |
probably benign |
|
|
R8835:Pde1a
|
UTSW |
2 |
79,878,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9681:Pde1a
|
UTSW |
2 |
79,865,121 (GRCm38) |
missense |
probably benign |
0.31 |
|
X0025:Pde1a
|
UTSW |
2 |
79,838,930 (GRCm38) |
makesense |
probably null |
|
|
Z1176:Pde1a
|
UTSW |
2 |
79,906,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGTTTAAGCCTACATAAGTCTTG -3'
(R):5'- CATGAATACGGTTATCATGCTGC -3'
Sequencing Primer
(F):5'- TCTAAGAACAGTGAAGATGAAGAAGC -3'
(R):5'- GCAATACTCCTGAGACATGAATATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation