Incidental Mutation 'IGL00423:Pde1a'
| ID |
12953 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde1a
|
| Ensembl Gene |
ENSMUSG00000059173 |
| Gene Name |
phosphodiesterase 1A, calmodulin-dependent |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79696014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 443
(L443P)
|
| 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: L339P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: L339P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L375P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: L375P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L375P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: L375P
| Domain | Start | End | E-Value | Type |
|---|
|
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: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: L443P
| 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 damaging
Transcript: ENSMUST00000102654
AA Change: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: L443P
| 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 damaging
Transcript: ENSMUST00000102655
AA Change: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: L443P
| 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 damaging
Transcript: ENSMUST00000134739
AA Change: L410P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: L410P
| 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 damaging
Transcript: ENSMUST00000183775
AA Change: L443P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: L443P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,307,058 (GRCm39) |
I48T |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Pde1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation