Incidental Mutation 'IGL03038:Pde1a'
| ID |
408811 |
| 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 # |
IGL03038
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 79718290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000090756
|
| SMART Domains |
Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
| 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 benign
Transcript: ENSMUST00000102651
|
| SMART Domains |
Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
| 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 benign
Transcript: ENSMUST00000102652
|
| SMART Domains |
Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
| 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 benign
Transcript: ENSMUST00000102653
|
| SMART Domains |
Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
C |
7: 131,030,185 (GRCm39) |
Y111H |
probably damaging |
Het |
| Arhgef6 |
C |
T |
X: 56,290,966 (GRCm39) |
V262I |
probably benign |
Het |
| Arsk |
C |
A |
13: 76,213,632 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,793,680 (GRCm39) |
E303G |
probably benign |
Het |
| Chst9 |
T |
C |
18: 15,628,360 (GRCm39) |
Q55R |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,888,839 (GRCm39) |
D1153E |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,063,602 (GRCm39) |
E681G |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,729,805 (GRCm39) |
E66G |
probably benign |
Het |
| Flii |
T |
C |
11: 60,615,658 (GRCm39) |
T69A |
probably benign |
Het |
| Foxl1 |
A |
C |
8: 121,855,158 (GRCm39) |
E153A |
probably damaging |
Het |
| Gstm3 |
T |
C |
3: 107,873,485 (GRCm39) |
D162G |
possibly damaging |
Het |
| Gtpbp3 |
G |
A |
8: 71,941,947 (GRCm39) |
V96I |
possibly damaging |
Het |
| Insig2 |
G |
A |
1: 121,247,403 (GRCm39) |
T56I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,926,314 (GRCm39) |
L264P |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,552,307 (GRCm39) |
C420G |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,305,808 (GRCm39) |
G2918S |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,629,358 (GRCm39) |
L568P |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Malrd1 |
G |
A |
2: 16,132,778 (GRCm39) |
D1900N |
unknown |
Het |
| Mastl |
C |
A |
2: 23,030,627 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
G |
11: 98,607,010 (GRCm39) |
T276P |
possibly damaging |
Het |
| Naip1 |
A |
C |
13: 100,573,841 (GRCm39) |
Y239* |
probably null |
Het |
| Nhsl2 |
A |
G |
X: 101,122,491 (GRCm39) |
K765E |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,800,588 (GRCm39) |
N4S |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,767,703 (GRCm39) |
D188G |
probably damaging |
Het |
| Or6c88 |
A |
G |
10: 129,406,790 (GRCm39) |
T89A |
probably benign |
Het |
| Pik3cb |
G |
A |
9: 98,947,650 (GRCm39) |
A509V |
probably damaging |
Het |
| Pou2f2 |
C |
T |
7: 24,796,577 (GRCm39) |
S315N |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,571 (GRCm39) |
S906R |
probably damaging |
Het |
| Prkaca |
C |
A |
8: 84,721,580 (GRCm39) |
Q300K |
probably benign |
Het |
| Prox2 |
T |
C |
12: 85,142,038 (GRCm39) |
D55G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,498,465 (GRCm39) |
T3612S |
possibly damaging |
Het |
| S1pr1 |
T |
A |
3: 115,506,343 (GRCm39) |
I84L |
possibly damaging |
Het |
| Slc47a1 |
C |
T |
11: 61,243,918 (GRCm39) |
V384M |
probably benign |
Het |
| Slc6a20b |
T |
C |
9: 123,426,394 (GRCm39) |
N497S |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,265,550 (GRCm39) |
R3L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,042,786 (GRCm39) |
F444S |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,624,035 (GRCm39) |
Y309N |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,581,120 (GRCm39) |
L586P |
possibly damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,185 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pde1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2016-08-02 |
Incidental Mutation