Incidental Mutation 'IGL02376:Pde1a'
| ID |
291141 |
| 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 # |
IGL02376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 79705567 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,815,466 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,251,031 (GRCm39) |
E597K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,236,544 (GRCm39) |
V289A |
probably benign |
Het |
| Akr1d1 |
A |
T |
6: 37,507,220 (GRCm39) |
D14V |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,349,524 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,111,506 (GRCm39) |
T1137A |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,845,140 (GRCm39) |
Q77L |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,867,735 (GRCm39) |
T444A |
probably damaging |
Het |
| Arr3 |
A |
C |
X: 99,658,281 (GRCm39) |
K281Q |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,291,623 (GRCm39) |
I114N |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,611,727 (GRCm39) |
F1217Y |
probably damaging |
Het |
| C1qtnf1 |
A |
C |
11: 118,338,894 (GRCm39) |
Y188S |
probably benign |
Het |
| Cbx6 |
C |
A |
15: 79,712,500 (GRCm39) |
R309L |
probably benign |
Het |
| Cfap410 |
A |
G |
10: 77,820,388 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,128,502 (GRCm39) |
S237P |
probably damaging |
Het |
| Dapk1 |
G |
A |
13: 60,844,208 (GRCm39) |
V76I |
probably benign |
Het |
| Elk4 |
T |
A |
1: 131,942,288 (GRCm39) |
N53K |
probably benign |
Het |
| Epha7 |
A |
C |
4: 28,951,287 (GRCm39) |
T799P |
probably damaging |
Het |
| Exosc2 |
G |
A |
2: 31,569,887 (GRCm39) |
V233M |
possibly damaging |
Het |
| Fam217b |
A |
G |
2: 178,059,366 (GRCm39) |
D3G |
probably benign |
Het |
| Farp1 |
T |
A |
14: 121,510,268 (GRCm39) |
N755K |
probably damaging |
Het |
| Fer |
A |
G |
17: 64,241,341 (GRCm39) |
E327G |
possibly damaging |
Het |
| Fmnl3 |
A |
T |
15: 99,216,844 (GRCm39) |
F1017Y |
possibly damaging |
Het |
| Gabbr2 |
A |
C |
4: 46,684,300 (GRCm39) |
I658S |
probably damaging |
Het |
| Gemin2 |
A |
G |
12: 59,068,506 (GRCm39) |
D195G |
probably benign |
Het |
| Gtf3c1 |
T |
A |
7: 125,268,168 (GRCm39) |
Y875F |
probably benign |
Het |
| Hnrnpr |
G |
A |
4: 136,046,766 (GRCm39) |
G149D |
probably damaging |
Het |
| Krt74 |
A |
C |
15: 101,662,938 (GRCm39) |
|
noncoding transcript |
Het |
| Ltf |
A |
G |
9: 110,858,692 (GRCm39) |
D480G |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,572,103 (GRCm39) |
L206P |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,831,752 (GRCm39) |
M429V |
probably benign |
Het |
| Myh4 |
C |
A |
11: 67,136,554 (GRCm39) |
T444N |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,379,658 (GRCm39) |
Y315F |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,350,447 (GRCm39) |
I646T |
probably damaging |
Het |
| Ndufv1 |
T |
C |
19: 4,057,823 (GRCm39) |
|
probably null |
Het |
| Ogdhl |
T |
C |
14: 32,065,275 (GRCm39) |
Y710H |
probably damaging |
Het |
| Or4c52 |
A |
G |
2: 89,845,804 (GRCm39) |
I177V |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,354 (GRCm39) |
K531R |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,108,929 (GRCm39) |
Y243C |
probably damaging |
Het |
| Pik3cb |
C |
T |
9: 98,934,405 (GRCm39) |
M813I |
probably benign |
Het |
| Prss42 |
A |
T |
9: 110,632,175 (GRCm39) |
D302V |
possibly damaging |
Het |
| Rad52 |
T |
C |
6: 119,892,191 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,285,789 (GRCm39) |
Y393* |
probably null |
Het |
| Rhbdd3 |
T |
C |
11: 5,053,192 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
C |
T |
7: 110,062,163 (GRCm39) |
G138D |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,060 (GRCm39) |
|
probably null |
Het |
| Smg9 |
A |
G |
7: 24,114,455 (GRCm39) |
I265V |
probably benign |
Het |
| Sppl2b |
G |
T |
10: 80,703,432 (GRCm39) |
E565* |
probably null |
Het |
| Stx6 |
T |
A |
1: 155,077,725 (GRCm39) |
V244D |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,571,768 (GRCm39) |
N78D |
probably damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,414,429 (GRCm39) |
I44V |
possibly damaging |
Het |
| Tnnt3 |
C |
T |
7: 142,066,295 (GRCm39) |
T220I |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,557,811 (GRCm39) |
D29798E |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,799,981 (GRCm39) |
M281L |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,464,514 (GRCm39) |
K586R |
possibly damaging |
Het |
| Zfta |
C |
T |
19: 7,399,741 (GRCm39) |
P496L |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation