Incidental Mutation 'R0099:Pde1a'
ID |
33133 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde1a
|
Ensembl Gene |
ENSMUSG00000059173 |
Gene Name |
phosphodiesterase 1A, calmodulin-dependent |
Synonyms |
|
MMRRC Submission |
038385-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0099 (G1)
|
Quality Score |
212 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 79698657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090756]
[ENSMUST00000102651]
[ENSMUST00000102652]
[ENSMUST00000102653]
[ENSMUST00000102654]
[ENSMUST00000102655]
[ENSMUST00000183775]
|
AlphaFold |
Q61481 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 |
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
100% (65/65) |
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 |
A930018M24Rik |
C |
T |
14: 51,134,179 (GRCm39) |
|
probably benign |
Het |
Aadacl2fm1 |
A |
C |
3: 59,843,856 (GRCm39) |
K183N |
probably benign |
Het |
Acad10 |
A |
C |
5: 121,759,353 (GRCm39) |
D1043E |
probably damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,591,449 (GRCm39) |
G173R |
probably benign |
Het |
Astn1 |
G |
T |
1: 158,329,721 (GRCm39) |
S192I |
probably damaging |
Het |
Atg2a |
T |
A |
19: 6,302,819 (GRCm39) |
V1010E |
probably damaging |
Het |
Col11a2 |
A |
G |
17: 34,268,648 (GRCm39) |
E311G |
probably damaging |
Het |
Col4a3 |
A |
C |
1: 82,695,714 (GRCm39) |
E1638A |
probably benign |
Het |
Cstf2t |
A |
G |
19: 31,061,231 (GRCm39) |
R256G |
probably benign |
Het |
Cyp4a12a |
T |
C |
4: 115,183,869 (GRCm39) |
L225P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,240,080 (GRCm39) |
R479H |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,673,079 (GRCm39) |
I917V |
probably benign |
Het |
Fam76a |
G |
T |
4: 132,638,098 (GRCm39) |
|
probably benign |
Het |
Fras1 |
T |
A |
5: 96,762,776 (GRCm39) |
|
probably null |
Het |
Gli1 |
A |
G |
10: 127,171,875 (GRCm39) |
V293A |
probably damaging |
Het |
Gm10782 |
T |
A |
13: 56,510,956 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
A |
G |
18: 10,509,158 (GRCm39) |
E490G |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,316,193 (GRCm39) |
G4362R |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,749,778 (GRCm39) |
|
probably benign |
Het |
Ikzf4 |
T |
A |
10: 128,470,066 (GRCm39) |
I485F |
probably damaging |
Het |
Irf5 |
A |
G |
6: 29,533,966 (GRCm39) |
T34A |
probably damaging |
Het |
Krt81 |
A |
T |
15: 101,361,402 (GRCm39) |
C59* |
probably null |
Het |
Kynu |
T |
A |
2: 43,519,065 (GRCm39) |
|
probably null |
Het |
Ly6g6c |
T |
C |
17: 35,287,891 (GRCm39) |
V61A |
probably damaging |
Het |
Manea |
A |
C |
4: 26,328,104 (GRCm39) |
I312M |
probably damaging |
Het |
Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
Mthfs |
A |
T |
9: 89,108,216 (GRCm39) |
|
probably benign |
Het |
Myh4 |
A |
G |
11: 67,150,173 (GRCm39) |
T1877A |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
Nepn |
A |
G |
10: 52,277,181 (GRCm39) |
S306G |
probably damaging |
Het |
Nol8 |
T |
C |
13: 49,826,165 (GRCm39) |
V995A |
probably benign |
Het |
Or5b101 |
A |
G |
19: 13,005,165 (GRCm39) |
F176S |
probably damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,504 (GRCm39) |
T49S |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,750 (GRCm39) |
V275E |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,957 (GRCm39) |
I92V |
possibly damaging |
Het |
Phf14 |
A |
G |
6: 11,987,696 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
C |
T |
17: 84,899,100 (GRCm39) |
Q1026* |
probably null |
Het |
Polr2b |
T |
A |
5: 77,468,797 (GRCm39) |
|
probably benign |
Het |
Ppp1r36 |
G |
T |
12: 76,483,056 (GRCm39) |
|
probably null |
Het |
Prdm14 |
A |
T |
1: 13,189,169 (GRCm39) |
C392S |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,509,686 (GRCm39) |
S436P |
possibly damaging |
Het |
Rfc2 |
A |
T |
5: 134,624,135 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
T |
10: 84,730,168 (GRCm39) |
M437L |
probably benign |
Het |
Rgs17 |
T |
A |
10: 5,792,583 (GRCm39) |
R74S |
probably benign |
Het |
Rnf139 |
C |
A |
15: 58,771,264 (GRCm39) |
L430I |
probably damaging |
Het |
Sgsm1 |
C |
A |
5: 113,422,226 (GRCm39) |
|
probably benign |
Het |
Skint6 |
T |
A |
4: 112,668,698 (GRCm39) |
T1126S |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,573,398 (GRCm39) |
E602G |
probably damaging |
Het |
Stpg2 |
T |
C |
3: 138,948,954 (GRCm39) |
|
probably benign |
Het |
Sycp2l |
T |
C |
13: 41,283,001 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,598,275 (GRCm39) |
N87I |
probably benign |
Het |
Tril |
A |
G |
6: 53,795,348 (GRCm39) |
F625L |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,812,062 (GRCm39) |
V434E |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,313,111 (GRCm39) |
G533R |
probably damaging |
Het |
Utp25 |
A |
G |
1: 192,810,778 (GRCm39) |
L75P |
probably damaging |
Het |
Zfp93 |
G |
T |
7: 23,974,900 (GRCm39) |
R295L |
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 |
IGL03038:Pde1a
|
APN |
2 |
79,718,290 (GRCm39) |
splice site |
probably benign |
|
G5030:Pde1a
|
UTSW |
2 |
79,718,180 (GRCm39) |
splice site |
probably benign |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAAGCCAAAGCTTATCCTGAGTGT -3'
(R):5'- AAGCTTGGTGGTCAATTAATCTCCCAAT -3'
Sequencing Primer
(F):5'- CAAAGCTTATCCTGAGTGTAGAGTG -3'
(R):5'- GTGACTATAGGGTCTTCAGAAAACTG -3'
|
Posted On |
2013-05-09 |