Incidental Mutation 'R6858:Pde1a'
ID |
535355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde1a
|
Ensembl Gene |
ENSMUSG00000059173 |
Gene Name |
phosphodiesterase 1A, calmodulin-dependent |
Synonyms |
|
MMRRC Submission |
044960-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6858 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 79959502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139327
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102653]
[ENSMUST00000102654]
[ENSMUST00000102655]
[ENSMUST00000183775]
|
AlphaFold |
Q61481 |
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: 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
96% (49/51) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldob |
T |
C |
4: 49,538,796 (GRCm39) |
T241A |
probably benign |
Het |
Arid4a |
A |
G |
12: 71,070,283 (GRCm39) |
I65V |
probably benign |
Het |
Bhmt2 |
C |
T |
13: 93,807,948 (GRCm39) |
E47K |
probably damaging |
Het |
Bpifa3 |
G |
A |
2: 153,979,514 (GRCm39) |
G213D |
probably benign |
Het |
C4b |
C |
G |
17: 34,948,805 (GRCm39) |
A1548P |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,874,017 (GRCm39) |
V605A |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,420,195 (GRCm39) |
|
probably null |
Het |
Cntrl |
T |
C |
2: 35,052,107 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,385,144 (GRCm39) |
D87G |
probably damaging |
Het |
Crim1 |
A |
T |
17: 78,623,056 (GRCm39) |
E418V |
probably damaging |
Het |
Crtac1 |
T |
C |
19: 42,307,174 (GRCm39) |
I196M |
possibly damaging |
Het |
Crtap |
T |
C |
9: 114,209,084 (GRCm39) |
Y320C |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,448,452 (GRCm39) |
V27A |
probably damaging |
Het |
Cyp2c69 |
G |
A |
19: 39,866,009 (GRCm39) |
L195F |
probably benign |
Het |
Cyp2d26 |
G |
A |
15: 82,678,284 (GRCm39) |
R31C |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fign |
G |
T |
2: 63,810,157 (GRCm39) |
T371K |
probably benign |
Het |
Fryl |
T |
C |
5: 73,222,375 (GRCm39) |
T2069A |
probably damaging |
Het |
Gm3486 |
A |
G |
14: 41,210,322 (GRCm39) |
I53T |
probably damaging |
Het |
Gprc5d |
T |
C |
6: 135,093,313 (GRCm39) |
N198S |
possibly damaging |
Het |
Ighv1-42 |
A |
G |
12: 114,900,966 (GRCm39) |
S40P |
probably damaging |
Het |
Itga8 |
A |
G |
2: 12,204,892 (GRCm39) |
V515A |
probably benign |
Het |
Kidins220 |
A |
T |
12: 25,058,542 (GRCm39) |
I523L |
possibly damaging |
Het |
Lmx1a |
A |
T |
1: 167,660,450 (GRCm39) |
N245I |
probably damaging |
Het |
Med22 |
T |
C |
2: 26,795,949 (GRCm39) |
D157G |
possibly damaging |
Het |
Ola1 |
T |
C |
2: 72,927,574 (GRCm39) |
H335R |
probably damaging |
Het |
Or1a1 |
A |
T |
11: 74,086,925 (GRCm39) |
M199L |
probably benign |
Het |
Or4c12 |
A |
G |
2: 89,774,087 (GRCm39) |
I124T |
probably damaging |
Het |
Or6c213 |
A |
G |
10: 129,574,333 (GRCm39) |
F151S |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,765 (GRCm39) |
I214T |
probably damaging |
Het |
Or8h9 |
A |
G |
2: 86,789,034 (GRCm39) |
I256T |
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,198,219 (GRCm39) |
G304D |
probably benign |
Het |
Potegl |
T |
C |
2: 23,102,676 (GRCm39) |
V138A |
possibly damaging |
Het |
Prune2 |
T |
A |
19: 17,095,470 (GRCm39) |
C325S |
possibly damaging |
Het |
Ptk2b |
T |
C |
14: 66,450,847 (GRCm39) |
I40V |
probably damaging |
Het |
Qrich1 |
A |
G |
9: 108,411,333 (GRCm39) |
D286G |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,321,156 (GRCm39) |
I1469V |
probably benign |
Het |
Serpina3k |
G |
A |
12: 104,311,504 (GRCm39) |
A361T |
possibly damaging |
Het |
Slc25a23 |
A |
G |
17: 57,365,171 (GRCm39) |
Y73H |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,363,924 (GRCm39) |
D82G |
probably damaging |
Het |
Trbv28 |
G |
T |
6: 41,248,624 (GRCm39) |
M51I |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,165,828 (GRCm39) |
H204L |
possibly damaging |
Het |
Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
Vmn1r25 |
T |
C |
6: 57,955,996 (GRCm39) |
S98G |
probably benign |
Het |
Vmn2r2 |
A |
G |
3: 64,044,915 (GRCm39) |
F77S |
probably damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,686,580 (GRCm39) |
M654L |
probably benign |
Het |
Zfp985 |
A |
T |
4: 147,667,764 (GRCm39) |
K211* |
probably null |
Het |
Zwilch |
C |
T |
9: 64,060,869 (GRCm39) |
D328N |
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 |
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 |
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'- TCCAAACAGTTCAGGGACG -3'
(R):5'- ACTTTCTTCCCAGGGTGGTG -3'
Sequencing Primer
(F):5'- TTCAGGGACGCAAAGCC -3'
(R):5'- CCAGGGTGGTGCTGCTG -3'
|
Posted On |
2018-09-12 |