Incidental Mutation 'R6016:Pde1a'
ID |
478587 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde1a
|
Ensembl Gene |
ENSMUSG00000059173 |
Gene Name |
phosphodiesterase 1A, calmodulin-dependent |
Synonyms |
|
MMRRC Submission |
043255-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6016 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79695406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 446
(R446G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099711
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090756]
[ENSMUST00000102651]
[ENSMUST00000102652]
[ENSMUST00000102653]
[ENSMUST00000102654]
[ENSMUST00000102655]
[ENSMUST00000183775]
|
AlphaFold |
Q61481 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090756
AA Change: R410G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000088260 Gene: ENSMUSG00000059173 AA Change: R410G
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
AA Change: R446G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000099711 Gene: ENSMUSG00000059173 AA Change: R446G
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
AA Change: R446G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000099712 Gene: ENSMUSG00000059173 AA Change: R446G
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
AA Change: R514G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099713 Gene: ENSMUSG00000059173 AA Change: R514G
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
AA Change: R514G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099714 Gene: ENSMUSG00000059173 AA Change: R514G
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
AA Change: R514G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000099715 Gene: ENSMUSG00000059173 AA Change: R514G
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 |
unknown
Transcript: ENSMUST00000134739
AA Change: R467G
|
SMART Domains |
Protein: ENSMUSP00000120188 Gene: ENSMUSG00000059173 AA Change: R467G
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
AA Change: R514G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139327 Gene: ENSMUSG00000059173 AA Change: R514G
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: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
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 |
|
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'- ACACATCTGCAGCTCAAGTG -3'
(R):5'- CGTTGTCAATGGTAGCTCGTCC -3'
Sequencing Primer
(F):5'- TCTTAGCTAGCAATGGGACCAACTG -3'
(R):5'- AATGGTAGCTCGTCCACCATG -3'
|
Posted On |
2017-06-26 |