Incidental Mutation 'R4878:Pde1a'
| ID |
375034 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde1a
|
| Ensembl Gene |
ENSMUSG00000059173 |
| Gene Name |
phosphodiesterase 1A, calmodulin-dependent |
| Synonyms |
|
| MMRRC Submission |
042487-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4878 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79664797-79959802 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79708483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 312
(S312T)
|
| 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
AA Change: S208T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000088260
Gene: ENSMUSG00000059173
AA Change: S208T
| 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: S244T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099711
Gene: ENSMUSG00000059173
AA Change: S244T
| 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: S244T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099712
Gene: ENSMUSG00000059173
AA Change: S244T
| 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: S312T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099713
Gene: ENSMUSG00000059173
AA Change: S312T
| 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: S312T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099714
Gene: ENSMUSG00000059173
AA Change: S312T
| 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: S312T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099715
Gene: ENSMUSG00000059173
AA Change: S312T
| 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: S279T
|
| SMART Domains |
Protein: ENSMUSP00000120188
Gene: ENSMUSG00000059173
AA Change: S279T
| 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: S312T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000139327
Gene: ENSMUSG00000059173
AA Change: S312T
| 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 |
0.0686 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
96% (70/73) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
C |
A |
4: 144,340,415 (GRCm39) |
H47N |
possibly damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,714 (GRCm39) |
N159I |
possibly damaging |
Het |
| Agrn |
A |
T |
4: 156,255,302 (GRCm39) |
L1449Q |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,300,274 (GRCm39) |
E694V |
probably damaging |
Het |
| Ccndbp1 |
T |
A |
2: 120,845,172 (GRCm39) |
L363* |
probably null |
Het |
| Cdh16 |
A |
T |
8: 105,344,696 (GRCm39) |
D478E |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,246,252 (GRCm39) |
W735R |
probably benign |
Het |
| Cnnm2 |
C |
T |
19: 46,847,522 (GRCm39) |
P682S |
probably benign |
Het |
| Daam2 |
C |
A |
17: 49,767,738 (GRCm39) |
R951L |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,984,543 (GRCm39) |
F180I |
probably damaging |
Het |
| Dnajc6 |
T |
C |
4: 101,456,231 (GRCm39) |
|
probably benign |
Het |
| Efemp2 |
A |
T |
19: 5,530,789 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,410 (GRCm39) |
D217G |
probably benign |
Het |
| Enpep |
A |
T |
3: 129,070,420 (GRCm39) |
M829K |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 33,931,625 (GRCm39) |
V623A |
probably damaging |
Het |
| Erlin2 |
T |
A |
8: 27,517,194 (GRCm39) |
|
probably null |
Het |
| Fbln2 |
T |
C |
6: 91,233,977 (GRCm39) |
|
probably null |
Het |
| Gga3 |
A |
T |
11: 115,482,147 (GRCm39) |
I157N |
probably damaging |
Het |
| Gtpbp6 |
C |
T |
5: 110,255,177 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,523,234 (GRCm39) |
V584A |
probably benign |
Het |
| Ighv1-50 |
T |
C |
12: 115,083,567 (GRCm39) |
Y51C |
probably benign |
Het |
| Kif13b |
T |
C |
14: 65,043,603 (GRCm39) |
L1801P |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,689,923 (GRCm39) |
I330V |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,505,833 (GRCm39) |
R27W |
probably damaging |
Het |
| Lrif1 |
A |
T |
3: 106,642,956 (GRCm39) |
K169M |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,508,717 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,549,058 (GRCm39) |
D970G |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 120,946,348 (GRCm39) |
M1051K |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,094 (GRCm39) |
N97D |
probably benign |
Het |
| Msh5 |
G |
A |
17: 35,257,432 (GRCm39) |
R321C |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,387,292 (GRCm39) |
Q473R |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,325,004 (GRCm39) |
G970D |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,109,406 (GRCm39) |
Y232C |
probably damaging |
Het |
| Nefh |
A |
G |
11: 4,891,333 (GRCm39) |
S429P |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,366,059 (GRCm39) |
G1014D |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,587,323 (GRCm39) |
C859S |
probably benign |
Het |
| Or1d2 |
T |
C |
11: 74,255,674 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or2n1d |
T |
G |
17: 38,646,518 (GRCm39) |
F157V |
probably benign |
Het |
| Or5m3b |
A |
G |
2: 85,871,799 (GRCm39) |
I47V |
probably benign |
Het |
| Otud7b |
T |
A |
3: 96,043,821 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
G |
T |
5: 128,818,045 (GRCm39) |
R94L |
probably damaging |
Het |
| Pnma2 |
G |
A |
14: 67,154,503 (GRCm39) |
W309* |
probably null |
Het |
| Ppef2 |
A |
C |
5: 92,376,599 (GRCm39) |
|
probably null |
Het |
| Rabac1 |
T |
A |
7: 24,669,392 (GRCm39) |
Q212L |
possibly damaging |
Het |
| Rad51 |
T |
C |
2: 118,950,973 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
A |
T |
5: 3,641,853 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
C |
T |
14: 30,399,761 (GRCm39) |
S315L |
probably benign |
Het |
| Rgs13 |
C |
T |
1: 144,047,217 (GRCm39) |
M1I |
probably null |
Het |
| Rhbg |
A |
C |
3: 88,154,760 (GRCm39) |
S215A |
probably benign |
Het |
| Rufy2 |
A |
T |
10: 62,837,990 (GRCm39) |
N379I |
probably damaging |
Het |
| Slc17a1 |
T |
C |
13: 24,064,637 (GRCm39) |
L367P |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,294,501 (GRCm39) |
R308C |
probably benign |
Het |
| Smo |
A |
G |
6: 29,753,570 (GRCm39) |
T149A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,934 (GRCm39) |
K81E |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,282,899 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,498,448 (GRCm39) |
D572G |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,006,808 (GRCm39) |
M1149K |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,603,502 (GRCm39) |
Q626L |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,544,971 (GRCm39) |
H1643Q |
probably damaging |
Het |
| Wnt3 |
G |
T |
11: 103,699,031 (GRCm39) |
G46C |
possibly damaging |
Het |
| Zkscan7 |
G |
T |
9: 122,719,865 (GRCm39) |
G184* |
probably null |
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 |
|
|
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'- GTTAGTTTCTGTCTATCCAGCAGC -3'
(R):5'- GCAAGGTTTTCAGTGTTCAATAACG -3'
Sequencing Primer
(F):5'- TCTGTCTATCCAGCAGCAGAGATG -3'
(R):5'- CCAGTGTGATGACTACTTACTATGG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation