Incidental Mutation 'R6990:Pde1c'
| ID |
543196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde1c
|
| Ensembl Gene |
ENSMUSG00000004347 |
| Gene Name |
phosphodiesterase 1C |
| Synonyms |
|
| MMRRC Submission |
045096-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R6990 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
56046789-56629472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 56419020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glutamine
at position 87
(E87Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000203372]
|
| AlphaFold |
Q64338 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203372
AA Change: E87Q
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: E87Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
142 |
202 |
3.1e-31 |
PFAM |
|
HDc
|
285 |
450 |
5.8e-8 |
SMART |
|
Blast:HDc
|
462 |
741 |
1e-122 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
PHENOTYPE: Olfactory sensory nerves from homozygous null mice have significantly reduced action potentials in response to odor with slower onset kinetics and a faster response termination. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
| Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
| Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
| Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
| Bltp3b |
A |
G |
10: 89,641,979 (GRCm39) |
D1050G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
| Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
| Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
| Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
| Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,468,221 (GRCm39) |
S339P |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,749,944 (GRCm39) |
I46V |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
| Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,844,067 (GRCm39) |
K568N |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
| Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
| Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
| Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
| Tbc1d5 |
A |
T |
17: 51,275,260 (GRCm39) |
N78K |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
| Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
| Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
| Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
| Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
| Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
| Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,557 (GRCm39) |
K160E |
probably benign |
Het |
| Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
probably benign |
Het |
|
| Other mutations in Pde1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Pde1c
|
APN |
6 |
56,150,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02316:Pde1c
|
APN |
6 |
56,128,336 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02751:Pde1c
|
APN |
6 |
56,158,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Pde1c
|
APN |
6 |
56,150,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Pde1c
|
APN |
6 |
56,135,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03357:Pde1c
|
APN |
6 |
56,157,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Pde1c
|
UTSW |
6 |
56,151,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0717:Pde1c
|
UTSW |
6 |
56,099,997 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0973:Pde1c
|
UTSW |
6 |
56,338,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1344:Pde1c
|
UTSW |
6 |
56,338,752 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1521:Pde1c
|
UTSW |
6 |
56,150,592 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1818:Pde1c
|
UTSW |
6 |
56,103,877 (GRCm39) |
nonsense |
probably null |
|
|
R2004:Pde1c
|
UTSW |
6 |
56,135,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2026:Pde1c
|
UTSW |
6 |
56,157,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Pde1c
|
UTSW |
6 |
56,049,263 (GRCm39) |
missense |
probably null |
0.02 |
|
R4729:Pde1c
|
UTSW |
6 |
56,049,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Pde1c
|
UTSW |
6 |
56,100,019 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4993:Pde1c
|
UTSW |
6 |
56,127,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5666:Pde1c
|
UTSW |
6 |
56,103,842 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6005:Pde1c
|
UTSW |
6 |
56,456,187 (GRCm39) |
splice site |
probably null |
|
|
R6636:Pde1c
|
UTSW |
6 |
56,157,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Pde1c
|
UTSW |
6 |
56,158,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Pde1c
|
UTSW |
6 |
56,127,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7622:Pde1c
|
UTSW |
6 |
56,103,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Pde1c
|
UTSW |
6 |
56,114,404 (GRCm39) |
missense |
probably benign |
|
|
R8416:Pde1c
|
UTSW |
6 |
56,128,276 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8898:Pde1c
|
UTSW |
6 |
56,114,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8904:Pde1c
|
UTSW |
6 |
56,156,128 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9280:Pde1c
|
UTSW |
6 |
56,114,505 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9405:Pde1c
|
UTSW |
6 |
56,049,199 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAAAGTTACATGGGAGTCC -3'
(R):5'- TGCCTTGCATATCCTGGGTG -3'
Sequencing Primer
(F):5'- TGGGAGTCCAGTTAGTATTAATTCC -3'
(R):5'- CATATCCTGGGTGGGGATGAAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation