Incidental Mutation 'IGL02801:Pde1c'
| ID |
360193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pde1c
|
| Ensembl Gene |
ENSMUSG00000004347 |
| Gene Name |
phosphodiesterase 1C |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
IGL02801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
56046789-56629472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56150651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 289
(N289K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044505]
[ENSMUST00000114327]
[ENSMUST00000164037]
[ENSMUST00000164752]
[ENSMUST00000166102]
[ENSMUST00000166890]
[ENSMUST00000168944]
[ENSMUST00000170774]
[ENSMUST00000203372]
|
| AlphaFold |
Q64338 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044505
AA Change: N229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
82 |
142 |
3.8e-34 |
PFAM |
|
HDc
|
225 |
390 |
1.02e-5 |
SMART |
|
Blast:HDc
|
402 |
681 |
1e-123 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114327
AA Change: N229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
82 |
142 |
4.7e-31 |
PFAM |
|
HDc
|
225 |
390 |
1.02e-5 |
SMART |
|
Blast:HDc
|
402 |
650 |
1e-110 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164037
AA Change: N220K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: N220K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
73 |
133 |
8e-32 |
PFAM |
|
HDc
|
216 |
381 |
1.02e-5 |
SMART |
|
Blast:HDc
|
393 |
618 |
1e-102 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164752
AA Change: N229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
82 |
142 |
3e-28 |
PFAM |
|
HDc
|
225 |
390 |
5.7e-8 |
SMART |
|
Blast:HDc
|
402 |
627 |
1e-101 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166102
AA Change: N229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
82 |
142 |
3e-28 |
PFAM |
|
HDc
|
225 |
390 |
5.7e-8 |
SMART |
|
Blast:HDc
|
402 |
627 |
1e-101 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166890
AA Change: N201K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: N201K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
54 |
114 |
3.5e-31 |
PFAM |
|
HDc
|
197 |
362 |
1.02e-5 |
SMART |
|
Blast:HDc
|
374 |
599 |
1e-102 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168944
AA Change: N229K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: N229K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
82 |
142 |
4.7e-31 |
PFAM |
|
HDc
|
225 |
390 |
1.02e-5 |
SMART |
|
Blast:HDc
|
402 |
650 |
1e-110 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170774
AA Change: N192K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: N192K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I_N
|
45 |
105 |
3.6e-31 |
PFAM |
|
HDc
|
188 |
353 |
1.02e-5 |
SMART |
|
Blast:HDc
|
365 |
613 |
1e-110 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203372
AA Change: N289K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: N289K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198921
|
| Coding Region Coverage |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap5 |
A |
T |
12: 76,375,769 (GRCm39) |
K400N |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,336 (GRCm39) |
I1193F |
probably damaging |
Het |
| Arhgef16 |
A |
T |
4: 154,375,964 (GRCm39) |
L10Q |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,696 (GRCm39) |
V106A |
probably benign |
Het |
| Bmi1 |
T |
C |
2: 18,686,692 (GRCm39) |
Y24H |
probably damaging |
Het |
| Cd163 |
T |
A |
6: 124,297,488 (GRCm39) |
I878K |
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,515,696 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
T |
C |
4: 128,445,868 (GRCm39) |
|
probably null |
Het |
| Dcp2 |
G |
T |
18: 44,550,778 (GRCm39) |
M417I |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,455,028 (GRCm39) |
C662S |
probably benign |
Het |
| Dhx29 |
G |
A |
13: 113,101,180 (GRCm39) |
C1241Y |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,455,010 (GRCm39) |
P37L |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,037,476 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
A |
14: 119,123,067 (GRCm39) |
K643* |
probably null |
Het |
| Ecel1 |
A |
G |
1: 87,079,725 (GRCm39) |
S463P |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,784,104 (GRCm39) |
V1361A |
possibly damaging |
Het |
| Fads2 |
C |
A |
19: 10,060,009 (GRCm39) |
A222S |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,570,278 (GRCm39) |
N1410D |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,144 (GRCm39) |
F199S |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,596 (GRCm39) |
V1637A |
possibly damaging |
Het |
| Gabrg2 |
A |
G |
11: 41,803,220 (GRCm39) |
S442P |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,966 (GRCm39) |
T114A |
possibly damaging |
Het |
| Hoxd8 |
A |
G |
2: 74,536,912 (GRCm39) |
E27G |
probably damaging |
Het |
| Isl2 |
A |
G |
9: 55,452,816 (GRCm39) |
|
probably null |
Het |
| Lamc2 |
T |
A |
1: 153,012,529 (GRCm39) |
H715L |
probably benign |
Het |
| Lrif1 |
T |
C |
3: 106,641,930 (GRCm39) |
V102A |
possibly damaging |
Het |
| Lrrc39 |
A |
G |
3: 116,371,995 (GRCm39) |
N254S |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,883,178 (GRCm39) |
W1346R |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,360,930 (GRCm39) |
I570T |
probably damaging |
Het |
| Mlkl |
G |
A |
8: 112,043,064 (GRCm39) |
T361M |
probably benign |
Het |
| Myo1f |
T |
A |
17: 33,797,111 (GRCm39) |
M94K |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,580,876 (GRCm39) |
C124R |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,574,095 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Pfas |
G |
A |
11: 68,879,103 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
A |
T |
5: 143,862,653 (GRCm39) |
I587F |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,440,755 (GRCm39) |
E721G |
possibly damaging |
Het |
| Ppp2r1b |
A |
G |
9: 50,790,127 (GRCm39) |
I435V |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,376,357 (GRCm39) |
S494N |
probably benign |
Het |
| Ranbp3 |
T |
C |
17: 57,017,766 (GRCm39) |
V474A |
probably benign |
Het |
| Rnf220 |
C |
T |
4: 117,130,448 (GRCm39) |
C259Y |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,076,603 (GRCm39) |
I99V |
probably benign |
Het |
| Slc36a1 |
A |
T |
11: 55,116,879 (GRCm39) |
I303F |
probably benign |
Het |
| Slc4a1 |
C |
T |
11: 102,249,972 (GRCm39) |
|
probably null |
Het |
| Syncrip |
A |
T |
9: 88,361,862 (GRCm39) |
D84E |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,043,657 (GRCm39) |
Y593H |
probably damaging |
Het |
| Tenm2 |
G |
T |
11: 35,937,857 (GRCm39) |
Y1605* |
probably null |
Het |
| Tmem135 |
T |
A |
7: 88,803,333 (GRCm39) |
H280L |
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,955,121 (GRCm39) |
Q211L |
probably benign |
Het |
| Txlna |
T |
C |
4: 129,534,201 (GRCm39) |
D5G |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,098,056 (GRCm39) |
I4V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,055,453 (GRCm39) |
L1539S |
probably damaging |
Het |
| Zdhhc14 |
T |
G |
17: 5,777,094 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R6990:Pde1c
|
UTSW |
6 |
56,419,020 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation