Incidental Mutation 'IGL02975:Pde1c'
| ID |
406345 |
| 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 # |
IGL02975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
56046789-56629472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56135921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 341
(I341T)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000044505
AA Change: I281T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: I281T
| 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 |
possibly damaging
Transcript: ENSMUST00000114327
AA Change: I281T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: I281T
| 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: I272T
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: I272T
| 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 |
possibly damaging
Transcript: ENSMUST00000164752
AA Change: I281T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: I281T
| 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 |
possibly damaging
Transcript: ENSMUST00000166102
AA Change: I281T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: I281T
| 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: I253T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: I253T
| 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 |
possibly damaging
Transcript: ENSMUST00000168944
AA Change: I281T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: I281T
| 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 |
possibly damaging
Transcript: ENSMUST00000170774
AA Change: I244T
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: I244T
| 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: I341T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: I341T
| 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
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
| Abtb3 |
A |
G |
10: 85,467,207 (GRCm39) |
I721V |
probably benign |
Het |
| Ago4 |
C |
T |
4: 126,406,312 (GRCm39) |
|
probably null |
Het |
| Ank |
A |
G |
15: 27,467,087 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,243,773 (GRCm39) |
S329R |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,550 (GRCm39) |
E608G |
probably damaging |
Het |
| Car1 |
G |
A |
3: 14,842,882 (GRCm39) |
L48F |
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,118 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,390,277 (GRCm39) |
T154S |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,669,530 (GRCm39) |
I340M |
possibly damaging |
Het |
| Cnksr3 |
C |
T |
10: 7,088,354 (GRCm39) |
|
probably null |
Het |
| Cntrob |
T |
C |
11: 69,210,199 (GRCm39) |
T265A |
possibly damaging |
Het |
| Ddx5 |
T |
C |
11: 106,672,711 (GRCm39) |
I605V |
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,489,105 (GRCm39) |
Y70H |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,506,811 (GRCm39) |
|
probably benign |
Het |
| Fah |
A |
T |
7: 84,250,287 (GRCm39) |
S90T |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,161,020 (GRCm39) |
M3237L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,215,760 (GRCm39) |
Y417H |
probably benign |
Het |
| Fmnl2 |
C |
A |
2: 52,991,494 (GRCm39) |
F336L |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,899,153 (GRCm39) |
R847G |
probably damaging |
Het |
| Gm17509 |
T |
C |
13: 117,357,308 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
T |
A |
1: 166,311,449 (GRCm39) |
Y470F |
possibly damaging |
Het |
| Gm7461 |
T |
C |
8: 4,727,847 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
A |
T |
3: 87,961,743 (GRCm39) |
N134I |
possibly damaging |
Het |
| Grina |
A |
G |
15: 76,133,185 (GRCm39) |
Y251C |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,194,666 (GRCm39) |
D654G |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,891,451 (GRCm39) |
T422A |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,858,325 (GRCm39) |
I377N |
probably damaging |
Het |
| Ints3 |
A |
T |
3: 90,309,144 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
G |
A |
17: 56,682,996 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
A |
G |
2: 30,076,687 (GRCm39) |
S276P |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,359,929 (GRCm39) |
C288R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,790,379 (GRCm39) |
M664K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,188,879 (GRCm39) |
I817N |
probably damaging |
Het |
| Nudt6 |
C |
A |
3: 37,473,667 (GRCm39) |
G18V |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,468,062 (GRCm39) |
Q100* |
probably null |
Het |
| Or4k52 |
T |
A |
2: 111,611,266 (GRCm39) |
Y200* |
probably null |
Het |
| Or7a41 |
T |
C |
10: 78,870,867 (GRCm39) |
V79A |
possibly damaging |
Het |
| Pgm5 |
T |
C |
19: 24,812,212 (GRCm39) |
I107V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 55,969,454 (GRCm39) |
|
probably benign |
Het |
| Prkca |
C |
T |
11: 108,231,503 (GRCm39) |
W58* |
probably null |
Het |
| Slc12a9 |
T |
C |
5: 137,320,705 (GRCm39) |
K555R |
probably damaging |
Het |
| Smoc2 |
A |
T |
17: 14,556,872 (GRCm39) |
Q107L |
probably damaging |
Het |
| Sytl1 |
T |
A |
4: 132,988,343 (GRCm39) |
R4S |
probably benign |
Het |
| Tbc1d4 |
A |
G |
14: 101,695,549 (GRCm39) |
L963P |
probably damaging |
Het |
| Tfdp2 |
G |
A |
9: 96,199,989 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,640 (GRCm39) |
M326L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,182 (GRCm39) |
L278P |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,202,398 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zcchc9 |
A |
T |
13: 91,954,172 (GRCm39) |
S28T |
possibly damaging |
Het |
| Zfp12 |
C |
T |
5: 143,229,814 (GRCm39) |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation