Incidental Mutation 'R6636:Pde1c'
| ID |
525454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde1c
|
| Ensembl Gene |
ENSMUSG00000004347 |
| Gene Name |
phosphodiesterase 1C |
| Synonyms |
|
| MMRRC Submission |
044757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R6636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
56046789-56629472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 56157087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 191
(V191G)
|
| 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: V131G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: V131G
| 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: V131G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: V131G
| 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: V122G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: V122G
| 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: V131G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: V131G
| 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: V131G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: V131G
| 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: V103G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: V103G
| 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: V131G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: V131G
| 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: V94G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: V94G
| 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: V191G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: V191G
| 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: ENSMUST00000204821
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (41/42) |
| 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 |
|---|
| Adcy8 |
A |
G |
15: 64,659,251 (GRCm39) |
V513A |
probably damaging |
Het |
| Adgrl4 |
G |
A |
3: 151,223,410 (GRCm39) |
W621* |
probably null |
Het |
| Ap4m1 |
A |
G |
5: 138,170,437 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,026 (GRCm39) |
Y68H |
probably damaging |
Het |
| AY761185 |
T |
A |
8: 21,434,556 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
T |
C |
6: 122,828,013 (GRCm39) |
D68G |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,985,259 (GRCm39) |
I308F |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,552 (GRCm39) |
S112T |
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,845,706 (GRCm39) |
E453D |
probably benign |
Het |
| Fryl |
C |
A |
5: 73,290,655 (GRCm39) |
R83L |
probably benign |
Het |
| Gm4861 |
C |
T |
3: 137,256,760 (GRCm39) |
|
probably null |
Het |
| Gnai1 |
T |
C |
5: 18,478,472 (GRCm39) |
D231G |
probably damaging |
Het |
| Hfe |
C |
G |
13: 23,890,778 (GRCm39) |
E120D |
possibly damaging |
Het |
| Hfe |
T |
C |
13: 23,890,779 (GRCm39) |
E120G |
possibly damaging |
Het |
| Hgd |
A |
G |
16: 37,435,736 (GRCm39) |
N149S |
possibly damaging |
Het |
| Kcnb1 |
T |
C |
2: 166,947,774 (GRCm39) |
D358G |
probably damaging |
Het |
| Lama2 |
C |
A |
10: 27,000,564 (GRCm39) |
V1653L |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,117,721 (GRCm39) |
I947N |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,983 (GRCm39) |
F67L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,922,612 (GRCm39) |
I132V |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,575,255 (GRCm39) |
P1280L |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,372,342 (GRCm39) |
Y2659H |
possibly damaging |
Het |
| Nmbr |
T |
C |
10: 14,645,978 (GRCm39) |
S168P |
probably benign |
Het |
| Nsl1 |
A |
G |
1: 190,807,324 (GRCm39) |
T168A |
probably benign |
Het |
| Or2g7 |
G |
A |
17: 38,378,115 (GRCm39) |
D18N |
probably damaging |
Het |
| Or4a27 |
T |
C |
2: 88,559,185 (GRCm39) |
I253V |
probably benign |
Het |
| Or5b113 |
T |
C |
19: 13,342,589 (GRCm39) |
V199A |
probably benign |
Het |
| Or8s5 |
A |
G |
15: 98,238,831 (GRCm39) |
F13S |
probably benign |
Het |
| Proc |
T |
A |
18: 32,256,813 (GRCm39) |
I285F |
probably benign |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Spa17 |
A |
T |
9: 37,523,270 (GRCm39) |
S6T |
probably benign |
Het |
| Spp1 |
T |
C |
5: 104,588,396 (GRCm39) |
V267A |
possibly damaging |
Het |
| Stk17b |
A |
T |
1: 53,800,247 (GRCm39) |
Y244N |
probably damaging |
Het |
| Tal1 |
A |
G |
4: 114,925,789 (GRCm39) |
N286S |
probably damaging |
Het |
| Tgm7 |
T |
A |
2: 120,931,571 (GRCm39) |
R197S |
probably damaging |
Het |
| Tmcc3 |
T |
A |
10: 94,414,286 (GRCm39) |
V27E |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,578,851 (GRCm39) |
Q587L |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,261,035 (GRCm39) |
A1061V |
probably damaging |
Het |
| Ttll1 |
C |
G |
15: 83,384,147 (GRCm39) |
W160S |
probably damaging |
Het |
| Utp25 |
A |
T |
1: 192,796,075 (GRCm39) |
F197I |
probably damaging |
Het |
| Wnt7a |
A |
G |
6: 91,371,540 (GRCm39) |
Y141H |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTAATGATGCCATGGGG -3'
(R):5'- GACTAACCTTGCCAAAGCGC -3'
Sequencing Primer
(F):5'- TGATGCCATGGGGATTAAAATATCAG -3'
(R):5'- TTGCCAAAGCGCACTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation