Incidental Mutation 'IGL02751:Pde1c'
| ID |
306285 |
| 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: 0.211)
|
| Stock # |
IGL02751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
56046789-56629472 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56158673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 52
(T52A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044505]
[ENSMUST00000114327]
[ENSMUST00000164037]
[ENSMUST00000164752]
[ENSMUST00000166102]
[ENSMUST00000166890]
[ENSMUST00000168944]
[ENSMUST00000170774]
[ENSMUST00000203372]
|
| AlphaFold |
Q64338 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044505
AA Change: T80A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
AA Change: T80A
| 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 benign
Transcript: ENSMUST00000114327
AA Change: T80A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
AA Change: T80A
| 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 benign
Transcript: ENSMUST00000164037
AA Change: T71A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
AA Change: T71A
| 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 benign
Transcript: ENSMUST00000164752
AA Change: T80A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
AA Change: T80A
| 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 benign
Transcript: ENSMUST00000166102
AA Change: T80A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
AA Change: T80A
| 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: T52A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
AA Change: T52A
| 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 benign
Transcript: ENSMUST00000168944
AA Change: T80A
PolyPhen 2
Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
AA Change: T80A
| 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 benign
Transcript: ENSMUST00000170774
AA Change: T43A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
AA Change: T43A
| 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 benign
Transcript: ENSMUST00000203372
AA Change: T140A
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
AA Change: T140A
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
A |
T |
14: 66,964,981 (GRCm39) |
I324F |
possibly damaging |
Het |
| Ago2 |
G |
A |
15: 73,002,746 (GRCm39) |
A162V |
possibly damaging |
Het |
| Aox4 |
G |
T |
1: 58,298,211 (GRCm39) |
R1059I |
probably damaging |
Het |
| AU021092 |
C |
A |
16: 5,030,483 (GRCm39) |
V304L |
probably damaging |
Het |
| Bcs1l |
T |
G |
1: 74,628,775 (GRCm39) |
F20V |
probably damaging |
Het |
| Braf |
T |
C |
6: 39,637,801 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Ccdc116 |
T |
A |
16: 16,959,836 (GRCm39) |
R284S |
probably benign |
Het |
| Cntnap5a |
T |
G |
1: 116,112,187 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,521,141 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
T |
A |
6: 30,581,739 (GRCm39) |
Y229N |
probably damaging |
Het |
| Fbp1 |
A |
C |
13: 63,022,957 (GRCm39) |
|
probably null |
Het |
| Gimap3 |
A |
T |
6: 48,742,172 (GRCm39) |
W253R |
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,832,393 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,404,093 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,814,482 (GRCm39) |
T338A |
probably benign |
Het |
| Hmg20b |
A |
T |
10: 81,182,385 (GRCm39) |
|
probably benign |
Het |
| Hnrnpdl |
A |
G |
5: 100,185,833 (GRCm39) |
F151L |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,281,821 (GRCm39) |
F141I |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,810,716 (GRCm39) |
F862Y |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,662,138 (GRCm39) |
C313R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,363,806 (GRCm39) |
T344A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,778,251 (GRCm39) |
E2023G |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,931,243 (GRCm39) |
K735N |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,118 (GRCm39) |
T185A |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,306 (GRCm39) |
C70R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,434 (GRCm39) |
K145R |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,019,076 (GRCm39) |
S802P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prep |
T |
A |
10: 44,991,282 (GRCm39) |
I316N |
probably damaging |
Het |
| Prl3d2 |
G |
A |
13: 27,310,014 (GRCm39) |
|
probably null |
Het |
| Pygo1 |
A |
T |
9: 72,852,319 (GRCm39) |
I169F |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,380,725 (GRCm39) |
A716E |
probably benign |
Het |
| Rtn4 |
G |
A |
11: 29,656,409 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,778,199 (GRCm39) |
V2099E |
probably damaging |
Het |
| Slc48a1 |
G |
A |
15: 97,687,961 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,918,110 (GRCm39) |
Y364* |
probably null |
Het |
| Syt3 |
A |
T |
7: 44,035,486 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tango2 |
G |
T |
16: 18,125,857 (GRCm39) |
P143H |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,107 (GRCm39) |
S201P |
probably damaging |
Het |
| Tas2r107 |
G |
A |
6: 131,636,447 (GRCm39) |
L201F |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,374 (GRCm39) |
L78Q |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,508,072 (GRCm39) |
T351S |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation