Incidental Mutation 'R8416:Pde1c'
| ID |
652943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde1c
|
| Ensembl Gene |
ENSMUSG00000004347 |
| Gene Name |
phosphodiesterase 1C |
| Synonyms |
|
| MMRRC Submission |
067770-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R8416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
56046789-56629472 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 56128276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044505]
[ENSMUST00000114327]
[ENSMUST00000164037]
[ENSMUST00000164752]
[ENSMUST00000166102]
[ENSMUST00000166890]
[ENSMUST00000168944]
[ENSMUST00000170774]
[ENSMUST00000203372]
|
| AlphaFold |
Q64338 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044505
|
| SMART Domains |
Protein: ENSMUSP00000046601
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109966
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130139
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129185
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131350
Gene: ENSMUSG00000004347
| 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: ENSMUST00000166890
|
| SMART Domains |
Protein: ENSMUSP00000131892
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128364
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000133170
Gene: ENSMUSG00000004347
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145508
Gene: ENSMUSG00000004347
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 |
|---|
| Abcf3 |
A |
G |
16: 20,369,023 (GRCm39) |
N173S |
probably benign |
Het |
| Agps |
A |
G |
2: 75,684,547 (GRCm39) |
I172V |
probably benign |
Het |
| Amz1 |
G |
A |
5: 140,737,731 (GRCm39) |
W330* |
probably null |
Het |
| Asap1 |
A |
T |
15: 64,002,072 (GRCm39) |
M413K |
possibly damaging |
Het |
| Bhmt1b |
T |
C |
18: 87,774,687 (GRCm39) |
V70A |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,885,513 (GRCm39) |
W291R |
unknown |
Het |
| Cdh19 |
A |
T |
1: 110,853,610 (GRCm39) |
M277K |
probably benign |
Het |
| Clca3a1 |
C |
A |
3: 144,460,914 (GRCm39) |
|
probably null |
Het |
| Cnpy1 |
T |
C |
5: 28,408,423 (GRCm39) |
T138A |
probably benign |
Het |
| Csnka2ip |
T |
C |
16: 64,300,295 (GRCm39) |
D23G |
|
Het |
| Cxcr5 |
A |
T |
9: 44,425,583 (GRCm39) |
F25I |
probably benign |
Het |
| Defb33 |
T |
A |
8: 21,387,651 (GRCm39) |
*63R |
probably null |
Het |
| Dgkz |
A |
T |
2: 91,770,649 (GRCm39) |
S485T |
possibly damaging |
Het |
| Elac1 |
A |
G |
18: 73,871,927 (GRCm39) |
I356T |
probably damaging |
Het |
| Fam135a |
C |
T |
1: 24,067,675 (GRCm39) |
D1065N |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,058,942 (GRCm39) |
D265V |
possibly damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,331 (GRCm39) |
E223G |
probably benign |
Het |
| Gjc2 |
A |
T |
11: 59,068,334 (GRCm39) |
D49E |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Irf2 |
A |
T |
8: 47,271,887 (GRCm39) |
Y158F |
probably benign |
Het |
| Jmy |
T |
C |
13: 93,634,949 (GRCm39) |
D289G |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Limch1 |
T |
G |
5: 67,156,649 (GRCm39) |
I372S |
probably benign |
Het |
| Lsm11 |
A |
T |
11: 45,824,730 (GRCm39) |
W266R |
probably benign |
Het |
| Mboat2 |
G |
A |
12: 24,984,609 (GRCm39) |
E147K |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,852,210 (GRCm39) |
I439V |
probably benign |
Het |
| Npc2 |
A |
G |
12: 84,812,131 (GRCm39) |
V37A |
probably damaging |
Het |
| Or2t29 |
A |
T |
11: 58,433,778 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or5b119 |
A |
T |
19: 13,456,764 (GRCm39) |
M266K |
possibly damaging |
Het |
| Parp4 |
T |
C |
14: 56,825,271 (GRCm39) |
|
probably null |
Het |
| Pcdhga2 |
A |
T |
18: 37,803,178 (GRCm39) |
N341Y |
probably damaging |
Het |
| Pde1b |
G |
A |
15: 103,423,745 (GRCm39) |
|
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,761,441 (GRCm39) |
V2098I |
possibly damaging |
Het |
| Pou2f2 |
G |
T |
7: 24,815,551 (GRCm39) |
S72* |
probably null |
Het |
| Ptpru |
C |
T |
4: 131,535,783 (GRCm39) |
R398H |
probably damaging |
Het |
| Rps15 |
A |
G |
10: 80,128,624 (GRCm39) |
K7E |
probably benign |
Het |
| Rtn4rl2 |
C |
T |
2: 84,702,951 (GRCm39) |
G207D |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,511,345 (GRCm39) |
L130F |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,868,256 (GRCm39) |
R403W |
probably damaging |
Het |
| Slc7a9 |
A |
G |
7: 35,152,858 (GRCm39) |
K92R |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,399,062 (GRCm39) |
E142D |
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,813,229 (GRCm39) |
I505T |
probably damaging |
Het |
| Sult1c2 |
A |
T |
17: 54,269,580 (GRCm39) |
I216K |
probably benign |
Het |
| Susd6 |
T |
A |
12: 80,897,997 (GRCm39) |
M44K |
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,876,068 (GRCm39) |
V607E |
probably benign |
Het |
| Tiparp |
A |
G |
3: 65,438,767 (GRCm39) |
R28G |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,540,116 (GRCm39) |
V1498I |
probably benign |
Het |
| Tmprss11c |
T |
G |
5: 86,387,276 (GRCm39) |
Q214P |
probably damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Wdr11 |
G |
A |
7: 129,232,403 (GRCm39) |
S937N |
possibly damaging |
Het |
| Zdhhc23 |
A |
T |
16: 43,791,927 (GRCm39) |
I282K |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,693,052 (GRCm39) |
M37T |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,940,556 (GRCm39) |
S142G |
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 |
|
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 |
|
|
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'- ATAAGCCTGCACATGATTGGGAG -3'
(R):5'- GACTACTGCAAAGACTGACATTAG -3'
Sequencing Primer
(F):5'- CCTGCACATGATTGGGAGATGTTG -3'
(R):5'- ACTGCAAAGACTGACATTAGATTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation