Incidental Mutation 'R5052:Pde1b'
| ID |
394712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde1b
|
| Ensembl Gene |
ENSMUSG00000022489 |
| Gene Name |
phosphodiesterase 1B, Ca2+-calmodulin dependent |
| Synonyms |
|
| MMRRC Submission |
042642-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5052 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
103411461-103438479 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103436075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 493
(Q493K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023132]
[ENSMUST00000023133]
[ENSMUST00000226468]
[ENSMUST00000227955]
|
| AlphaFold |
Q01065 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023132
AA Change: Q493K
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023132
Gene: ENSMUSG00000022489
AA Change: Q493K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:PDEase_I_N
|
76 |
136 |
1.2e-33 |
PFAM |
|
HDc
|
219 |
383 |
8.77e-5 |
SMART |
|
Blast:HDc
|
394 |
443 |
1e-20 |
BLAST |
|
low complexity region
|
467 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
527 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023133
|
| SMART Domains |
Protein: ENSMUSP00000023133
Gene: ENSMUSG00000022490
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DARPP-32
|
2 |
165 |
2.2e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227925
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227955
AA Change: Q474K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228813
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display increased exploratory behavior. Learning deficits and hyperactivity are also observed in some situations. [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 |
|---|
| Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
| Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
| Ak5 |
T |
C |
3: 152,366,204 (GRCm39) |
T66A |
probably benign |
Het |
| Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
| Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
| Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
| Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
| Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
| Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
| P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
| Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
| Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
possibly damaging |
Het |
|
| Other mutations in Pde1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Pde1b
|
APN |
15 |
103,435,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01539:Pde1b
|
APN |
15 |
103,433,772 (GRCm39) |
splice site |
probably benign |
|
|
IGL01988:Pde1b
|
APN |
15 |
103,433,283 (GRCm39) |
splice site |
probably null |
|
|
IGL02380:Pde1b
|
APN |
15 |
103,428,417 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02424:Pde1b
|
APN |
15 |
103,436,646 (GRCm39) |
splice site |
probably benign |
|
|
IGL02710:Pde1b
|
APN |
15 |
103,430,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Pde1b
|
UTSW |
15 |
103,411,940 (GRCm39) |
missense |
probably benign |
|
|
R1302:Pde1b
|
UTSW |
15 |
103,436,026 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1312:Pde1b
|
UTSW |
15 |
103,434,700 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1449:Pde1b
|
UTSW |
15 |
103,433,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1631:Pde1b
|
UTSW |
15 |
103,430,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1848:Pde1b
|
UTSW |
15 |
103,433,767 (GRCm39) |
splice site |
probably null |
|
|
R4032:Pde1b
|
UTSW |
15 |
103,429,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Pde1b
|
UTSW |
15 |
103,429,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4901:Pde1b
|
UTSW |
15 |
103,435,112 (GRCm39) |
missense |
probably null |
0.92 |
|
R5935:Pde1b
|
UTSW |
15 |
103,429,866 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6117:Pde1b
|
UTSW |
15 |
103,429,909 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Pde1b
|
UTSW |
15 |
103,435,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7116:Pde1b
|
UTSW |
15 |
103,436,745 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7270:Pde1b
|
UTSW |
15 |
103,430,082 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7359:Pde1b
|
UTSW |
15 |
103,429,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Pde1b
|
UTSW |
15 |
103,433,256 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8058:Pde1b
|
UTSW |
15 |
103,433,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8120:Pde1b
|
UTSW |
15 |
103,430,524 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8350:Pde1b
|
UTSW |
15 |
103,411,901 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R8416:Pde1b
|
UTSW |
15 |
103,423,745 (GRCm39) |
start gained |
probably benign |
|
|
R8772:Pde1b
|
UTSW |
15 |
103,433,548 (GRCm39) |
splice site |
probably benign |
|
|
R8781:Pde1b
|
UTSW |
15 |
103,433,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Pde1b
|
UTSW |
15 |
103,429,852 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9418:Pde1b
|
UTSW |
15 |
103,433,464 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9498:Pde1b
|
UTSW |
15 |
103,435,489 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9709:Pde1b
|
UTSW |
15 |
103,411,985 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAACTCTGACCCCTCAG -3'
(R):5'- TCCTGGGACTTAACAAGAAGGG -3'
Sequencing Primer
(F):5'- TATCTCTATGCTGAGGGCTAAGAAG -3'
(R):5'- CTTAACAAGAAGGGGGTTGCTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation