Incidental Mutation 'R6117:Pde1b'
ID |
485184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde1b
|
Ensembl Gene |
ENSMUSG00000022489 |
Gene Name |
phosphodiesterase 1B, Ca2+-calmodulin dependent |
Synonyms |
|
MMRRC Submission |
044266-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6117 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
103411461-103438479 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103429909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 134
(V134A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023132]
[ENSMUST00000226468]
[ENSMUST00000226493]
[ENSMUST00000227955]
|
AlphaFold |
Q01065 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023132
AA Change: V134A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023132 Gene: ENSMUSG00000022489 AA Change: V134A
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 damaging
Transcript: ENSMUST00000226468
AA Change: V134A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226493
AA Change: V134A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227925
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227955
AA Change: V115A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl1 |
A |
G |
7: 76,348,534 (GRCm39) |
Y625C |
probably damaging |
Het |
Ankmy1 |
A |
G |
1: 92,788,996 (GRCm39) |
|
probably benign |
Het |
Apmap |
T |
C |
2: 150,442,252 (GRCm39) |
T41A |
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,341,350 (GRCm39) |
Y1804C |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,437,537 (GRCm39) |
I333N |
possibly damaging |
Het |
Cdsn |
C |
A |
17: 35,865,931 (GRCm39) |
S153R |
unknown |
Het |
Celsr1 |
A |
T |
15: 85,816,612 (GRCm39) |
M1777K |
probably benign |
Het |
Cmtr1 |
A |
G |
17: 29,901,139 (GRCm39) |
M249V |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,231,674 (GRCm39) |
L1138P |
probably damaging |
Het |
Crim1 |
A |
C |
17: 78,610,517 (GRCm39) |
D324A |
probably damaging |
Het |
Dmap1 |
T |
A |
4: 117,532,732 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 118,010,397 (GRCm39) |
Y307C |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,270,566 (GRCm39) |
L956H |
probably damaging |
Het |
Enpp3 |
C |
T |
10: 24,663,750 (GRCm39) |
S537N |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,439,173 (GRCm39) |
L323Q |
probably damaging |
Het |
Fads3 |
A |
T |
19: 10,031,631 (GRCm39) |
H226L |
probably damaging |
Het |
Flrt3 |
T |
A |
2: 140,502,365 (GRCm39) |
D421V |
possibly damaging |
Het |
Frmd4a |
T |
C |
2: 4,607,060 (GRCm39) |
V370A |
possibly damaging |
Het |
Gapvd1 |
T |
C |
2: 34,580,471 (GRCm39) |
|
probably null |
Het |
Gm2178 |
T |
C |
14: 26,235,995 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,937,888 (GRCm39) |
N390S |
probably benign |
Het |
Hoxa10 |
T |
A |
6: 52,211,800 (GRCm39) |
R39* |
probably null |
Het |
Kcnj1 |
A |
G |
9: 32,308,478 (GRCm39) |
T281A |
probably damaging |
Het |
Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
Naip1 |
T |
A |
13: 100,581,245 (GRCm39) |
M1L |
probably damaging |
Het |
Or10ak9 |
A |
T |
4: 118,726,341 (GRCm39) |
Y121F |
probably benign |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Pcdhb12 |
G |
A |
18: 37,568,695 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
A |
T |
15: 89,042,203 (GRCm39) |
D1600E |
probably benign |
Het |
Prss54 |
T |
A |
8: 96,292,086 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,465,741 (GRCm39) |
I4757N |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,624,822 (GRCm39) |
Y76H |
possibly damaging |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Sox15 |
G |
T |
11: 69,546,716 (GRCm39) |
G173V |
possibly damaging |
Het |
Stard3 |
T |
C |
11: 98,263,088 (GRCm39) |
S48P |
probably damaging |
Het |
Stk32c |
G |
A |
7: 138,702,839 (GRCm39) |
Q67* |
probably null |
Het |
Svil |
T |
A |
18: 5,116,016 (GRCm39) |
W2101R |
probably damaging |
Het |
Taar7e |
T |
A |
10: 23,914,427 (GRCm39) |
Y306N |
probably damaging |
Het |
Tarbp1 |
T |
A |
8: 127,154,280 (GRCm39) |
M1485L |
probably benign |
Het |
Togaram1 |
A |
G |
12: 65,014,261 (GRCm39) |
D504G |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,739,771 (GRCm39) |
L1091S |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,714,226 (GRCm39) |
E2856G |
possibly damaging |
Het |
Usp47 |
C |
T |
7: 111,687,139 (GRCm39) |
T699M |
probably 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 |
R5052:Pde1b
|
UTSW |
15 |
103,436,075 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5935:Pde1b
|
UTSW |
15 |
103,429,866 (GRCm39) |
missense |
possibly damaging |
0.81 |
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'- AAGCTGTGACTTTCCTTCTGG -3'
(R):5'- CACAGAGGTATACGTTCTCCGG -3'
Sequencing Primer
(F):5'- TGGTCCTCAGGCAAATCCTAG -3'
(R):5'- TCCGGAACATCCTGAGAAAGAAC -3'
|
Posted On |
2017-08-16 |