Incidental Mutation 'IGL02113:Pde3b'
ID |
280240 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pde3b
|
Ensembl Gene |
ENSMUSG00000030671 |
Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
Synonyms |
9830102A01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02113
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 114126141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 792
(V792M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032909
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032909]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032909
AA Change: V792M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032909 Gene: ENSMUSG00000030671 AA Change: V792M
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
73 |
90 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
132 |
N/A |
INTRINSIC |
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
transmembrane domain
|
171 |
190 |
N/A |
INTRINSIC |
transmembrane domain
|
197 |
219 |
N/A |
INTRINSIC |
low complexity region
|
490 |
504 |
N/A |
INTRINSIC |
HDc
|
710 |
927 |
7.52e-4 |
SMART |
low complexity region
|
991 |
1023 |
N/A |
INTRINSIC |
low complexity region
|
1048 |
1067 |
N/A |
INTRINSIC |
low complexity region
|
1081 |
1096 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149455
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutants show abnormalities in glycerol and fatty acid levels, along with changes in adipocyte morphology and decreased body fat percentage. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
T |
3: 121,904,127 (GRCm39) |
H726L |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,950,508 (GRCm39) |
Y900* |
probably null |
Het |
Atp11a |
G |
T |
8: 12,915,048 (GRCm39) |
R1155S |
probably benign |
Het |
Bahd1 |
A |
G |
2: 118,747,686 (GRCm39) |
D435G |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,444 (GRCm39) |
T1403A |
possibly damaging |
Het |
Cc2d2a |
T |
A |
5: 43,842,590 (GRCm39) |
|
probably null |
Het |
Cog7 |
A |
G |
7: 121,524,703 (GRCm39) |
I697T |
probably damaging |
Het |
Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,890,560 (GRCm39) |
|
probably benign |
Het |
Dpyd |
A |
G |
3: 118,792,868 (GRCm39) |
Y525C |
probably benign |
Het |
Eepd1 |
T |
C |
9: 25,394,009 (GRCm39) |
L91P |
probably damaging |
Het |
Foxf1 |
T |
A |
8: 121,811,304 (GRCm39) |
L56H |
probably damaging |
Het |
Fry |
A |
T |
5: 150,323,070 (GRCm39) |
M1074L |
probably benign |
Het |
Gbx1 |
T |
C |
5: 24,709,874 (GRCm39) |
T324A |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,064,349 (GRCm39) |
N646K |
probably benign |
Het |
Gm10258 |
C |
T |
3: 30,322,542 (GRCm39) |
|
probably benign |
Het |
Gm12887 |
T |
C |
4: 121,473,692 (GRCm39) |
M53V |
probably benign |
Het |
Hoxa11 |
C |
T |
6: 52,222,297 (GRCm39) |
G135S |
probably damaging |
Het |
Mettl6 |
A |
T |
14: 31,204,788 (GRCm39) |
Y211* |
probably null |
Het |
Moxd2 |
T |
C |
6: 40,862,338 (GRCm39) |
I160M |
probably benign |
Het |
Mphosph10 |
G |
A |
7: 64,026,555 (GRCm39) |
|
probably benign |
Het |
Mrpl19 |
T |
A |
6: 81,942,896 (GRCm39) |
M5L |
probably benign |
Het |
Nbea |
A |
G |
3: 55,899,913 (GRCm39) |
V1412A |
probably benign |
Het |
Nceh1 |
G |
T |
3: 27,277,040 (GRCm39) |
S121I |
probably damaging |
Het |
Ntan1 |
A |
G |
16: 13,653,008 (GRCm39) |
T217A |
probably damaging |
Het |
Ogfod1 |
C |
T |
8: 94,790,841 (GRCm39) |
A504V |
probably damaging |
Het |
Or52r1c |
A |
T |
7: 102,735,057 (GRCm39) |
I111L |
possibly damaging |
Het |
Pde9a |
A |
T |
17: 31,678,944 (GRCm39) |
M262L |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,191,279 (GRCm39) |
V206A |
probably benign |
Het |
Pkp1 |
A |
T |
1: 135,811,652 (GRCm39) |
N406K |
possibly damaging |
Het |
Rcn3 |
A |
G |
7: 44,732,762 (GRCm39) |
I302T |
probably damaging |
Het |
Rfx6 |
A |
G |
10: 51,554,108 (GRCm39) |
Q68R |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,371,301 (GRCm39) |
D340G |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,438,956 (GRCm39) |
G1638S |
probably damaging |
Het |
Serpinb9f |
A |
T |
13: 33,518,451 (GRCm39) |
H317L |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,950,054 (GRCm39) |
I466T |
probably benign |
Het |
Smyd2 |
A |
T |
1: 189,614,414 (GRCm39) |
S371R |
probably damaging |
Het |
Snap47 |
A |
C |
11: 59,319,262 (GRCm39) |
I292S |
probably damaging |
Het |
Tbx4 |
A |
G |
11: 85,803,090 (GRCm39) |
E322G |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,577,179 (GRCm39) |
T1501A |
probably benign |
Het |
Tmem259 |
A |
G |
10: 79,814,543 (GRCm39) |
V300A |
probably benign |
Het |
Usp7 |
A |
G |
16: 8,534,377 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
G |
T |
17: 18,477,937 (GRCm39) |
T158K |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,660,169 (GRCm39) |
A194S |
possibly damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,047 (GRCm39) |
I400N |
possibly damaging |
Het |
Zmynd12 |
T |
A |
4: 119,291,194 (GRCm39) |
I53K |
probably damaging |
Het |
|
Other mutations in Pde3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01509:Pde3b
|
APN |
7 |
114,117,645 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01637:Pde3b
|
APN |
7 |
114,126,136 (GRCm39) |
nonsense |
probably null |
|
IGL02004:Pde3b
|
APN |
7 |
114,118,852 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02201:Pde3b
|
APN |
7 |
114,133,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02266:Pde3b
|
APN |
7 |
114,126,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02601:Pde3b
|
APN |
7 |
114,122,577 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02641:Pde3b
|
APN |
7 |
114,130,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02671:Pde3b
|
APN |
7 |
114,122,580 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02691:Pde3b
|
APN |
7 |
114,107,320 (GRCm39) |
splice site |
probably benign |
|
IGL02719:Pde3b
|
APN |
7 |
114,105,483 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03092:Pde3b
|
APN |
7 |
114,122,583 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4342:Pde3b
|
UTSW |
7 |
114,134,010 (GRCm39) |
small insertion |
probably benign |
|
R0208:Pde3b
|
UTSW |
7 |
114,097,216 (GRCm39) |
missense |
probably benign |
0.00 |
R1191:Pde3b
|
UTSW |
7 |
114,118,810 (GRCm39) |
missense |
probably benign |
0.01 |
R1514:Pde3b
|
UTSW |
7 |
114,130,001 (GRCm39) |
missense |
probably damaging |
0.98 |
R1612:Pde3b
|
UTSW |
7 |
114,118,791 (GRCm39) |
nonsense |
probably null |
|
R2081:Pde3b
|
UTSW |
7 |
114,122,657 (GRCm39) |
missense |
probably benign |
|
R2433:Pde3b
|
UTSW |
7 |
114,126,072 (GRCm39) |
missense |
probably benign |
0.30 |
R2508:Pde3b
|
UTSW |
7 |
114,126,092 (GRCm39) |
nonsense |
probably null |
|
R3842:Pde3b
|
UTSW |
7 |
114,126,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R4082:Pde3b
|
UTSW |
7 |
114,093,823 (GRCm39) |
missense |
probably benign |
0.04 |
R4115:Pde3b
|
UTSW |
7 |
114,120,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R4197:Pde3b
|
UTSW |
7 |
114,130,107 (GRCm39) |
splice site |
probably benign |
|
R4236:Pde3b
|
UTSW |
7 |
114,120,923 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4355:Pde3b
|
UTSW |
7 |
114,015,522 (GRCm39) |
missense |
probably benign |
|
R4411:Pde3b
|
UTSW |
7 |
114,133,984 (GRCm39) |
small deletion |
probably benign |
|
R4430:Pde3b
|
UTSW |
7 |
114,133,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R4901:Pde3b
|
UTSW |
7 |
114,107,425 (GRCm39) |
missense |
probably damaging |
0.99 |
R4969:Pde3b
|
UTSW |
7 |
114,118,847 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5314:Pde3b
|
UTSW |
7 |
114,093,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5346:Pde3b
|
UTSW |
7 |
114,105,425 (GRCm39) |
missense |
probably benign |
0.00 |
R5706:Pde3b
|
UTSW |
7 |
114,120,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R5844:Pde3b
|
UTSW |
7 |
114,108,106 (GRCm39) |
missense |
probably benign |
0.01 |
R6014:Pde3b
|
UTSW |
7 |
114,015,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R6048:Pde3b
|
UTSW |
7 |
114,107,502 (GRCm39) |
missense |
probably benign |
0.00 |
R6190:Pde3b
|
UTSW |
7 |
114,122,267 (GRCm39) |
splice site |
probably null |
|
R7220:Pde3b
|
UTSW |
7 |
114,135,297 (GRCm39) |
missense |
probably damaging |
0.97 |
R7239:Pde3b
|
UTSW |
7 |
114,015,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R7818:Pde3b
|
UTSW |
7 |
114,090,675 (GRCm39) |
missense |
probably damaging |
0.99 |
R7869:Pde3b
|
UTSW |
7 |
114,093,922 (GRCm39) |
missense |
probably benign |
0.03 |
R8443:Pde3b
|
UTSW |
7 |
114,126,129 (GRCm39) |
missense |
probably damaging |
0.99 |
R8483:Pde3b
|
UTSW |
7 |
114,118,803 (GRCm39) |
missense |
probably benign |
0.15 |
R8516:Pde3b
|
UTSW |
7 |
114,126,084 (GRCm39) |
missense |
probably benign |
0.01 |
R8754:Pde3b
|
UTSW |
7 |
114,015,278 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9017:Pde3b
|
UTSW |
7 |
114,015,695 (GRCm39) |
nonsense |
probably null |
|
R9221:Pde3b
|
UTSW |
7 |
114,014,697 (GRCm39) |
start gained |
probably benign |
|
R9302:Pde3b
|
UTSW |
7 |
114,122,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9799:Pde3b
|
UTSW |
7 |
114,122,613 (GRCm39) |
missense |
probably damaging |
1.00 |
RF051:Pde3b
|
UTSW |
7 |
114,134,010 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2015-04-16 |