Incidental Mutation 'IGL02266:Pde3b'
| ID |
286898 |
| 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 # |
IGL02266
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114126201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 812
(T812A)
|
| 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: T812A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: T812A
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,307,360 (GRCm39) |
Q1974* |
probably null |
Het |
| Actl11 |
G |
T |
9: 107,808,382 (GRCm39) |
V902L |
possibly damaging |
Het |
| Adam11 |
T |
C |
11: 102,663,493 (GRCm39) |
V274A |
probably damaging |
Het |
| Akr1b8 |
A |
G |
6: 34,331,208 (GRCm39) |
I15V |
probably benign |
Het |
| Chrm3 |
T |
A |
13: 9,927,314 (GRCm39) |
Q574L |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,999,300 (GRCm39) |
I238N |
possibly damaging |
Het |
| Crk |
C |
A |
11: 75,570,415 (GRCm39) |
R16S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,843,163 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,254,725 (GRCm39) |
N369S |
possibly damaging |
Het |
| Fam220a |
T |
C |
5: 143,549,326 (GRCm39) |
V246A |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,457,481 (GRCm39) |
F370I |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gpr75 |
A |
C |
11: 30,841,977 (GRCm39) |
Q294P |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,237,888 (GRCm39) |
F204L |
probably damaging |
Het |
| Lrrc8c |
A |
C |
5: 105,756,114 (GRCm39) |
I630L |
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,753,162 (GRCm39) |
D407G |
possibly damaging |
Het |
| Or4f61 |
G |
A |
2: 111,922,588 (GRCm39) |
L153F |
probably benign |
Het |
| Or8k22 |
T |
A |
2: 86,163,323 (GRCm39) |
I126F |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,791,086 (GRCm39) |
|
probably benign |
Het |
| Phtf2 |
T |
G |
5: 21,010,797 (GRCm39) |
K63Q |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,010 (GRCm39) |
H3456L |
probably damaging |
Het |
| Plcd1 |
A |
G |
9: 118,903,855 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,697 (GRCm39) |
V734I |
possibly damaging |
Het |
| Ppp2r2d |
A |
G |
7: 138,470,166 (GRCm39) |
N38S |
probably damaging |
Het |
| Rnpepl1 |
T |
A |
1: 92,844,611 (GRCm39) |
W368R |
probably damaging |
Het |
| Sidt1 |
T |
C |
16: 44,075,348 (GRCm39) |
D670G |
possibly damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,045,092 (GRCm39) |
|
probably benign |
Het |
| Tekt5 |
A |
T |
16: 10,196,906 (GRCm39) |
I315N |
probably benign |
Het |
| Trappc11 |
A |
C |
8: 47,958,766 (GRCm39) |
C42G |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,626,331 (GRCm39) |
|
noncoding transcript |
Het |
| Ubqlnl |
C |
A |
7: 103,798,754 (GRCm39) |
E248* |
probably null |
Het |
| Ulk4 |
G |
T |
9: 120,910,766 (GRCm39) |
T1086K |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,978,234 (GRCm39) |
D680E |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,577,039 (GRCm39) |
Y346H |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,525,007 (GRCm39) |
I47T |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,129 (GRCm39) |
V178A |
probably benign |
Het |
| Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,653 (GRCm39) |
T1096A |
probably benign |
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 |
|
IGL02113:Pde3b
|
APN |
7 |
114,126,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02201:Pde3b
|
APN |
7 |
114,133,843 (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 |
Incidental Mutation