Incidental Mutation 'IGL02671:Pde3b'
| ID |
302911 |
| 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 # |
IGL02671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114122580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 716
(V716A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032909]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032909
AA Change: V716A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: V716A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,887 (GRCm39) |
H60Q |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
C |
T |
15: 42,539,790 (GRCm39) |
R23H |
possibly damaging |
Het |
| Cadps |
T |
A |
14: 12,491,824 (GRCm38) |
E775D |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,889,387 (GRCm39) |
M211K |
probably benign |
Het |
| Cfap410 |
A |
T |
10: 77,816,384 (GRCm39) |
|
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,445,245 (GRCm39) |
M77V |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,912 (GRCm39) |
|
probably null |
Het |
| Eef1d |
A |
G |
15: 75,767,654 (GRCm39) |
I240T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,876,475 (GRCm39) |
F2403I |
possibly damaging |
Het |
| Ighv1-47 |
C |
T |
12: 114,955,018 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,459 (GRCm39) |
L1159P |
probably damaging |
Het |
| Kif12 |
T |
C |
4: 63,088,694 (GRCm39) |
E202G |
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,015,372 (GRCm39) |
D315G |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,048,331 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
T |
4: 81,208,510 (GRCm39) |
D1778E |
probably damaging |
Het |
| Numbl |
C |
T |
7: 26,964,327 (GRCm39) |
R46W |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,257 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or6d13 |
C |
T |
6: 116,518,104 (GRCm39) |
T230I |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,597,672 (GRCm39) |
Y771* |
probably null |
Het |
| Pramel5 |
A |
G |
4: 143,999,682 (GRCm39) |
V135A |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,336,302 (GRCm39) |
|
probably null |
Het |
| Taf2 |
C |
T |
15: 54,897,572 (GRCm39) |
V919I |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,149 (GRCm39) |
D45V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,855,791 (GRCm39) |
T508A |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,089,181 (GRCm39) |
E569K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,937,719 (GRCm39) |
C875R |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,042,144 (GRCm39) |
N2208S |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 9,997,196 (GRCm39) |
V436A |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,296,437 (GRCm39) |
R1197* |
probably null |
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 |
|
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 |
|
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