Incidental Mutation 'R4430:Pde3b'
ID |
328566 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde3b
|
Ensembl Gene |
ENSMUSG00000030671 |
Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
Synonyms |
9830102A01Rik |
MMRRC Submission |
041700-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4430 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 114133905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 974
(P974S)
|
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: P974S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032909 Gene: ENSMUSG00000030671 AA Change: P974S
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
Ankrd55 |
G |
A |
13: 112,459,717 (GRCm39) |
|
probably null |
Het |
Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
Or6c213 |
T |
A |
10: 129,574,130 (GRCm39) |
I219F |
probably damaging |
Het |
Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sox5 |
A |
G |
6: 143,987,000 (GRCm39) |
I188T |
possibly damaging |
Het |
Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,483,552 (GRCm39) |
V50A |
possibly damaging |
Het |
Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
probably benign |
Het |
Zfp54 |
T |
G |
17: 21,655,222 (GRCm39) |
V572G |
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 |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCGAGTCAGTAATGTTTTGAGG -3'
(R):5'- AGGAGTTACTCAACATATCTGTACC -3'
Sequencing Primer
(F):5'- ACCTTTAATCCCAGGGTTCAGGAG -3'
(R):5'- CCTTCGGGATAGCATTGAAAATG -3'
|
Posted On |
2015-07-21 |