Incidental Mutation 'R8516:Pde3b'
| ID |
656152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde3b
|
| Ensembl Gene |
ENSMUSG00000030671 |
| Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
| Synonyms |
9830102A01Rik |
| MMRRC Submission |
067848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114126084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 773
(M773L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032909]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032909
AA Change: M773L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: M773L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,373 (GRCm39) |
S22T |
probably benign |
Het |
| Acte1 |
T |
A |
7: 143,451,011 (GRCm39) |
I342N |
probably damaging |
Het |
| Actr8 |
G |
T |
14: 29,712,856 (GRCm39) |
A500S |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,260,780 (GRCm39) |
Y1005C |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,763,559 (GRCm39) |
Y884* |
probably null |
Het |
| Arhgap28 |
T |
C |
17: 68,180,068 (GRCm39) |
R306G |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 59,928,921 (GRCm39) |
I1044M |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,747,452 (GRCm39) |
Y357C |
probably benign |
Het |
| Btd |
A |
T |
14: 31,388,824 (GRCm39) |
T182S |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,607 (GRCm39) |
R280C |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,774 (GRCm39) |
T106A |
probably damaging |
Het |
| Cldn15 |
G |
T |
5: 137,003,550 (GRCm39) |
C184F |
probably damaging |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coprs |
G |
T |
8: 13,935,065 (GRCm39) |
F163L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,492,761 (GRCm39) |
R2216* |
probably null |
Het |
| Defb7 |
A |
T |
8: 19,547,623 (GRCm39) |
I43F |
possibly damaging |
Het |
| Dpp8 |
C |
A |
9: 64,985,291 (GRCm39) |
T783K |
probably damaging |
Het |
| Eif2s1 |
G |
A |
12: 78,927,936 (GRCm39) |
G204D |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,108,576 (GRCm39) |
N56S |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 31,074,515 (GRCm39) |
R252H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,554 (GRCm39) |
L569Q |
probably damaging |
Het |
| Gpn2 |
C |
T |
4: 133,312,142 (GRCm39) |
R125C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,294 (GRCm39) |
E582G |
probably benign |
Het |
| Hadha |
A |
T |
5: 30,331,582 (GRCm39) |
V458E |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,246,893 (GRCm39) |
K4R |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,487,073 (GRCm39) |
H3356L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,318 (GRCm39) |
V3919I |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 135,003,021 (GRCm39) |
N76K |
probably damaging |
Het |
| Or52w1 |
A |
G |
7: 105,017,976 (GRCm39) |
I148V |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,963,869 (GRCm39) |
M462V |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,167,284 (GRCm39) |
S215G |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,074 (GRCm39) |
M331L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,658,188 (GRCm39) |
V213A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,070,764 (GRCm39) |
H1205R |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,966,826 (GRCm39) |
M85K |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,583,529 (GRCm39) |
I212N |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,164,441 (GRCm39) |
K714R |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,384,952 (GRCm39) |
G207S |
probably benign |
Het |
| Rgs22 |
A |
G |
15: 36,010,481 (GRCm39) |
*1259Q |
probably null |
Het |
| Scn1a |
C |
T |
2: 66,156,478 (GRCm39) |
G477D |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,051,262 (GRCm39) |
E222G |
probably null |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spem2 |
T |
C |
11: 69,707,721 (GRCm39) |
R415G |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,515 (GRCm39) |
V13E |
probably damaging |
Het |
| Trim2 |
C |
T |
3: 84,115,627 (GRCm39) |
A102T |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,611 (GRCm39) |
S82P |
probably benign |
Het |
| Uba6 |
A |
C |
5: 86,275,607 (GRCm39) |
S760R |
possibly damaging |
Het |
| Upf2 |
T |
C |
2: 6,023,782 (GRCm39) |
F711L |
unknown |
Het |
| Utrn |
T |
A |
10: 12,362,254 (GRCm39) |
D2693V |
probably damaging |
Het |
| Vmn1r30 |
T |
G |
6: 58,412,109 (GRCm39) |
Y241S |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,875 (GRCm39) |
L598P |
probably damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,599,984 (GRCm39) |
F14Y |
probably benign |
Het |
| Wnt10b |
A |
T |
15: 98,670,761 (GRCm39) |
C256S |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,930,444 (GRCm39) |
Y1554* |
probably null |
Het |
| Zc3h12a |
T |
A |
4: 125,013,632 (GRCm39) |
S411C |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,823,389 (GRCm39) |
G63E |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,797,477 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,493,419 (GRCm39) |
Y75F |
possibly 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 |
|
|
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 |
|
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'- GTCAGAATTCTCTAATGTCCTGC -3'
(R):5'- AGCATTCATCATCATGTGCTTTCAC -3'
Sequencing Primer
(F):5'- TGTCCTGCAAGATAAACAATGGG -3'
(R):5'- CAGATTATAGAGTGATATGCAATCGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation