Incidental Mutation 'R8483:Pde3b'
| ID |
657623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde3b
|
| Ensembl Gene |
ENSMUSG00000030671 |
| Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
| Synonyms |
9830102A01Rik |
| MMRRC Submission |
067927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114118803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 647
(I647M)
|
| 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: I647M
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: I647M
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,285 (GRCm39) |
*148Q |
probably null |
Het |
| Ankrd28 |
A |
T |
14: 31,457,048 (GRCm39) |
|
probably null |
Het |
| Ark2c |
G |
A |
18: 77,556,034 (GRCm39) |
A174V |
probably benign |
Het |
| Aurkc |
T |
A |
7: 6,999,664 (GRCm39) |
L57* |
probably null |
Het |
| Brca1 |
T |
C |
11: 101,416,802 (GRCm39) |
D444G |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,240,235 (GRCm39) |
I134F |
possibly damaging |
Het |
| Cdhr4 |
T |
C |
9: 107,872,198 (GRCm39) |
V204A |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,822,412 (GRCm39) |
D835G |
possibly damaging |
Het |
| Cux1 |
C |
A |
5: 136,303,944 (GRCm39) |
A1328S |
possibly damaging |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 43,993,898 (GRCm39) |
D186G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,536,253 (GRCm39) |
I3677V |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,516,306 (GRCm39) |
D477G |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,507,785 (GRCm39) |
Y269F |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,069,118 (GRCm39) |
H64R |
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,959 (GRCm39) |
V203E |
probably damaging |
Het |
| Gpam |
A |
C |
19: 55,077,374 (GRCm39) |
V139G |
probably damaging |
Het |
| Gsta3 |
G |
A |
1: 21,333,063 (GRCm39) |
S104N |
probably damaging |
Het |
| Hsd17b13 |
C |
T |
5: 104,125,049 (GRCm39) |
G45R |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,808 (GRCm39) |
M173V |
|
Het |
| Ipo5 |
A |
G |
14: 121,183,560 (GRCm39) |
E1046G |
probably benign |
Het |
| Kank4 |
T |
A |
4: 98,659,615 (GRCm39) |
Q821L |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,719,461 (GRCm39) |
S1271I |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,619,370 (GRCm39) |
S176P |
probably benign |
Het |
| Lbhd2 |
G |
A |
12: 111,378,190 (GRCm39) |
D86N |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Lrrc55 |
A |
T |
2: 85,022,295 (GRCm39) |
C299S |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,915 (GRCm39) |
Y76C |
probably benign |
Het |
| Nprl3 |
T |
A |
11: 32,213,083 (GRCm39) |
S44C |
probably damaging |
Het |
| Nucks1 |
A |
G |
1: 131,855,829 (GRCm39) |
H86R |
possibly damaging |
Het |
| Or14j3 |
A |
G |
17: 37,900,866 (GRCm39) |
V126A |
possibly damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,678 (GRCm39) |
D189G |
probably benign |
Het |
| Or6c219 |
T |
A |
10: 129,780,998 (GRCm39) |
H311L |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,894,311 (GRCm39) |
|
probably benign |
Het |
| Oxa1l |
G |
A |
14: 54,606,001 (GRCm39) |
|
probably null |
Het |
| Patj |
C |
A |
4: 98,312,539 (GRCm39) |
H292Q |
probably damaging |
Het |
| Pcdha9 |
A |
G |
18: 37,131,636 (GRCm39) |
N235S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,590 (GRCm39) |
T579S |
possibly damaging |
Het |
| Pdp1 |
T |
C |
4: 11,961,982 (GRCm39) |
R110G |
probably benign |
Het |
| Prb1a |
T |
G |
6: 132,185,398 (GRCm39) |
R78S |
unknown |
Het |
| Prmt8 |
A |
C |
6: 127,680,976 (GRCm39) |
|
probably null |
Het |
| Semp2l2a |
T |
A |
8: 13,888,229 (GRCm39) |
|
probably benign |
Het |
| Slc35f2 |
T |
A |
9: 53,716,985 (GRCm39) |
Y249* |
probably null |
Het |
| Smok2b |
A |
C |
17: 13,453,908 (GRCm39) |
M23L |
probably benign |
Het |
| Sra1 |
A |
G |
18: 36,800,879 (GRCm39) |
I153T |
probably benign |
Het |
| Stk38l |
T |
A |
6: 146,660,017 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Tent5c |
T |
A |
3: 100,379,784 (GRCm39) |
H324L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,732,869 (GRCm39) |
S3073P |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,230,953 (GRCm39) |
I844T |
probably damaging |
Het |
| V1ra8 |
A |
T |
6: 90,179,916 (GRCm39) |
I40F |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,530 (GRCm39) |
M81K |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,393,763 (GRCm39) |
I1182T |
probably damaging |
Het |
| Wdr54 |
A |
G |
6: 83,130,591 (GRCm39) |
V181A |
probably benign |
Het |
| Zbed4 |
A |
G |
15: 88,665,990 (GRCm39) |
Y686C |
probably damaging |
Het |
| Zfyve28 |
T |
C |
5: 34,393,480 (GRCm39) |
N62S |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
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 |
|
|
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 |
|
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'- GCCTCCTGATGCTAAGATGTG -3'
(R):5'- GACAATGCCATTTCTGAACTTGTAC -3'
Sequencing Primer
(F):5'- CTCCTGATGCTAAGATGTGTTTGAAG -3'
(R):5'- GCCATTTCTGAACTTGTACTTAAACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation