Incidental Mutation 'R5314:Pde3b'
| ID |
405745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde3b
|
| Ensembl Gene |
ENSMUSG00000030671 |
| Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
| Synonyms |
9830102A01Rik |
| MMRRC Submission |
042897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114093772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 339
(N339Y)
|
| 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: N339Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: N339Y
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,473,172 (GRCm39) |
F109S |
unknown |
Het |
| Ankhd1 |
A |
T |
18: 36,694,111 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,863,248 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
G |
T |
6: 29,417,497 (GRCm39) |
V707F |
probably benign |
Het |
| Ccdc157 |
A |
T |
11: 4,100,078 (GRCm39) |
C91* |
probably null |
Het |
| Ceacam3 |
T |
A |
7: 16,892,296 (GRCm39) |
N346K |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,626 (GRCm39) |
D1196G |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,077,551 (GRCm39) |
E74G |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,192,892 (GRCm39) |
M665V |
probably benign |
Het |
| Crtc2 |
C |
T |
3: 90,168,348 (GRCm39) |
Q364* |
probably null |
Het |
| Csf1r |
T |
A |
18: 61,262,796 (GRCm39) |
I857N |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,558,460 (GRCm39) |
G168D |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,443,182 (GRCm39) |
T315A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,493 (GRCm39) |
V153A |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,211,682 (GRCm39) |
I193T |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,462,969 (GRCm39) |
I9T |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,246 (GRCm39) |
I208F |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,364 (GRCm39) |
V243A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,869,534 (GRCm39) |
V4297A |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,677,960 (GRCm39) |
P106S |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,352,486 (GRCm39) |
T218A |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,946,220 (GRCm39) |
S1677P |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,526 (GRCm39) |
M293K |
probably damaging |
Het |
| Meis3 |
T |
A |
7: 15,917,989 (GRCm39) |
V307E |
probably damaging |
Het |
| Nadk2 |
A |
C |
15: 9,108,401 (GRCm39) |
I417L |
probably benign |
Het |
| Nav2 |
AAGCAGCAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCAGCAGCA |
7: 49,058,440 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,515 (GRCm39) |
N1659K |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,630 (GRCm39) |
V274A |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,785 (GRCm39) |
S233P |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pde8b |
A |
G |
13: 95,223,361 (GRCm39) |
F298L |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,906,603 (GRCm39) |
R606H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,290,528 (GRCm39) |
D535G |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,905,121 (GRCm39) |
V130A |
probably damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,474 (GRCm39) |
F57L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,401 (GRCm39) |
V1334A |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,870,686 (GRCm39) |
E433G |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,413 (GRCm39) |
R277* |
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,805,015 (GRCm39) |
S349T |
probably benign |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,368,067 (GRCm39) |
|
probably null |
Het |
| Smc1b |
T |
A |
15: 84,955,066 (GRCm39) |
Y1062F |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,476 (GRCm39) |
R298* |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,246 (GRCm39) |
C189S |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,382,672 (GRCm39) |
D103E |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,568,087 (GRCm39) |
I236V |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,208,407 (GRCm39) |
V316A |
probably damaging |
Het |
| Treml2 |
T |
A |
17: 48,607,601 (GRCm39) |
L16Q |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,335,337 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,013,178 (GRCm39) |
Y567H |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,087 (GRCm39) |
R441* |
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,679,373 (GRCm39) |
I59M |
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 |
|
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 |
|
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'- ACCCCTTTGGACTGAACTGC -3'
(R):5'- CAACTGGATCTTCTACTTCAGAGC -3'
Sequencing Primer
(F):5'- CAATAAGGTGCACACGTTGTAC -3'
(R):5'- TCTACTTCAGAGCAGGGATAAAATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation