Incidental Mutation 'R5844:Pde3b'
| ID |
450595 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde3b
|
| Ensembl Gene |
ENSMUSG00000030671 |
| Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
| Synonyms |
9830102A01Rik |
| MMRRC Submission |
044062-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5844 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
114014388-114137173 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114108106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 568
(T568I)
|
| 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: T568I
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000032909
Gene: ENSMUSG00000030671
AA Change: T568I
| 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: ENSMUST00000140007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210411
|
| Meta Mutation Damage Score |
0.0705 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
T |
15: 81,950,065 (GRCm39) |
M1321L |
probably benign |
Het |
| Adra1a |
C |
T |
14: 66,965,183 (GRCm39) |
T391I |
probably benign |
Het |
| Atf7ip |
C |
A |
6: 136,583,812 (GRCm39) |
A1281D |
probably damaging |
Het |
| BC005624 |
T |
C |
2: 30,866,023 (GRCm39) |
N141S |
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,397,257 (GRCm39) |
L1082Q |
possibly damaging |
Het |
| Cavin2 |
C |
T |
1: 51,328,998 (GRCm39) |
R152C |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 57,940,489 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,784,135 (GRCm39) |
D466G |
probably benign |
Het |
| Cfap46 |
C |
A |
7: 139,230,858 (GRCm39) |
M923I |
probably damaging |
Het |
| Chd1l |
T |
A |
3: 97,479,883 (GRCm39) |
K621N |
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,955,575 (GRCm39) |
|
probably benign |
Het |
| Cym |
T |
C |
3: 107,127,080 (GRCm39) |
H25R |
probably benign |
Het |
| Dagla |
T |
A |
19: 10,248,489 (GRCm39) |
D57V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
A |
10: 34,029,038 (GRCm39) |
D684V |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,058,760 (GRCm39) |
S326T |
probably benign |
Het |
| Galntl5 |
G |
T |
5: 25,391,091 (GRCm39) |
|
probably benign |
Het |
| Grm5 |
A |
G |
7: 87,453,232 (GRCm39) |
R290G |
possibly damaging |
Het |
| Gtpbp3 |
A |
G |
8: 71,945,199 (GRCm39) |
T425A |
probably benign |
Het |
| Hepacam2 |
A |
G |
6: 3,476,073 (GRCm39) |
I284T |
probably damaging |
Het |
| Ifi205 |
A |
C |
1: 173,854,258 (GRCm39) |
|
probably null |
Het |
| Irs3 |
T |
C |
5: 137,642,548 (GRCm39) |
T297A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,039,036 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,697,542 (GRCm39) |
S782G |
probably benign |
Het |
| Mis18a |
G |
A |
16: 90,523,969 (GRCm39) |
|
silent |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,181,182 (GRCm39) |
|
probably null |
Het |
| Ntaq1 |
A |
G |
15: 58,017,056 (GRCm39) |
N157S |
probably benign |
Het |
| Or13a1 |
A |
T |
6: 116,470,900 (GRCm39) |
E110V |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,239 (GRCm39) |
V142A |
probably benign |
Het |
| Pip4p1 |
T |
C |
14: 51,166,499 (GRCm39) |
T160A |
probably benign |
Het |
| Pkhd1 |
G |
T |
1: 20,451,685 (GRCm39) |
D2203E |
probably benign |
Het |
| Ppp1r36 |
A |
G |
12: 76,473,566 (GRCm39) |
K66E |
possibly damaging |
Het |
| Rfc1 |
C |
A |
5: 65,451,130 (GRCm39) |
M319I |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,881,068 (GRCm39) |
V456A |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,966,589 (GRCm39) |
K109R |
probably benign |
Het |
| Sgo2a |
T |
G |
1: 58,055,556 (GRCm39) |
V580G |
probably damaging |
Het |
| Skint9 |
T |
C |
4: 112,271,080 (GRCm39) |
Q110R |
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,868,035 (GRCm39) |
Y507C |
probably damaging |
Het |
| Smarca4 |
T |
A |
9: 21,589,238 (GRCm39) |
|
probably benign |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,384,580 (GRCm39) |
F1413V |
probably damaging |
Het |
| Trpm8 |
T |
C |
1: 88,312,433 (GRCm39) |
*1105Q |
probably null |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zim1 |
T |
C |
7: 6,681,115 (GRCm39) |
R183G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,657,354 (GRCm39) |
S871P |
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 |
|
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'- ATTCAGGTTCATGCACAGATTAACG -3'
(R):5'- TACTGCCCACCATGGAGATGAG -3'
Sequencing Primer
(F):5'- CATGCACAGATTAACGTCTTAGG -3'
(R):5'- ATGTCATCAGTGTGGAGTACTCTC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation