Incidental Mutation 'R9799:Pde3b'
ID |
735096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde3b
|
Ensembl Gene |
ENSMUSG00000030671 |
Gene Name |
phosphodiesterase 3B, cGMP-inhibited |
Synonyms |
9830102A01Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9799 (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 G
at 114122613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 727
(Y727C)
|
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: Y727C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032909 Gene: ENSMUSG00000030671 AA Change: Y727C
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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,132,998 (GRCm39) |
Y1309C |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,768,961 (GRCm39) |
T1056A |
probably benign |
Het |
Adcy2 |
T |
A |
13: 68,805,489 (GRCm39) |
R826S |
probably damaging |
Het |
Agxt |
T |
C |
1: 93,063,070 (GRCm39) |
W19R |
probably benign |
Het |
Akr1b8 |
G |
A |
6: 34,333,278 (GRCm39) |
E52K |
possibly damaging |
Het |
Arhgef10 |
T |
C |
8: 14,990,268 (GRCm39) |
Y248H |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,855,391 (GRCm39) |
D232G |
unknown |
Het |
Arid4b |
T |
C |
13: 14,358,967 (GRCm39) |
S668P |
probably benign |
Het |
Ccdc136 |
T |
A |
6: 29,417,505 (GRCm39) |
S775R |
probably damaging |
Het |
Ccl25 |
T |
C |
8: 4,377,799 (GRCm39) |
F20L |
unknown |
Het |
Cimap1a |
A |
T |
7: 140,430,706 (GRCm39) |
E254D |
probably benign |
Het |
Cr2 |
T |
A |
1: 194,842,988 (GRCm39) |
H218L |
probably benign |
Het |
Csnka2ip |
T |
C |
16: 64,298,672 (GRCm39) |
K564R |
unknown |
Het |
Cyp2r1 |
A |
G |
7: 114,151,207 (GRCm39) |
F371L |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,469,812 (GRCm39) |
F392I |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,557,968 (GRCm39) |
T2149A |
probably benign |
Het |
Emx2 |
A |
G |
19: 59,448,036 (GRCm39) |
Y130C |
possibly damaging |
Het |
Erbin |
T |
C |
13: 103,971,384 (GRCm39) |
D744G |
probably benign |
Het |
Gcm2 |
T |
C |
13: 41,258,924 (GRCm39) |
N140S |
probably damaging |
Het |
Gnai2 |
C |
T |
9: 107,512,380 (GRCm39) |
A13T |
probably benign |
Het |
Gpr150 |
T |
C |
13: 76,204,636 (GRCm39) |
Y103C |
possibly damaging |
Het |
Gstp2 |
A |
G |
19: 4,091,901 (GRCm39) |
|
probably null |
Het |
Kdr |
A |
G |
5: 76,117,752 (GRCm39) |
I667T |
possibly damaging |
Het |
Lpin1 |
A |
G |
12: 16,612,400 (GRCm39) |
I534T |
|
Het |
Lrrtm3 |
T |
A |
10: 63,925,749 (GRCm39) |
|
probably benign |
Het |
Meiob |
C |
T |
17: 25,042,574 (GRCm39) |
T134I |
probably benign |
Het |
Msh2 |
G |
T |
17: 88,024,933 (GRCm39) |
A604S |
probably damaging |
Het |
Mterf3 |
T |
C |
13: 67,062,780 (GRCm39) |
T319A |
possibly damaging |
Het |
Myo3a |
C |
T |
2: 22,490,181 (GRCm39) |
T1514I |
probably damaging |
Het |
Ndfip2 |
T |
C |
14: 105,496,400 (GRCm39) |
M98T |
possibly damaging |
Het |
Nfatc2ip |
A |
G |
7: 125,989,739 (GRCm39) |
V215A |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,959,065 (GRCm39) |
T46S |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,732 (GRCm39) |
M118K |
probably damaging |
Het |
Pabpc6 |
C |
T |
17: 9,888,114 (GRCm39) |
E146K |
probably damaging |
Het |
Pemt |
A |
G |
11: 59,937,174 (GRCm39) |
F30L |
possibly damaging |
Het |
Plch1 |
A |
G |
3: 63,605,591 (GRCm39) |
S1438P |
possibly damaging |
Het |
Pnma2 |
T |
A |
14: 67,154,009 (GRCm39) |
H144Q |
probably benign |
Het |
Ppp1r14b |
A |
G |
19: 6,952,825 (GRCm39) |
N70S |
possibly damaging |
Het |
Psmd1 |
T |
A |
1: 86,054,236 (GRCm39) |
M725K |
possibly damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,858,489 (GRCm39) |
K533E |
probably benign |
Het |
Rb1cc1 |
C |
A |
1: 6,315,126 (GRCm39) |
H426Q |
probably damaging |
Het |
Rimbp3 |
A |
G |
16: 17,027,641 (GRCm39) |
E355G |
possibly damaging |
Het |
Rxfp1 |
A |
G |
3: 79,578,182 (GRCm39) |
F170L |
probably damaging |
Het |
Sema3f |
G |
T |
9: 107,562,562 (GRCm39) |
A473E |
probably damaging |
Het |
Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
Siglec1 |
G |
T |
2: 130,915,941 (GRCm39) |
P1307Q |
probably damaging |
Het |
Srd5a2 |
A |
C |
17: 74,331,535 (GRCm39) |
I154S |
possibly damaging |
Het |
Sugp1 |
A |
G |
8: 70,523,068 (GRCm39) |
E537G |
probably damaging |
Het |
Tbc1d30 |
T |
C |
10: 121,142,074 (GRCm39) |
E91G |
possibly damaging |
Het |
Tiparp |
A |
T |
3: 65,454,973 (GRCm39) |
N373Y |
probably benign |
Het |
Tmem217 |
A |
C |
17: 29,745,232 (GRCm39) |
I166S |
probably damaging |
Het |
Top1 |
T |
A |
2: 160,563,406 (GRCm39) |
Y746N |
probably damaging |
Het |
Tubb2a |
C |
T |
13: 34,260,607 (GRCm39) |
D31N |
probably benign |
Het |
Utrn |
T |
G |
10: 12,585,736 (GRCm39) |
I1014L |
probably benign |
Het |
Vtn |
T |
C |
11: 78,392,625 (GRCm39) |
I401T |
probably benign |
Het |
Wwc2 |
G |
T |
8: 48,321,595 (GRCm39) |
H506Q |
unknown |
Het |
Xab2 |
G |
T |
8: 3,668,182 (GRCm39) |
T132N |
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 |
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 |
RF051:Pde3b
|
UTSW |
7 |
114,134,010 (GRCm39) |
small insertion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGTCTCCATAATCCAGACACC -3'
(R):5'- AGTTCCGGACCATGATCTACATC -3'
Sequencing Primer
(F):5'- CTGTGTATTCTTTGGGCCTTTAC -3'
(R):5'- GTAGGAAGAAGTACCTGCTTT -3'
|
Posted On |
2022-11-14 |