Incidental Mutation 'R0241:Pde7b'
| ID |
66195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde7b
|
| Ensembl Gene |
ENSMUSG00000019990 |
| Gene Name |
phosphodiesterase 7B |
| Synonyms |
|
| MMRRC Submission |
038479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0241 (G1)
|
| Quality Score |
128 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
20273750-20600824 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20311962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 239
(C239R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020165]
[ENSMUST00000164195]
[ENSMUST00000169016]
[ENSMUST00000169404]
[ENSMUST00000170265]
|
| AlphaFold |
Q9QXQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020165
AA Change: C187R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020165
Gene: ENSMUSG00000019990
AA Change: C187R
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
170 |
337 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164195
AA Change: C239R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126913
Gene: ENSMUSG00000019990
AA Change: C239R
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169016
|
| SMART Domains |
Protein: ENSMUSP00000130596
Gene: ENSMUSG00000019990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
103 |
116 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169404
AA Change: C239R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132378
Gene: ENSMUSG00000019990
AA Change: C239R
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170265
AA Change: C200R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000126324
Gene: ENSMUSG00000019990
AA Change: C200R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
|
HDc
|
183 |
350 |
9.04e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.9184 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.1%
- 10x: 89.8%
- 20x: 65.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
A |
6: 39,560,752 (GRCm39) |
V380E |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,470,549 (GRCm39) |
M1527K |
possibly damaging |
Het |
| Bicra |
A |
T |
7: 15,709,070 (GRCm39) |
M1188K |
probably damaging |
Het |
| Brd7 |
G |
A |
8: 89,072,478 (GRCm39) |
R331W |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,158,486 (GRCm39) |
T151A |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,952,667 (GRCm39) |
M175T |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,450,589 (GRCm39) |
D605G |
probably damaging |
Het |
| Chst12 |
G |
A |
5: 140,510,054 (GRCm39) |
R227H |
possibly damaging |
Het |
| Cobl |
A |
T |
11: 12,204,524 (GRCm39) |
V644E |
probably benign |
Het |
| Ddx31 |
A |
G |
2: 28,738,303 (GRCm39) |
T155A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,521,953 (GRCm39) |
Q4069R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,984,653 (GRCm39) |
I3117T |
probably damaging |
Het |
| Doc2b |
A |
G |
11: 75,663,387 (GRCm39) |
V355A |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,556,340 (GRCm39) |
S578T |
probably benign |
Het |
| Fcer2a |
A |
G |
8: 3,738,796 (GRCm39) |
|
probably null |
Het |
| Fmnl1 |
G |
A |
11: 103,072,996 (GRCm39) |
|
probably null |
Het |
| Git2 |
T |
C |
5: 114,871,290 (GRCm39) |
E208G |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,376,232 (GRCm39) |
F136L |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,124,655 (GRCm39) |
V555I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,276,494 (GRCm39) |
L1726S |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,027,114 (GRCm39) |
D615G |
probably damaging |
Het |
| Nfasc |
C |
A |
1: 132,564,731 (GRCm39) |
A70S |
probably benign |
Het |
| Or4d1 |
T |
A |
11: 87,804,860 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,889 (GRCm39) |
M131K |
possibly damaging |
Het |
| Or52n4 |
A |
G |
7: 104,294,450 (GRCm39) |
M41T |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,154 (GRCm39) |
K90R |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,368,027 (GRCm39) |
L2654Q |
probably damaging |
Het |
| Pgap1 |
T |
C |
1: 54,575,110 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
A |
8: 13,115,356 (GRCm39) |
M124K |
probably benign |
Het |
| Raet1d |
A |
G |
10: 22,247,328 (GRCm39) |
T135A |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,592,682 (GRCm39) |
N558S |
possibly damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Simc1 |
G |
T |
13: 54,698,338 (GRCm39) |
L1319F |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,438,429 (GRCm39) |
E1499G |
possibly damaging |
Het |
| Tas2r118 |
T |
C |
6: 23,969,338 (GRCm39) |
Y241C |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,430,636 (GRCm39) |
E344G |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tmbim7 |
A |
T |
5: 3,716,866 (GRCm39) |
Y66F |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,465,853 (GRCm39) |
L548P |
probably damaging |
Het |
| Wdr3 |
A |
G |
3: 100,052,973 (GRCm39) |
V593A |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,420,084 (GRCm39) |
T2858A |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 160,847,939 (GRCm39) |
V356E |
probably benign |
Het |
| Zfp36 |
C |
T |
7: 28,077,759 (GRCm39) |
V50I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
|
| Other mutations in Pde7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Pde7b
|
APN |
10 |
20,494,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01312:Pde7b
|
APN |
10 |
20,311,940 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01728:Pde7b
|
APN |
10 |
20,310,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01868:Pde7b
|
APN |
10 |
20,282,911 (GRCm39) |
nonsense |
probably null |
|
|
PIT4431001:Pde7b
|
UTSW |
10 |
20,276,291 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0241:Pde7b
|
UTSW |
10 |
20,311,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Pde7b
|
UTSW |
10 |
20,314,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Pde7b
|
UTSW |
10 |
20,294,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Pde7b
|
UTSW |
10 |
20,423,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Pde7b
|
UTSW |
10 |
20,355,432 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1547:Pde7b
|
UTSW |
10 |
20,310,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1571:Pde7b
|
UTSW |
10 |
20,288,836 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1611:Pde7b
|
UTSW |
10 |
20,310,236 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1722:Pde7b
|
UTSW |
10 |
20,311,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Pde7b
|
UTSW |
10 |
20,276,165 (GRCm39) |
makesense |
probably null |
|
|
R4622:Pde7b
|
UTSW |
10 |
20,294,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Pde7b
|
UTSW |
10 |
20,314,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4757:Pde7b
|
UTSW |
10 |
20,423,688 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4823:Pde7b
|
UTSW |
10 |
20,314,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4889:Pde7b
|
UTSW |
10 |
20,423,823 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4910:Pde7b
|
UTSW |
10 |
20,600,480 (GRCm39) |
unclassified |
probably benign |
|
|
R4923:Pde7b
|
UTSW |
10 |
20,288,873 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5349:Pde7b
|
UTSW |
10 |
20,494,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6258:Pde7b
|
UTSW |
10 |
20,316,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6645:Pde7b
|
UTSW |
10 |
20,486,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7000:Pde7b
|
UTSW |
10 |
20,319,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Pde7b
|
UTSW |
10 |
20,288,761 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7717:Pde7b
|
UTSW |
10 |
20,282,937 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7817:Pde7b
|
UTSW |
10 |
20,319,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Pde7b
|
UTSW |
10 |
20,423,639 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8837:Pde7b
|
UTSW |
10 |
20,314,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2013-08-19 |
Incidental Mutation