Incidental Mutation 'R7717:Pde7b'
ID |
594982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde7b
|
Ensembl Gene |
ENSMUSG00000019990 |
Gene Name |
phosphodiesterase 7B |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7717 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
20273750-20600824 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20282937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 355
(F355L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020165
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020165]
[ENSMUST00000164195]
[ENSMUST00000169016]
[ENSMUST00000169404]
[ENSMUST00000170265]
|
AlphaFold |
Q9QXQ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020165
AA Change: F355L
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000020165 Gene: ENSMUSG00000019990 AA Change: F355L
Domain | Start | End | E-Value | Type |
HDc
|
170 |
337 |
9.04e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164195
AA Change: F407L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000126913 Gene: ENSMUSG00000019990 AA Change: F407L
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 benign
Transcript: ENSMUST00000169404
AA Change: F407L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000132378 Gene: ENSMUSG00000019990 AA Change: F407L
Domain | Start | End | E-Value | Type |
HDc
|
222 |
389 |
9.04e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170265
AA Change: F368L
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000126324 Gene: ENSMUSG00000019990 AA Change: F368L
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
38 |
N/A |
INTRINSIC |
HDc
|
183 |
350 |
9.04e-7 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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 |
Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
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 |
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 |
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 |
PCR Primer
(F):5'- GCCATTTAGATCTCTGGAAGGC -3'
(R):5'- TCAAAGGAGCCACTGTTAGGG -3'
Sequencing Primer
(F):5'- CATTTAGATCTCTGGAAGGCTGTGTG -3'
(R):5'- CCACTGTTAGGGATTGTTGATGCC -3'
|
Posted On |
2019-11-12 |