Incidental Mutation 'R2943:Pde7a'
ID |
255817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde7a
|
Ensembl Gene |
ENSMUSG00000069094 |
Gene Name |
phosphodiesterase 7A |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
R2943 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
19277272-19365486 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19284489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 365
(N365D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091314]
[ENSMUST00000099195]
[ENSMUST00000156652]
[ENSMUST00000149081]
|
AlphaFold |
P70453 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091314
AA Change: N339D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088863 Gene: ENSMUSG00000069094 AA Change: N339D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
HDc
|
183 |
350 |
2.91e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099195
AA Change: N365D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096800 Gene: ENSMUSG00000069094 AA Change: N365D
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
HDc
|
209 |
376 |
2.91e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141455
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141621
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148590
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156652
|
SMART Domains |
Protein: ENSMUSP00000119685 Gene: ENSMUSG00000069094
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149081
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011] PHENOTYPE: Homozygous inactivation of this locus does not impair T cell function but affects the humoral immune response. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
Other mutations in Pde7a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01349:Pde7a
|
APN |
3 |
19,283,843 (GRCm39) |
unclassified |
probably benign |
|
IGL02644:Pde7a
|
APN |
3 |
19,311,031 (GRCm39) |
splice site |
probably benign |
|
IGL02968:Pde7a
|
APN |
3 |
19,297,285 (GRCm39) |
nonsense |
probably null |
|
IGL02985:Pde7a
|
APN |
3 |
19,365,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R0081:Pde7a
|
UTSW |
3 |
19,295,697 (GRCm39) |
splice site |
probably benign |
|
R0736:Pde7a
|
UTSW |
3 |
19,285,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Pde7a
|
UTSW |
3 |
19,284,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Pde7a
|
UTSW |
3 |
19,314,408 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1955:Pde7a
|
UTSW |
3 |
19,281,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R4072:Pde7a
|
UTSW |
3 |
19,311,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R4366:Pde7a
|
UTSW |
3 |
19,365,026 (GRCm39) |
critical splice donor site |
probably null |
|
R4524:Pde7a
|
UTSW |
3 |
19,285,140 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4666:Pde7a
|
UTSW |
3 |
19,314,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R4698:Pde7a
|
UTSW |
3 |
19,365,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R4850:Pde7a
|
UTSW |
3 |
19,297,281 (GRCm39) |
missense |
probably benign |
|
R4859:Pde7a
|
UTSW |
3 |
19,295,655 (GRCm39) |
intron |
probably benign |
|
R5283:Pde7a
|
UTSW |
3 |
19,314,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R5646:Pde7a
|
UTSW |
3 |
19,287,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R5702:Pde7a
|
UTSW |
3 |
19,295,371 (GRCm39) |
nonsense |
probably null |
|
R5756:Pde7a
|
UTSW |
3 |
19,319,009 (GRCm39) |
missense |
probably benign |
0.08 |
R5784:Pde7a
|
UTSW |
3 |
19,319,009 (GRCm39) |
missense |
probably benign |
0.08 |
R6301:Pde7a
|
UTSW |
3 |
19,297,327 (GRCm39) |
missense |
probably benign |
0.01 |
R7136:Pde7a
|
UTSW |
3 |
19,285,258 (GRCm39) |
missense |
probably benign |
0.36 |
R7291:Pde7a
|
UTSW |
3 |
19,281,838 (GRCm39) |
missense |
probably benign |
|
R7685:Pde7a
|
UTSW |
3 |
19,281,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R8032:Pde7a
|
UTSW |
3 |
19,314,429 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8884:Pde7a
|
UTSW |
3 |
19,281,858 (GRCm39) |
missense |
probably benign |
|
R9408:Pde7a
|
UTSW |
3 |
19,287,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9648:Pde7a
|
UTSW |
3 |
19,310,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R9716:Pde7a
|
UTSW |
3 |
19,285,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAATACCCAAGGTCACTCAG -3'
(R):5'- ACTTGGTTCTGGATCCCATGC -3'
Sequencing Primer
(F):5'- CAAATCACATTTCGTCTGTTACTGG -3'
(R):5'- CTGGATCCCATGCACACTG -3'
|
Posted On |
2014-12-29 |