Incidental Mutation 'IGL02985:Pde7a'
ID |
406695 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pde7a
|
Ensembl Gene |
ENSMUSG00000069094 |
Gene Name |
phosphodiesterase 7A |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.180)
|
Stock # |
IGL02985
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
19277272-19365486 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19365047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 40
(H40L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096800
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099195]
[ENSMUST00000156652]
|
AlphaFold |
P70453 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099195
AA Change: H40L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096800 Gene: ENSMUSG00000069094 AA Change: H40L
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: ENSMUST00000129060
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143120
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156652
AA Change: H40L
PolyPhen 2
Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119685 Gene: ENSMUSG00000069094 AA Change: H40L
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
37 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actc1 |
T |
C |
2: 113,878,641 (GRCm39) |
E318G |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,947,185 (GRCm39) |
V2968A |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,012,906 (GRCm39) |
L1862S |
probably damaging |
Het |
Cfap91 |
T |
A |
16: 38,118,634 (GRCm39) |
I722F |
probably damaging |
Het |
Csgalnact1 |
A |
G |
8: 68,913,695 (GRCm39) |
V170A |
probably benign |
Het |
Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
Dph1 |
A |
G |
11: 75,074,419 (GRCm39) |
V131A |
possibly damaging |
Het |
Galr1 |
A |
T |
18: 82,411,855 (GRCm39) |
M337K |
probably benign |
Het |
Gm14214 |
G |
T |
2: 154,611,374 (GRCm39) |
T160N |
probably benign |
Het |
Gpatch8 |
G |
T |
11: 102,372,336 (GRCm39) |
H401N |
unknown |
Het |
Higd1a |
A |
G |
9: 121,681,596 (GRCm39) |
F20L |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,547,668 (GRCm39) |
I2761K |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,235,114 (GRCm39) |
Y83N |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,414,901 (GRCm39) |
P255S |
probably benign |
Het |
Kpna2 |
T |
C |
11: 106,880,163 (GRCm39) |
Y495C |
probably benign |
Het |
Krt36 |
G |
T |
11: 99,994,005 (GRCm39) |
Q327K |
probably benign |
Het |
Lrrc34 |
T |
C |
3: 30,690,444 (GRCm39) |
M153V |
probably benign |
Het |
Map9 |
A |
T |
3: 82,267,209 (GRCm39) |
R30* |
probably null |
Het |
Mcf2l |
A |
G |
8: 13,013,239 (GRCm39) |
Y48C |
probably damaging |
Het |
Mfsd13b |
T |
A |
7: 120,599,395 (GRCm39) |
I397K |
probably damaging |
Het |
Mpp7 |
C |
A |
18: 7,461,637 (GRCm39) |
|
probably null |
Het |
Mrgprx2 |
C |
T |
7: 48,132,245 (GRCm39) |
C191Y |
probably damaging |
Het |
Or4c58 |
A |
T |
2: 89,674,684 (GRCm39) |
I211N |
possibly damaging |
Het |
Pabpc4l |
A |
G |
3: 46,401,017 (GRCm39) |
V209A |
possibly damaging |
Het |
Phactr3 |
T |
C |
2: 177,817,250 (GRCm39) |
V22A |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,994,842 (GRCm39) |
E1104* |
probably null |
Het |
Ppp2cb |
A |
G |
8: 34,105,474 (GRCm39) |
|
probably benign |
Het |
Prl3c1 |
A |
T |
13: 27,383,370 (GRCm39) |
Y12F |
probably damaging |
Het |
Prune2 |
T |
C |
19: 16,993,723 (GRCm39) |
|
probably null |
Het |
Rfesd |
T |
C |
13: 76,156,331 (GRCm39) |
D25G |
probably damaging |
Het |
Rxfp1 |
C |
A |
3: 79,559,533 (GRCm39) |
M429I |
possibly damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
Ube2d2b |
T |
C |
5: 107,978,663 (GRCm39) |
S105P |
probably damaging |
Het |
Zfp518a |
C |
T |
19: 40,902,111 (GRCm39) |
T680I |
possibly 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 |
|
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 |
R2943:Pde7a
|
UTSW |
3 |
19,284,489 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2016-08-02 |