Incidental Mutation 'IGL01349:Pde7a'
| ID |
75297 |
| 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 # |
IGL01349
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
19277272-19365486 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 19283843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091314]
[ENSMUST00000099195]
[ENSMUST00000149081]
[ENSMUST00000156652]
|
| AlphaFold |
P70453 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091314
|
| SMART Domains |
Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
HDc
|
183 |
350 |
2.91e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099195
|
| SMART Domains |
Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
| 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: ENSMUST00000149081
|
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,242,076 (GRCm39) |
S1313L |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,848,455 (GRCm39) |
H667R |
probably benign |
Het |
| Arap1 |
T |
C |
7: 101,036,359 (GRCm39) |
V382A |
possibly damaging |
Het |
| Arih2 |
T |
C |
9: 108,482,609 (GRCm39) |
Y444C |
probably damaging |
Het |
| Asxl3 |
T |
G |
18: 22,657,294 (GRCm39) |
V1768G |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,798,979 (GRCm39) |
M869K |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,570,665 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,881,126 (GRCm39) |
Y1167F |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,674,486 (GRCm39) |
K884* |
probably null |
Het |
| Chd1l |
T |
C |
3: 97,498,550 (GRCm39) |
Y283C |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,984,603 (GRCm39) |
V157A |
probably benign |
Het |
| Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,050,978 (GRCm39) |
F918L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,366,432 (GRCm39) |
N1890S |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,059 (GRCm39) |
|
probably benign |
Het |
| Eif4b |
C |
T |
15: 101,999,858 (GRCm39) |
T412I |
probably benign |
Het |
| Eloa |
A |
C |
4: 135,741,758 (GRCm39) |
Y29D |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,385,752 (GRCm39) |
F279S |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,207 (GRCm39) |
D316G |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,058,531 (GRCm39) |
S363G |
probably benign |
Het |
| Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
| Il17rd |
T |
A |
14: 26,817,901 (GRCm39) |
S197T |
probably damaging |
Het |
| Iqsec3 |
T |
C |
6: 121,450,083 (GRCm39) |
E147G |
possibly damaging |
Het |
| Itk |
T |
A |
11: 46,232,027 (GRCm39) |
T303S |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,914,743 (GRCm39) |
D716G |
possibly damaging |
Het |
| Lca5 |
A |
G |
9: 83,308,670 (GRCm39) |
S59P |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,764,302 (GRCm39) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,699,335 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,359,983 (GRCm39) |
T4427A |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,734,472 (GRCm39) |
D513G |
possibly damaging |
Het |
| Or2y1b |
T |
A |
11: 49,209,127 (GRCm39) |
Y251* |
probably null |
Het |
| Pira2 |
T |
C |
7: 3,847,138 (GRCm39) |
T135A |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,506,558 (GRCm39) |
Y397C |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,927,122 (GRCm39) |
M2187K |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,602,125 (GRCm39) |
I4586F |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,200,513 (GRCm39) |
M210K |
probably damaging |
Het |
| Slc22a19 |
C |
A |
19: 7,651,792 (GRCm39) |
V472F |
probably benign |
Het |
| Slc4a11 |
A |
G |
2: 130,528,863 (GRCm39) |
I462T |
probably benign |
Het |
| Spag11b |
A |
T |
8: 19,191,492 (GRCm39) |
H55L |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,652,309 (GRCm39) |
N125K |
possibly damaging |
Het |
| Ubr4 |
G |
T |
4: 139,208,039 (GRCm39) |
R4940L |
unknown |
Het |
| Vcan |
T |
A |
13: 89,852,062 (GRCm39) |
H966L |
probably damaging |
Het |
| Vmn1r204 |
T |
A |
13: 22,740,504 (GRCm39) |
I45K |
probably damaging |
Het |
| Vnn3 |
A |
T |
10: 23,727,814 (GRCm39) |
I75F |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,794,091 (GRCm39) |
M2256L |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,259,353 (GRCm39) |
L1642M |
probably damaging |
Het |
|
| Other mutations in Pde7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation