Incidental Mutation 'R0736:Pde7a'
| ID |
67282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde7a
|
| Ensembl Gene |
ENSMUSG00000069094 |
| Gene Name |
phosphodiesterase 7A |
| Synonyms |
|
| MMRRC Submission |
038917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R0736 (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 19285207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 327
(N327D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091314]
[ENSMUST00000099195]
[ENSMUST00000149081]
[ENSMUST00000156652]
|
| AlphaFold |
P70453 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091314
AA Change: N301D
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: N301D
| 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: N327D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: N327D
| 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 |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.6%
- 20x: 95.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Cacna2d3 |
A |
T |
14: 28,780,585 (GRCm39) |
H644Q |
probably benign |
Het |
| Calb1 |
G |
A |
4: 15,898,917 (GRCm39) |
V138M |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,765 (GRCm39) |
T402N |
probably benign |
Het |
| Chrnb3 |
G |
A |
8: 27,875,078 (GRCm39) |
A26T |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,811 (GRCm39) |
V1481I |
possibly damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,286,101 (GRCm39) |
V2695I |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,491,745 (GRCm39) |
S702C |
probably damaging |
Het |
| Heatr5a |
A |
C |
12: 51,943,344 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,500,432 (GRCm39) |
M461I |
probably benign |
Het |
| Mapk9 |
G |
A |
11: 49,774,081 (GRCm39) |
D413N |
possibly damaging |
Het |
| Morc4 |
G |
T |
X: 138,755,700 (GRCm39) |
Q239K |
probably benign |
Het |
| Myt1l |
T |
A |
12: 29,877,813 (GRCm39) |
V488D |
unknown |
Het |
| Neb |
A |
T |
2: 52,082,024 (GRCm39) |
Y24N |
probably damaging |
Het |
| Neo1 |
G |
A |
9: 58,824,364 (GRCm39) |
P688L |
possibly damaging |
Het |
| Nlrp9b |
A |
T |
7: 19,783,375 (GRCm39) |
D409V |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,051,659 (GRCm39) |
V1231A |
probably benign |
Het |
| Pdzd8 |
C |
A |
19: 59,333,365 (GRCm39) |
V219L |
probably damaging |
Het |
| Pgc |
T |
A |
17: 48,039,705 (GRCm39) |
M33K |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,320,758 (GRCm39) |
T154S |
possibly damaging |
Het |
| Polm |
G |
C |
11: 5,785,495 (GRCm39) |
S188C |
possibly damaging |
Het |
| Slfn1 |
A |
T |
11: 83,011,907 (GRCm39) |
T8S |
probably benign |
Het |
| St8sia6 |
C |
T |
2: 13,673,696 (GRCm39) |
V179M |
probably benign |
Het |
| Tns3 |
A |
T |
11: 8,469,474 (GRCm39) |
F274I |
possibly damaging |
Het |
| Tspan5 |
T |
C |
3: 138,574,159 (GRCm39) |
|
probably null |
Het |
| Utp14b |
A |
G |
1: 78,642,989 (GRCm39) |
K296E |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,797 (GRCm39) |
E165G |
possibly damaging |
Het |
| Zbtb17 |
C |
A |
4: 141,189,097 (GRCm39) |
H6N |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,975,432 (GRCm39) |
H286Y |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTGCTGTCTGTGGAACCTC -3'
(R):5'- GCATAAAGACGCTTCCTTTGGCATC -3'
Sequencing Primer
(F):5'- ACTTACCCTGAAAAAAAGATCTGC -3'
(R):5'- GCATTGTAGTATTTCCCTGAAAACTC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation