Incidental Mutation 'R4524:Pde7a'
| ID |
334354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde7a
|
| Ensembl Gene |
ENSMUSG00000069094 |
| Gene Name |
phosphodiesterase 7A |
| Synonyms |
|
| MMRRC Submission |
041766-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
R4524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
19277272-19365486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19285140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 349
(H349L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091314]
[ENSMUST00000099195]
[ENSMUST00000149081]
[ENSMUST00000156652]
|
| AlphaFold |
P70453 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091314
AA Change: H323L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000088863
Gene: ENSMUSG00000069094
AA Change: H323L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
HDc
|
183 |
350 |
2.91e-10 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099195
AA Change: H349L
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096800
Gene: ENSMUSG00000069094
AA Change: H349L
| 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 |
|
| Meta Mutation Damage Score |
0.4283 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (58/60) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,342,076 (GRCm39) |
S962G |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,738,609 (GRCm39) |
V328A |
probably benign |
Het |
| Ang4 |
G |
T |
14: 52,001,605 (GRCm39) |
C114* |
probably null |
Het |
| Arid1b |
A |
T |
17: 5,147,895 (GRCm39) |
Q599L |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,948,772 (GRCm39) |
T3067I |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,906,571 (GRCm39) |
S555P |
probably benign |
Het |
| Brox |
A |
T |
1: 183,074,045 (GRCm39) |
L68I |
possibly damaging |
Het |
| C130026L21Rik |
A |
G |
5: 111,733,738 (GRCm39) |
|
noncoding transcript |
Het |
| Cavin2 |
T |
C |
1: 51,340,229 (GRCm39) |
V302A |
probably benign |
Het |
| Cbln3 |
A |
T |
14: 56,121,522 (GRCm39) |
C41* |
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,102,043 (GRCm39) |
I66N |
probably damaging |
Het |
| Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
T |
A |
2: 166,869,640 (GRCm39) |
C358* |
probably null |
Het |
| Ehbp1 |
A |
T |
11: 22,101,843 (GRCm39) |
D228E |
probably damaging |
Het |
| Emc7 |
T |
C |
2: 112,285,609 (GRCm39) |
V66A |
probably damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Furin |
T |
C |
7: 80,048,382 (GRCm39) |
|
probably null |
Het |
| Gm3739 |
T |
A |
14: 18,505,267 (GRCm39) |
K86* |
probably null |
Het |
| Gmpr |
A |
T |
13: 45,683,215 (GRCm39) |
E162V |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,024,330 (GRCm39) |
V541D |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,067,096 (GRCm39) |
G184W |
probably damaging |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nrg4 |
T |
G |
9: 55,135,186 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Or14a257 |
G |
T |
7: 86,138,034 (GRCm39) |
H242N |
probably damaging |
Het |
| Or8b12 |
T |
C |
9: 37,658,162 (GRCm39) |
L244S |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,711,781 (GRCm39) |
D913V |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Ralgapb |
C |
A |
2: 158,279,226 (GRCm39) |
T104N |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,569,258 (GRCm39) |
I59V |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,799,970 (GRCm39) |
H534Y |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shcbp1 |
T |
C |
8: 4,789,193 (GRCm39) |
Y542C |
probably damaging |
Het |
| Shisa8 |
C |
G |
15: 82,096,163 (GRCm39) |
V151L |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,975,059 (GRCm39) |
T190I |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,974 (GRCm39) |
S382T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,526,926 (GRCm39) |
D1061G |
probably damaging |
Het |
| Tex44 |
T |
G |
1: 86,355,298 (GRCm39) |
D402E |
probably benign |
Het |
| Thbs1 |
G |
T |
2: 117,953,460 (GRCm39) |
R959L |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,564,986 (GRCm39) |
D1408G |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,131 (GRCm39) |
T2352I |
probably benign |
Het |
| Tspyl5 |
T |
A |
15: 33,687,738 (GRCm39) |
E69V |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Washc1 |
C |
T |
17: 66,426,087 (GRCm39) |
Q462* |
probably null |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
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 |
|
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 |
|
|
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'- GCCTCTCCTGTATGTTCTGGAAG -3'
(R):5'- AAGCAACTTTCAGAGTATCTTAGGG -3'
Sequencing Primer
(F):5'- CTCTCCTGTATGTTCTGGAAGGGAAC -3'
(R):5'- CAGAGTATCTTAGGGTTTTGTAAAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation