Incidental Mutation 'R3114:Pde4d'
| ID |
263942 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110084792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 519
(M519K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074103]
[ENSMUST00000079975]
[ENSMUST00000117420]
[ENSMUST00000117879]
[ENSMUST00000119507]
[ENSMUST00000119672]
[ENSMUST00000120664]
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074103
AA Change: M394K
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: M394K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
HDc
|
329 |
504 |
1.12e-2 |
SMART |
|
low complexity region
|
652 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079975
AA Change: M414K
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: M414K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
349 |
524 |
1.12e-2 |
SMART |
|
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117420
AA Change: M233K
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: M233K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
168 |
343 |
1.12e-2 |
SMART |
|
low complexity region
|
491 |
506 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117879
AA Change: M220K
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: M220K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
155 |
330 |
1.12e-2 |
SMART |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119507
AA Change: M419K
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: M419K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
354 |
529 |
1.12e-2 |
SMART |
|
low complexity region
|
677 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119672
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120664
AA Change: M300K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: M300K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
235 |
410 |
1.12e-2 |
SMART |
|
low complexity region
|
558 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120671
AA Change: M519K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: M519K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
84 |
N/A |
INTRINSIC |
|
HDc
|
454 |
629 |
1.12e-2 |
SMART |
|
low complexity region
|
777 |
792 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122041
AA Change: M463K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: M463K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
398 |
573 |
1.12e-2 |
SMART |
|
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135275
AA Change: M416K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: M416K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
HDc
|
351 |
526 |
1.12e-2 |
SMART |
|
low complexity region
|
674 |
689 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177907
AA Change: M463K
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: M463K
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
398 |
573 |
1.12e-2 |
SMART |
|
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153234
AA Change: M469K
|
| SMART Domains |
Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: M469K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1E9K|A
|
22 |
59 |
9e-18 |
PDB |
|
low complexity region
|
69 |
85 |
N/A |
INTRINSIC |
|
HDc
|
405 |
580 |
1.12e-2 |
SMART |
|
low complexity region
|
728 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155459
|
| SMART Domains |
Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I
|
121 |
189 |
2.6e-23 |
PFAM |
|
| Meta Mutation Damage Score |
0.8842 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed growth, female infertility associated with impaired ovulation, and reduced postnatal viability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,695,459 (GRCm39) |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Pde4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Pde4d
|
APN |
13 |
110,073,221 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL00792:Pde4d
|
APN |
13 |
110,071,929 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01014:Pde4d
|
APN |
13 |
110,086,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01660:Pde4d
|
APN |
13 |
110,074,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02233:Pde4d
|
APN |
13 |
109,877,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02405:Pde4d
|
APN |
13 |
108,996,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02544:Pde4d
|
APN |
13 |
109,877,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02885:Pde4d
|
APN |
13 |
110,084,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Pde4d
|
APN |
13 |
110,091,040 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03406:Pde4d
|
APN |
13 |
110,091,125 (GRCm39) |
unclassified |
probably benign |
|
|
Heliosphere
|
UTSW |
13 |
109,253,476 (GRCm39) |
missense |
probably benign |
|
|
Stubbs
|
UTSW |
13 |
109,909,256 (GRCm39) |
intron |
probably benign |
|
|
IGL03055:Pde4d
|
UTSW |
13 |
110,071,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Pde4d
|
UTSW |
13 |
110,091,104 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0020:Pde4d
|
UTSW |
13 |
110,091,104 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0054:Pde4d
|
UTSW |
13 |
109,876,955 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0054:Pde4d
|
UTSW |
13 |
109,876,955 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0357:Pde4d
|
UTSW |
13 |
110,087,802 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0482:Pde4d
|
UTSW |
13 |
110,073,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0689:Pde4d
|
UTSW |
13 |
109,877,078 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0884:Pde4d
|
UTSW |
13 |
110,087,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1169:Pde4d
|
UTSW |
13 |
110,087,462 (GRCm39) |
splice site |
probably null |
|
|
R1225:Pde4d
|
UTSW |
13 |
110,086,755 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1246:Pde4d
|
UTSW |
13 |
110,087,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Pde4d
|
UTSW |
13 |
110,086,921 (GRCm39) |
nonsense |
probably null |
|
|
R1351:Pde4d
|
UTSW |
13 |
110,087,809 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1371:Pde4d
|
UTSW |
13 |
109,253,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1418:Pde4d
|
UTSW |
13 |
110,086,921 (GRCm39) |
nonsense |
probably null |
|
|
R2197:Pde4d
|
UTSW |
13 |
110,084,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2440:Pde4d
|
UTSW |
13 |
110,063,731 (GRCm39) |
intron |
probably benign |
|
|
R3115:Pde4d
|
UTSW |
13 |
110,084,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Pde4d
|
UTSW |
13 |
110,087,866 (GRCm39) |
nonsense |
probably null |
|
|
R3742:Pde4d
|
UTSW |
13 |
109,877,013 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3797:Pde4d
|
UTSW |
13 |
109,769,431 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3983:Pde4d
|
UTSW |
13 |
109,876,940 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4618:Pde4d
|
UTSW |
13 |
110,070,411 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4768:Pde4d
|
UTSW |
13 |
110,070,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Pde4d
|
UTSW |
13 |
110,074,705 (GRCm39) |
intron |
probably benign |
|
|
R4824:Pde4d
|
UTSW |
13 |
109,253,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4942:Pde4d
|
UTSW |
13 |
108,996,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4984:Pde4d
|
UTSW |
13 |
109,876,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5180:Pde4d
|
UTSW |
13 |
109,877,007 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5267:Pde4d
|
UTSW |
13 |
109,397,343 (GRCm39) |
intron |
probably benign |
|
|
R5311:Pde4d
|
UTSW |
13 |
109,769,399 (GRCm39) |
missense |
probably benign |
|
|
R5311:Pde4d
|
UTSW |
13 |
109,769,398 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5376:Pde4d
|
UTSW |
13 |
109,909,178 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5551:Pde4d
|
UTSW |
13 |
110,084,930 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5753:Pde4d
|
UTSW |
13 |
109,909,256 (GRCm39) |
intron |
probably benign |
|
|
R5754:Pde4d
|
UTSW |
13 |
110,074,547 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5838:Pde4d
|
UTSW |
13 |
109,876,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5864:Pde4d
|
UTSW |
13 |
110,074,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6039:Pde4d
|
UTSW |
13 |
110,084,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Pde4d
|
UTSW |
13 |
110,084,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Pde4d
|
UTSW |
13 |
109,169,119 (GRCm39) |
nonsense |
probably null |
|
|
R6214:Pde4d
|
UTSW |
13 |
110,085,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Pde4d
|
UTSW |
13 |
110,085,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Pde4d
|
UTSW |
13 |
110,086,755 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6431:Pde4d
|
UTSW |
13 |
109,738,320 (GRCm39) |
splice site |
probably null |
|
|
R6501:Pde4d
|
UTSW |
13 |
109,253,476 (GRCm39) |
missense |
probably benign |
|
|
R6534:Pde4d
|
UTSW |
13 |
109,769,435 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6709:Pde4d
|
UTSW |
13 |
110,084,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Pde4d
|
UTSW |
13 |
109,769,432 (GRCm39) |
nonsense |
probably null |
|
|
R7164:Pde4d
|
UTSW |
13 |
109,169,222 (GRCm39) |
missense |
probably benign |
|
|
R7222:Pde4d
|
UTSW |
13 |
109,894,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Pde4d
|
UTSW |
13 |
109,769,322 (GRCm39) |
splice site |
probably null |
|
|
R7489:Pde4d
|
UTSW |
13 |
109,253,301 (GRCm39) |
missense |
unknown |
|
|
R7563:Pde4d
|
UTSW |
13 |
110,087,541 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7861:Pde4d
|
UTSW |
13 |
110,071,858 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8167:Pde4d
|
UTSW |
13 |
109,578,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8197:Pde4d
|
UTSW |
13 |
110,084,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8469:Pde4d
|
UTSW |
13 |
108,996,722 (GRCm39) |
missense |
probably benign |
|
|
R8715:Pde4d
|
UTSW |
13 |
110,071,876 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8926:Pde4d
|
UTSW |
13 |
110,074,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9054:Pde4d
|
UTSW |
13 |
110,071,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9406:Pde4d
|
UTSW |
13 |
109,877,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Pde4d
|
UTSW |
13 |
109,397,196 (GRCm39) |
missense |
|
|
|
R9526:Pde4d
|
UTSW |
13 |
110,071,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGTTCAGGGGCAACTGTG -3'
(R):5'- GAACCTGAGGTCATCTCTAAGAAC -3'
Sequencing Primer
(F):5'- TGTGCCCTAAATGGAAAGCATC -3'
(R):5'- GGAGCAACTTAAAGCCCA -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation