Incidental Mutation 'R3797:Pde4d'
ID |
473641 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
9630011N22Rik, dunce, Dpde3 |
MMRRC Submission |
040758-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3797 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109769431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 40
(S40P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079975]
[ENSMUST00000119507]
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
AlphaFold |
Q01063 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079975
|
SMART Domains |
Protein: ENSMUSP00000078891 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
349 |
524 |
1.12e-2 |
SMART |
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119507
|
SMART Domains |
Protein: ENSMUSP00000114089 Gene: ENSMUSG00000021699
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: ENSMUST00000120671
|
SMART Domains |
Protein: ENSMUSP00000112991 Gene: ENSMUSG00000021699
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 benign
Transcript: ENSMUST00000122041
|
SMART Domains |
Protein: ENSMUSP00000113488 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
398 |
573 |
1.12e-2 |
SMART |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135275
AA Change: S40P
PolyPhen 2
Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119583 Gene: ENSMUSG00000021699 AA Change: S40P
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 |
noncoding transcript
Transcript: ENSMUST00000138938
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153234
|
SMART Domains |
Protein: ENSMUSP00000121592 Gene: ENSMUSG00000021699
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: ENSMUST00000177907
|
SMART Domains |
Protein: ENSMUSP00000136485 Gene: ENSMUSG00000021699
Domain | Start | End | E-Value | Type |
HDc
|
398 |
573 |
1.12e-2 |
SMART |
low complexity region
|
721 |
736 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (39/39) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
B4galt1 |
G |
A |
4: 40,807,258 (GRCm39) |
T376I |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Capn5 |
C |
T |
7: 97,775,036 (GRCm39) |
G535R |
probably null |
Het |
Ccdc170 |
G |
A |
10: 4,510,920 (GRCm39) |
V660I |
possibly damaging |
Het |
Cdc73 |
A |
T |
1: 143,553,461 (GRCm39) |
D215E |
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clns1a |
G |
A |
7: 97,346,042 (GRCm39) |
G36R |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Dsp |
T |
A |
13: 38,361,260 (GRCm39) |
|
probably null |
Het |
Eif3d |
A |
G |
15: 77,852,769 (GRCm39) |
F4S |
probably damaging |
Het |
Ephb1 |
T |
C |
9: 101,848,466 (GRCm39) |
T611A |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
T |
C |
12: 119,127,204 (GRCm39) |
I683M |
possibly damaging |
Het |
Kcnip3 |
A |
G |
2: 127,323,934 (GRCm39) |
S32P |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,126,422 (GRCm39) |
T8A |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,669,625 (GRCm39) |
Q1455R |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,573,505 (GRCm39) |
E131G |
possibly damaging |
Het |
Or51v14 |
C |
T |
7: 103,260,654 (GRCm39) |
R302Q |
probably benign |
Het |
Pak5 |
T |
C |
2: 135,942,746 (GRCm39) |
I465V |
probably benign |
Het |
Pcdhgb8 |
T |
C |
18: 37,895,728 (GRCm39) |
I266T |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Polk |
A |
T |
13: 96,623,490 (GRCm39) |
|
probably benign |
Het |
Ppl |
T |
C |
16: 4,922,414 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
G |
17: 26,287,500 (GRCm39) |
C218R |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Skida1 |
C |
A |
2: 18,050,708 (GRCm39) |
E815* |
probably null |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Svil |
T |
A |
18: 5,060,534 (GRCm39) |
C802S |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Ugt3a1 |
G |
A |
15: 9,310,727 (GRCm39) |
W336* |
probably null |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,723,311 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,862,602 (GRCm39) |
I590N |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Xpnpep1 |
A |
T |
19: 52,994,773 (GRCm39) |
V285D |
probably benign |
Het |
Zfp934 |
T |
C |
13: 62,665,702 (GRCm39) |
K313R |
probably benign |
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 |
|
R3114:Pde4d
|
UTSW |
13 |
110,084,792 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Posted On |
2017-04-14 |