Incidental Mutation 'R5753:Pde4d'
| ID |
444908 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| MMRRC Submission |
043358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5753 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 109909256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136485
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074103]
[ENSMUST00000079975]
[ENSMUST00000119507]
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074103
|
| SMART Domains |
Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000134973
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135275
|
| SMART Domains |
Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
| 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: 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,120,374 (GRCm39) |
T377I |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,773,160 (GRCm39) |
D796G |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,914,595 (GRCm39) |
|
probably null |
Het |
| Ada |
A |
T |
2: 163,577,318 (GRCm39) |
S57T |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,483,858 (GRCm39) |
Y359C |
probably damaging |
Het |
| Adcy1 |
A |
T |
11: 7,080,300 (GRCm39) |
I348F |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,622,043 (GRCm39) |
E603G |
possibly damaging |
Het |
| Bcas3 |
A |
G |
11: 85,712,910 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,181,871 (GRCm39) |
V113L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,037 (GRCm39) |
T540A |
probably benign |
Het |
| Erp27 |
A |
G |
6: 136,896,875 (GRCm39) |
F109S |
probably damaging |
Het |
| F13a1 |
G |
A |
13: 37,082,082 (GRCm39) |
Q541* |
probably null |
Het |
| Fam124a |
T |
C |
14: 62,843,988 (GRCm39) |
S499P |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,428,416 (GRCm39) |
E486V |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,433,488 (GRCm39) |
S11P |
probably benign |
Het |
| Gm12508 |
C |
A |
4: 55,254,787 (GRCm39) |
|
noncoding transcript |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,439,837 (GRCm39) |
M131T |
probably damaging |
Het |
| H4c4 |
G |
A |
13: 23,765,587 (GRCm39) |
M1I |
probably null |
Het |
| Itpripl2 |
A |
G |
7: 118,090,232 (GRCm39) |
V109A |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,692,181 (GRCm39) |
E585G |
probably damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,331,404 (GRCm39) |
I593F |
possibly damaging |
Het |
| Lgr4 |
C |
T |
2: 109,832,857 (GRCm39) |
Q316* |
probably null |
Het |
| Mcf2l |
T |
C |
8: 13,049,993 (GRCm39) |
F305S |
probably damaging |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Or4c3 |
T |
C |
2: 89,851,847 (GRCm39) |
T188A |
possibly damaging |
Het |
| Or4k51 |
T |
A |
2: 111,585,146 (GRCm39) |
I184K |
possibly damaging |
Het |
| Or4q3 |
T |
A |
14: 50,583,045 (GRCm39) |
T285S |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,408 (GRCm39) |
L178P |
probably damaging |
Het |
| Or5d18 |
G |
A |
2: 87,864,920 (GRCm39) |
L188F |
probably damaging |
Het |
| Or5w18 |
A |
T |
2: 87,633,596 (GRCm39) |
M288L |
probably benign |
Het |
| Or7a40 |
A |
T |
16: 16,491,484 (GRCm39) |
Y120* |
probably null |
Het |
| Pcdh9 |
T |
A |
14: 94,125,597 (GRCm39) |
D191V |
probably damaging |
Het |
| Phkb |
C |
T |
8: 86,604,859 (GRCm39) |
A88V |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,620 (GRCm39) |
S4128P |
probably damaging |
Het |
| Plekha5 |
A |
T |
6: 140,482,730 (GRCm39) |
|
probably null |
Het |
| Rgs13 |
A |
C |
1: 144,016,478 (GRCm39) |
N88K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,912,448 (GRCm39) |
I104N |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,637,138 (GRCm39) |
|
probably benign |
Het |
| Saxo5 |
A |
T |
8: 3,534,112 (GRCm39) |
I350L |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,251,928 (GRCm39) |
|
probably null |
Het |
| Slc39a7 |
C |
T |
17: 34,249,150 (GRCm39) |
R246K |
probably damaging |
Het |
| Sort1 |
G |
C |
3: 108,253,090 (GRCm39) |
G510A |
probably damaging |
Het |
| Spag6l |
A |
G |
16: 16,584,831 (GRCm39) |
|
probably null |
Het |
| Sync |
T |
A |
4: 129,187,179 (GRCm39) |
Y70* |
probably null |
Het |
| Timm8a2 |
T |
C |
14: 122,272,289 (GRCm39) |
V64A |
probably benign |
Het |
| Tnfrsf11b |
C |
A |
15: 54,117,455 (GRCm39) |
V267L |
possibly damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,544 (GRCm39) |
V104A |
possibly damaging |
Het |
| Tusc3 |
T |
C |
8: 39,564,100 (GRCm39) |
S244P |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,279,787 (GRCm39) |
Y746N |
probably damaging |
Het |
| Vax1 |
G |
T |
19: 59,154,814 (GRCm39) |
H274Q |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,179 (GRCm39) |
V675A |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,670 (GRCm39) |
W298R |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,807,156 (GRCm39) |
N116S |
probably damaging |
Het |
| Zkscan2 |
A |
G |
7: 123,079,923 (GRCm39) |
V678A |
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 |
|
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 |
|
|
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'- CTTTCAATTAGAATGGCAGACGG -3'
(R):5'- TTCCCAAGGAATCGCAGAAGC -3'
Sequencing Primer
(F):5'- ACGGAAAACAACTTAGGTTACTG -3'
(R):5'- GGAGACAGCATTTCTCAACCTGTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation