Incidental Mutation 'R7164:Pde4d'
| ID |
557819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
9630011N22Rik, dunce, Dpde3 |
| MMRRC Submission |
045331-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109169222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 88
(D88G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122041]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122041
AA Change: D88G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: D88G
| 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: ENSMUST00000177907
AA Change: D88G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: D88G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
G |
A |
13: 12,293,847 (GRCm39) |
H558Y |
probably damaging |
Het |
| Ajm1 |
T |
A |
2: 25,468,579 (GRCm39) |
H444L |
possibly damaging |
Het |
| Akap9 |
G |
C |
5: 4,110,364 (GRCm39) |
E3022D |
probably damaging |
Het |
| Anapc2 |
C |
T |
2: 25,175,011 (GRCm39) |
R710C |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Carmil3 |
A |
G |
14: 55,738,739 (GRCm39) |
E844G |
probably damaging |
Het |
| Cdk17 |
T |
G |
10: 93,068,343 (GRCm39) |
S367A |
probably benign |
Het |
| Cfap206 |
T |
A |
4: 34,719,656 (GRCm39) |
M253L |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,253,132 (GRCm39) |
K228Q |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,123,846 (GRCm39) |
I1503N |
possibly damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Czib |
C |
A |
4: 107,752,087 (GRCm39) |
D155E |
not run |
Het |
| Degs1 |
A |
G |
1: 182,106,690 (GRCm39) |
S226P |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,221,638 (GRCm39) |
W976R |
probably damaging |
Het |
| Fbxl4 |
C |
T |
4: 22,386,218 (GRCm39) |
P275L |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,915,944 (GRCm38) |
|
probably null |
Het |
| Gnptab |
T |
A |
10: 88,269,932 (GRCm39) |
Y878* |
probably null |
Het |
| Gpr89 |
A |
T |
3: 96,778,714 (GRCm39) |
M453K |
probably benign |
Het |
| Igsf5 |
A |
T |
16: 96,174,048 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Inpp5e |
T |
A |
2: 26,297,995 (GRCm39) |
D202V |
possibly damaging |
Het |
| Itga3 |
C |
T |
11: 94,943,305 (GRCm39) |
V931M |
possibly damaging |
Het |
| Kcnab3 |
T |
C |
11: 69,222,184 (GRCm39) |
|
probably null |
Het |
| Klk4 |
T |
C |
7: 43,531,122 (GRCm39) |
I17T |
possibly damaging |
Het |
| Lrrc73 |
T |
C |
17: 46,567,169 (GRCm39) |
L206P |
probably damaging |
Het |
| Manba |
A |
T |
3: 135,248,149 (GRCm39) |
N346I |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,013,132 (GRCm39) |
Y76H |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Masp2 |
A |
G |
4: 148,694,572 (GRCm39) |
|
probably null |
Het |
| Mast1 |
T |
C |
8: 85,661,933 (GRCm39) |
D63G |
possibly damaging |
Het |
| Mtf2 |
T |
A |
5: 108,241,235 (GRCm39) |
S254T |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,619,585 (GRCm39) |
T1379S |
unknown |
Het |
| Myo5a |
A |
G |
9: 75,087,435 (GRCm39) |
E1097G |
probably benign |
Het |
| Nat1 |
T |
C |
8: 67,944,329 (GRCm39) |
V238A |
possibly damaging |
Het |
| Nhlrc2 |
A |
G |
19: 56,580,931 (GRCm39) |
D493G |
probably damaging |
Het |
| Or10ak9 |
C |
T |
4: 118,726,922 (GRCm39) |
P315S |
probably benign |
Het |
| Or1j21 |
T |
C |
2: 36,683,709 (GRCm39) |
S154P |
probably benign |
Het |
| Or5ae2 |
A |
G |
7: 84,506,251 (GRCm39) |
I227V |
possibly damaging |
Het |
| Or5b108 |
A |
T |
19: 13,168,270 (GRCm39) |
M80L |
probably benign |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,932,176 (GRCm39) |
K52E |
probably damaging |
Het |
| Or8g51 |
A |
G |
9: 38,609,515 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcsk5 |
C |
T |
19: 17,429,349 (GRCm39) |
C1543Y |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 176,041,187 (GRCm39) |
M1K |
probably null |
Het |
| Prmt6 |
A |
G |
3: 110,157,680 (GRCm39) |
M203T |
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,986,510 (GRCm39) |
V995D |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,084,862 (GRCm39) |
E199G |
possibly damaging |
Het |
| Pth1r |
A |
G |
9: 110,552,815 (GRCm39) |
I439T |
possibly damaging |
Het |
| Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
| Slc44a1 |
T |
C |
4: 53,528,711 (GRCm39) |
S154P |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,487,855 (GRCm39) |
Y192* |
probably null |
Het |
| Spag16 |
A |
G |
1: 70,764,025 (GRCm39) |
H615R |
possibly damaging |
Het |
| Spata31h1 |
G |
A |
10: 82,122,063 (GRCm39) |
T3649I |
probably damaging |
Het |
| Tas2r114 |
G |
A |
6: 131,666,728 (GRCm39) |
A100V |
possibly damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,544 (GRCm39) |
S103P |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,668,847 (GRCm39) |
S383P |
probably damaging |
Het |
| Vmn2r113 |
A |
G |
17: 23,167,137 (GRCm39) |
R505G |
probably benign |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,708,232 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
T |
C |
17: 46,716,865 (GRCm39) |
V999A |
probably damaging |
Het |
| Zfp324 |
A |
T |
7: 12,702,810 (GRCm39) |
H58L |
probably damaging |
Het |
| Zfp707 |
A |
G |
15: 75,846,967 (GRCm39) |
E339G |
possibly 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 |
|
|
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 |
|
|
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 |
|
|
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'- GAATGGAGCCCTATCTCGTACG -3'
(R):5'- GCAGTCACCCAGTACTTTTCAAC -3'
Sequencing Primer
(F):5'- CCCTATCTCGTACGGCGAC -3'
(R):5'- CAACACTCTCTTGGAAAATGGTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation