Incidental Mutation 'R7417:Pde4d'
ID |
605504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
9630011N22Rik, dunce, Dpde3 |
MMRRC Submission |
045495-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7417 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 109769322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
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 |
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (79/79) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,460,057 (GRCm39) |
T213I |
probably damaging |
Het |
Akr1b7 |
G |
A |
6: 34,394,300 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
T |
C |
12: 84,488,556 (GRCm39) |
Q110R |
probably benign |
Het |
Alg11 |
A |
T |
8: 22,552,044 (GRCm39) |
T63S |
probably benign |
Het |
Ankrd13b |
A |
G |
11: 77,367,020 (GRCm39) |
Y271H |
probably damaging |
Het |
Ano8 |
T |
A |
8: 71,933,477 (GRCm39) |
D605V |
unknown |
Het |
Best2 |
C |
T |
8: 85,736,295 (GRCm39) |
|
probably null |
Het |
Brca1 |
A |
G |
11: 101,415,807 (GRCm39) |
S776P |
probably damaging |
Het |
Capn7 |
T |
C |
14: 31,092,663 (GRCm39) |
Y737H |
probably damaging |
Het |
Cblc |
A |
T |
7: 19,522,899 (GRCm39) |
S333T |
probably benign |
Het |
Ccm2 |
T |
A |
11: 6,543,091 (GRCm39) |
M257K |
probably benign |
Het |
Cd320 |
T |
A |
17: 34,066,530 (GRCm39) |
C103* |
probably null |
Het |
Cd53 |
A |
G |
3: 106,676,235 (GRCm39) |
F44S |
probably benign |
Het |
Col9a2 |
G |
A |
4: 120,911,489 (GRCm39) |
R610H |
not run |
Het |
Cubn |
T |
C |
2: 13,431,778 (GRCm39) |
I1272V |
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,090,225 (GRCm39) |
|
probably null |
Het |
Dmrt2 |
A |
T |
19: 25,655,962 (GRCm39) |
R520S |
probably benign |
Het |
Dnai3 |
A |
T |
3: 145,798,835 (GRCm39) |
|
probably null |
Het |
Drg2 |
A |
G |
11: 60,345,506 (GRCm39) |
M1V |
probably null |
Het |
Ect2 |
A |
G |
3: 27,152,568 (GRCm39) |
S908P |
probably damaging |
Het |
Eipr1 |
A |
G |
12: 28,916,954 (GRCm39) |
T341A |
probably benign |
Het |
Ell3 |
A |
C |
2: 121,270,891 (GRCm39) |
I214R |
probably benign |
Het |
Emsy |
A |
T |
7: 98,264,693 (GRCm39) |
L568Q |
probably damaging |
Het |
Foxd4 |
T |
C |
19: 24,877,826 (GRCm39) |
T125A |
probably damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,043 (GRCm39) |
R9Q |
possibly damaging |
Het |
Fthl17b |
C |
T |
X: 8,829,047 (GRCm39) |
V8M |
possibly damaging |
Het |
Gcsam |
C |
A |
16: 45,440,240 (GRCm39) |
H94Q |
probably damaging |
Het |
Ginm1 |
T |
A |
10: 7,649,844 (GRCm39) |
I150F |
probably damaging |
Het |
H2bw2 |
G |
A |
X: 135,828,471 (GRCm39) |
R120K |
unknown |
Het |
Hk2 |
G |
A |
6: 82,720,326 (GRCm39) |
A205V |
probably damaging |
Het |
Il3ra |
A |
T |
14: 14,349,345 (GRCm38) |
H147L |
probably benign |
Het |
Map3k6 |
T |
A |
4: 132,975,707 (GRCm39) |
S732T |
probably benign |
Het |
Masp2 |
A |
G |
4: 148,690,178 (GRCm39) |
E229G |
probably benign |
Het |
Mccc2 |
A |
G |
13: 100,108,285 (GRCm39) |
|
probably null |
Het |
Mia3 |
A |
G |
1: 183,108,508 (GRCm39) |
V359A |
|
Het |
Mob1a |
A |
T |
6: 83,309,492 (GRCm39) |
T80S |
probably benign |
Het |
Msantd2 |
G |
A |
9: 37,434,590 (GRCm39) |
G478S |
probably damaging |
Het |
Mtf1 |
A |
G |
4: 124,718,974 (GRCm39) |
E329G |
probably null |
Het |
Myh9 |
T |
A |
15: 77,648,065 (GRCm39) |
K1804* |
probably null |
Het |
Ndst3 |
A |
G |
3: 123,465,313 (GRCm39) |
W220R |
probably damaging |
Het |
Nln |
A |
G |
13: 104,173,478 (GRCm39) |
L576P |
probably damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,483 (GRCm39) |
M300T |
probably benign |
Het |
Obscn |
G |
T |
11: 59,020,403 (GRCm39) |
D880E |
possibly damaging |
Het |
Oprd1 |
T |
C |
4: 131,844,763 (GRCm39) |
T82A |
probably damaging |
Het |
Or2n1d |
T |
A |
17: 38,646,183 (GRCm39) |
I45N |
probably damaging |
Het |
Or4f60 |
A |
C |
2: 111,902,445 (GRCm39) |
V161G |
probably benign |
Het |
Orc3 |
A |
G |
4: 34,595,136 (GRCm39) |
C278R |
probably damaging |
Het |
Pms1 |
T |
C |
1: 53,236,231 (GRCm39) |
E683G |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,905,869 (GRCm39) |
Y73N |
probably damaging |
Het |
Prkaa2 |
T |
C |
4: 104,932,740 (GRCm39) |
Q36R |
probably benign |
Het |
Psg22 |
A |
G |
7: 18,456,891 (GRCm39) |
E258G |
probably damaging |
Het |
Ptprf |
T |
C |
4: 118,069,369 (GRCm39) |
D1566G |
probably damaging |
Het |
Rfwd3 |
T |
A |
8: 111,999,701 (GRCm39) |
Y759F |
probably benign |
Het |
Ripor2 |
A |
G |
13: 24,880,533 (GRCm39) |
D411G |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,571,634 (GRCm39) |
|
probably null |
Het |
Sdr42e1 |
T |
C |
8: 118,389,490 (GRCm39) |
T384A |
probably benign |
Het |
Sec1 |
A |
T |
7: 45,334,149 (GRCm39) |
|
probably null |
Het |
Sec16a |
A |
T |
2: 26,311,409 (GRCm39) |
F616I |
|
Het |
Sipa1l2 |
T |
C |
8: 126,208,845 (GRCm39) |
D521G |
possibly damaging |
Het |
Smc1b |
T |
A |
15: 84,981,743 (GRCm39) |
Q759L |
probably benign |
Het |
Snph |
A |
T |
2: 151,442,263 (GRCm39) |
S57R |
probably damaging |
Het |
Sqor |
A |
T |
2: 122,629,450 (GRCm39) |
T103S |
probably benign |
Het |
Srbd1 |
A |
G |
17: 86,443,749 (GRCm39) |
V159A |
probably benign |
Het |
Srsf2 |
A |
T |
11: 116,743,727 (GRCm39) |
V10E |
probably damaging |
Het |
Swap70 |
T |
A |
7: 109,863,316 (GRCm39) |
|
probably null |
Het |
Synm |
A |
C |
7: 67,382,954 (GRCm39) |
*675G |
probably null |
Het |
Tek |
A |
G |
4: 94,699,582 (GRCm39) |
E320G |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,689,218 (GRCm39) |
D2123G |
probably damaging |
Het |
Tmod4 |
A |
G |
3: 95,033,174 (GRCm39) |
K56R |
possibly damaging |
Het |
Top3b |
G |
A |
16: 16,695,714 (GRCm39) |
|
probably benign |
Het |
Tssc4 |
G |
T |
7: 142,624,425 (GRCm39) |
E244D |
possibly damaging |
Het |
Twnk |
G |
A |
19: 44,999,003 (GRCm39) |
|
probably null |
Het |
Ube4a |
A |
C |
9: 44,868,011 (GRCm39) |
I45S |
probably benign |
Het |
Unc79 |
A |
T |
12: 103,055,017 (GRCm39) |
M954L |
possibly damaging |
Het |
Vcpip1 |
A |
T |
1: 9,816,540 (GRCm39) |
D614E |
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,035 (GRCm39) |
I312L |
probably benign |
Het |
Vmn1r77 |
A |
G |
7: 11,775,611 (GRCm39) |
Y129C |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,992,834 (GRCm39) |
L600P |
probably damaging |
Het |
Zfp266 |
T |
C |
9: 20,412,232 (GRCm39) |
T114A |
probably benign |
Het |
Zrsr2-ps1 |
T |
C |
11: 22,924,662 (GRCm39) |
|
probably null |
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 |
|
R7164:Pde4d
|
UTSW |
13 |
109,169,222 (GRCm39) |
missense |
probably benign |
|
R7222:Pde4d
|
UTSW |
13 |
109,894,113 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTGTCTAGGTGAAGCAAGCG -3'
(R):5'- TACTTGTAAGGGACCTACAGCAG -3'
Sequencing Primer
(F):5'- CTGTCGCAAAGGGCAAGTGTC -3'
(R):5'- GGACCTACAGCAGATAAAAAGGCC -3'
|
Posted On |
2019-12-09 |