Incidental Mutation 'R8197:Pde4d'
ID |
635509 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
9630011N22Rik, dunce, Dpde3 |
MMRRC Submission |
067620-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8197 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
108790711-110092503 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 110084870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 489
(I489N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074103]
[ENSMUST00000079975]
[ENSMUST00000117420]
[ENSMUST00000117879]
[ENSMUST00000119507]
[ENSMUST00000119672]
[ENSMUST00000120664]
[ENSMUST00000122041]
[ENSMUST00000120671]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
AlphaFold |
Q01063 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074103
AA Change: I420N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073742 Gene: ENSMUSG00000021699 AA Change: I420N
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: I440N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078891 Gene: ENSMUSG00000021699 AA Change: I440N
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: I259N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113610 Gene: ENSMUSG00000021699 AA Change: I259N
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: I246N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112774 Gene: ENSMUSG00000021699 AA Change: I246N
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: I445N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114089 Gene: ENSMUSG00000021699 AA Change: I445N
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: I326N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113024 Gene: ENSMUSG00000021699 AA Change: I326N
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: ENSMUST00000122041
AA Change: I489N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113488 Gene: ENSMUSG00000021699 AA Change: I489N
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: ENSMUST00000120671
AA Change: I545N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112991 Gene: ENSMUSG00000021699 AA Change: I545N
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: ENSMUST00000135275
AA Change: I442N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119583 Gene: ENSMUSG00000021699 AA Change: I442N
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 |
|
SMART Domains |
Protein: ENSMUSP00000121592 Gene: ENSMUSG00000021699 AA Change: I495N
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177907
AA Change: I489N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136485 Gene: ENSMUSG00000021699 AA Change: I489N
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 |
0.9711 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
Validation Efficiency |
96% (46/48) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,780,628 (GRCm39) |
D836E |
probably benign |
Het |
Abca6 |
A |
C |
11: 110,102,641 (GRCm39) |
L861R |
probably damaging |
Het |
Adamts18 |
G |
T |
8: 114,481,227 (GRCm39) |
A560E |
probably damaging |
Het |
Adra2b |
A |
T |
2: 127,206,578 (GRCm39) |
Q365L |
possibly damaging |
Het |
Anxa3 |
A |
G |
5: 96,982,651 (GRCm39) |
T250A |
probably benign |
Het |
B4galt5 |
T |
A |
2: 167,144,023 (GRCm39) |
N309I |
probably benign |
Het |
Bub1 |
G |
T |
2: 127,643,177 (GRCm39) |
R1056S |
probably damaging |
Het |
Ccdc185 |
G |
T |
1: 182,576,324 (GRCm39) |
P122T |
possibly damaging |
Het |
Cdk5rap3 |
A |
G |
11: 96,806,975 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
T |
A |
8: 113,296,857 (GRCm39) |
Y31N |
probably benign |
Het |
Crygc |
T |
C |
1: 65,112,365 (GRCm39) |
M70V |
probably benign |
Het |
Dnah14 |
A |
G |
1: 181,517,666 (GRCm39) |
E2000G |
possibly damaging |
Het |
Dpp4 |
T |
C |
2: 62,203,171 (GRCm39) |
N266S |
probably benign |
Het |
Edrf1 |
T |
A |
7: 133,249,088 (GRCm39) |
D304E |
probably benign |
Het |
Fabp9 |
T |
G |
3: 10,259,887 (GRCm39) |
K42T |
probably benign |
Het |
Fhl4 |
T |
A |
10: 84,934,101 (GRCm39) |
I227F |
probably damaging |
Het |
Gm13941 |
T |
C |
2: 110,926,921 (GRCm39) |
|
probably null |
Het |
Gsdmd |
T |
C |
15: 75,736,186 (GRCm39) |
I105T |
possibly damaging |
Het |
Gys1 |
A |
G |
7: 45,092,348 (GRCm39) |
D317G |
possibly damaging |
Het |
Hrh4 |
A |
G |
18: 13,154,986 (GRCm39) |
Y175C |
probably damaging |
Het |
Igfals |
A |
G |
17: 25,099,278 (GRCm39) |
N123S |
probably benign |
Het |
Igkv5-37 |
A |
G |
6: 69,940,841 (GRCm39) |
V2A |
possibly damaging |
Het |
Iqsec3 |
A |
G |
6: 121,389,971 (GRCm39) |
L500P |
unknown |
Het |
Itgae |
G |
A |
11: 73,011,210 (GRCm39) |
R660Q |
probably benign |
Het |
Kcnip2 |
T |
C |
19: 45,782,730 (GRCm39) |
I204V |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,493,447 (GRCm39) |
E471G |
probably damaging |
Het |
Lrrtm3 |
T |
A |
10: 63,924,295 (GRCm39) |
T291S |
possibly damaging |
Het |
Mast1 |
T |
A |
8: 85,639,450 (GRCm39) |
H1293L |
possibly damaging |
Het |
Mrnip |
A |
G |
11: 50,090,607 (GRCm39) |
E257G |
probably benign |
Het |
Myo9b |
T |
C |
8: 71,743,607 (GRCm39) |
Y223H |
probably damaging |
Het |
Nab1 |
G |
A |
1: 52,529,127 (GRCm39) |
R257* |
probably null |
Het |
Ncapd3 |
C |
A |
9: 26,997,329 (GRCm39) |
L1217I |
probably damaging |
Het |
Or5h18 |
T |
A |
16: 58,847,448 (GRCm39) |
D274V |
probably benign |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pdyn |
C |
T |
2: 129,530,277 (GRCm39) |
G131R |
probably benign |
Het |
Qrich2 |
CACCTGCTTGCAACACACCAGGCTGAACTGGACCT |
CACCT |
11: 116,347,861 (GRCm39) |
|
probably benign |
Het |
Rps6ka1 |
T |
C |
4: 133,592,673 (GRCm39) |
K276E |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Scube2 |
T |
A |
7: 109,407,684 (GRCm39) |
N752I |
possibly damaging |
Het |
Scyl2 |
T |
C |
10: 89,498,228 (GRCm39) |
I194V |
probably benign |
Het |
Sec31b |
T |
G |
19: 44,512,955 (GRCm39) |
R511S |
probably benign |
Het |
Serpinb6d |
T |
C |
13: 33,851,588 (GRCm39) |
F115S |
probably damaging |
Het |
Skint6 |
T |
G |
4: 112,752,040 (GRCm39) |
|
probably null |
Het |
Supt16 |
G |
A |
14: 52,411,542 (GRCm39) |
P614S |
possibly damaging |
Het |
Tmem114 |
T |
C |
16: 8,227,516 (GRCm39) |
I182M |
probably damaging |
Het |
Vmn1r125 |
G |
A |
7: 21,006,851 (GRCm39) |
V250I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
Zfp959 |
A |
T |
17: 56,204,677 (GRCm39) |
D238V |
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 |
|
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 |
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 |
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'- GGAAAGCATCCTAGAACTTGGG -3'
(R):5'- ACTCCATTACAAAAGGAGCCTG -3'
Sequencing Primer
(F):5'- CATGTATGTTGACCCAGATCAGC -3'
(R):5'- CGAACCTGAGGTCATCTCTA -3'
|
Posted On |
2020-07-13 |