Incidental Mutation 'IGL03055:Pde4d'
| ID |
453397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
dunce, Dpde3, 9630011N22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03055 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108449948-109953461 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109935345 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 128
(K128R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074103]
[ENSMUST00000079975]
[ENSMUST00000117420]
[ENSMUST00000117879]
[ENSMUST00000119507]
[ENSMUST00000119672]
[ENSMUST00000120664]
[ENSMUST00000120671]
[ENSMUST00000122041]
[ENSMUST00000135275]
[ENSMUST00000177907]
|
| AlphaFold |
Q01063 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074103
AA Change: K222R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: K222R
| 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
AA Change: K242R
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: K242R
| 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: ENSMUST00000117420
AA Change: K61R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: K61R
| 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: K48R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: K48R
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
155 |
330 |
1.12e-2 |
SMART |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119507
AA Change: K247R
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: K247R
| 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: K128R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: K128R
| Domain | Start | End | E-Value | Type |
|---|
|
HDc
|
235 |
410 |
1.12e-2 |
SMART |
|
low complexity region
|
558 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120671
AA Change: K347R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: K347R
| 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
AA Change: K291R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: K291R
| 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: K244R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: K244R
| 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: ENSMUST00000151429
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153234
AA Change: K297R
|
| SMART Domains |
Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: K297R
| 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 |
unknown
Transcript: ENSMUST00000155459
AA Change: K11R
|
| SMART Domains |
Protein: ENSMUSP00000114945
Gene: ENSMUSG00000021699
AA Change: K11R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDEase_I
|
121 |
189 |
2.6e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177907
AA Change: K291R
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: K291R
| 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 |
0.0686 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900041M22Rik |
T |
A |
11: 117,612,246 |
|
noncoding transcript |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 53,690,895 |
|
noncoding transcript |
Het |
| A430005L14Rik |
T |
A |
4: 153,960,635 |
S40R |
probably benign |
Het |
| Aire |
A |
G |
10: 78,043,069 |
L48P |
probably damaging |
Het |
| Alkbh8 |
T |
C |
9: 3,345,882 |
|
probably benign |
Het |
| Aqp7 |
A |
G |
4: 41,045,326 |
M18T |
probably benign |
Het |
| Cchcr1 |
T |
A |
17: 35,526,619 |
M406K |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 37,095,097 |
D102E |
probably benign |
Het |
| Cilp |
TGGG |
TGG |
9: 65,280,130 |
|
probably null |
Het |
| Clec16a |
T |
A |
16: 10,741,781 |
S973T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,237,086 |
|
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,095,501 |
Y1471H |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,872,740 |
Y3489C |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,137,062 |
E464G |
probably damaging |
Het |
| Enpp2 |
C |
A |
15: 54,866,085 |
|
probably null |
Het |
| Erich2 |
G |
T |
2: 70,509,185 |
C28F |
possibly damaging |
Het |
| Fam135b |
A |
T |
15: 71,622,034 |
H15Q |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,630,681 |
|
probably benign |
Het |
| Gfral |
T |
A |
9: 76,208,549 |
T48S |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,650,520 |
E293G |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,458,448 |
N3691K |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 |
|
probably null |
Het |
| Nefm |
T |
C |
14: 68,122,909 |
T371A |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,308 |
C3F |
probably benign |
Het |
| Nol4l |
G |
C |
2: 153,436,270 |
|
silent |
Het |
| Nprl3 |
C |
A |
11: 32,248,230 |
|
probably benign |
Het |
| Olfr656 |
A |
T |
7: 104,618,206 |
I176F |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,611,773 |
|
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,533,613 |
L1329P |
probably damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,749,489 |
|
probably benign |
Het |
| Rassf5 |
T |
C |
1: 131,244,995 |
I46V |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,053,159 |
T481I |
probably benign |
Het |
| Samd4b |
A |
G |
7: 28,405,546 |
L524P |
possibly damaging |
Het |
| Speer4c |
A |
C |
5: 15,714,216 |
|
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,207,076 |
|
silent |
Het |
| Ssh2 |
C |
T |
11: 77,408,195 |
Q123* |
probably null |
Het |
| St18 |
G |
T |
1: 6,802,735 |
L231F |
probably damaging |
Het |
| Stk11 |
A |
C |
10: 80,128,086 |
D96A |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,108,615 |
T1918A |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,165,542 |
|
probably null |
Het |
| Tlr1 |
C |
A |
5: 64,926,596 |
V213F |
probably benign |
Het |
| Trappc10 |
C |
T |
10: 78,214,686 |
R307Q |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,212,371 |
|
probably null |
Het |
| Wnt6 |
G |
A |
1: 74,782,854 |
R198H |
probably damaging |
Het |
| Yipf2 |
A |
T |
9: 21,589,723 |
V98E |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,661,171 |
T248A |
possibly damaging |
Het |
| Zc3hav1 |
C |
T |
6: 38,316,316 |
|
probably null |
Het |
| Zfp697 |
T |
G |
3: 98,425,494 |
C79G |
possibly damaging |
Het |
|
| Other mutations in Pde4d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Pde4d
|
APN |
13 |
109936687 |
missense |
possibly damaging |
0.69 |
|
IGL00792:Pde4d
|
APN |
13 |
109935395 |
missense |
possibly damaging |
0.85 |
|
IGL01014:Pde4d
|
APN |
13 |
109949502 |
missense |
probably damaging |
1.00 |
|
IGL01660:Pde4d
|
APN |
13 |
109938072 |
missense |
probably damaging |
1.00 |
|
IGL02233:Pde4d
|
APN |
13 |
109740550 |
missense |
probably damaging |
1.00 |
|
IGL02405:Pde4d
|
APN |
13 |
108860209 |
critical splice donor site |
probably null |
|
|
IGL02544:Pde4d
|
APN |
13 |
109740523 |
missense |
probably damaging |
1.00 |
|
IGL02885:Pde4d
|
APN |
13 |
109948261 |
missense |
probably damaging |
1.00 |
|
IGL03286:Pde4d
|
APN |
13 |
109954506 |
unclassified |
probably benign |
|
|
IGL03406:Pde4d
|
APN |
13 |
109954591 |
unclassified |
probably benign |
|
|
Heliosphere
|
UTSW |
13 |
109116942 |
missense |
probably benign |
|
|
Stubbs
|
UTSW |
13 |
109772722 |
intron |
probably benign |
|
|
R0020:Pde4d
|
UTSW |
13 |
109954570 |
missense |
possibly damaging |
0.66 |
|
R0020:Pde4d
|
UTSW |
13 |
109954570 |
missense |
possibly damaging |
0.66 |
|
R0054:Pde4d
|
UTSW |
13 |
109740421 |
missense |
probably benign |
0.23 |
|
R0054:Pde4d
|
UTSW |
13 |
109740421 |
missense |
probably benign |
0.23 |
|
R0357:Pde4d
|
UTSW |
13 |
109951268 |
missense |
possibly damaging |
0.46 |
|
R0482:Pde4d
|
UTSW |
13 |
109936710 |
missense |
probably benign |
0.00 |
|
R0689:Pde4d
|
UTSW |
13 |
109740544 |
missense |
possibly damaging |
0.78 |
|
R0884:Pde4d
|
UTSW |
13 |
109950940 |
missense |
probably damaging |
0.99 |
|
R1169:Pde4d
|
UTSW |
13 |
109950928 |
splice site |
probably null |
|
|
R1225:Pde4d
|
UTSW |
13 |
109950221 |
missense |
probably benign |
0.04 |
|
R1246:Pde4d
|
UTSW |
13 |
109950973 |
missense |
probably damaging |
1.00 |
|
R1344:Pde4d
|
UTSW |
13 |
109950387 |
nonsense |
probably null |
|
|
R1351:Pde4d
|
UTSW |
13 |
109951275 |
missense |
possibly damaging |
0.46 |
|
R1371:Pde4d
|
UTSW |
13 |
109117061 |
missense |
probably benign |
0.00 |
|
R1418:Pde4d
|
UTSW |
13 |
109950387 |
nonsense |
probably null |
|
|
R2197:Pde4d
|
UTSW |
13 |
109948390 |
missense |
probably damaging |
1.00 |
|
R2440:Pde4d
|
UTSW |
13 |
109927197 |
intron |
probably benign |
|
|
R3114:Pde4d
|
UTSW |
13 |
109948258 |
missense |
probably damaging |
1.00 |
|
R3115:Pde4d
|
UTSW |
13 |
109948258 |
missense |
probably damaging |
1.00 |
|
R3722:Pde4d
|
UTSW |
13 |
109951332 |
nonsense |
probably null |
|
|
R3742:Pde4d
|
UTSW |
13 |
109740479 |
missense |
probably benign |
0.42 |
|
R3797:Pde4d
|
UTSW |
13 |
109632897 |
missense |
probably benign |
0.29 |
|
R3983:Pde4d
|
UTSW |
13 |
109740406 |
missense |
probably benign |
0.23 |
|
R4618:Pde4d
|
UTSW |
13 |
109933877 |
missense |
probably benign |
0.13 |
|
R4768:Pde4d
|
UTSW |
13 |
109933874 |
missense |
probably damaging |
1.00 |
|
R4795:Pde4d
|
UTSW |
13 |
109938171 |
intron |
probably benign |
|
|
R4824:Pde4d
|
UTSW |
13 |
109116866 |
missense |
probably benign |
0.00 |
|
R4942:Pde4d
|
UTSW |
13 |
108860199 |
missense |
probably benign |
0.00 |
|
R4984:Pde4d
|
UTSW |
13 |
109740464 |
missense |
probably damaging |
1.00 |
|
R5180:Pde4d
|
UTSW |
13 |
109740473 |
missense |
probably benign |
0.13 |
|
R5267:Pde4d
|
UTSW |
13 |
109260809 |
intron |
probably benign |
|
|
R5311:Pde4d
|
UTSW |
13 |
109632864 |
missense |
probably benign |
0.02 |
|
R5311:Pde4d
|
UTSW |
13 |
109632865 |
missense |
probably benign |
|
|
R5376:Pde4d
|
UTSW |
13 |
109772644 |
missense |
probably benign |
0.00 |
|
R5551:Pde4d
|
UTSW |
13 |
109948396 |
critical splice donor site |
probably null |
|
|
R5753:Pde4d
|
UTSW |
13 |
109772722 |
intron |
probably benign |
|
|
R5754:Pde4d
|
UTSW |
13 |
109938013 |
missense |
probably damaging |
0.98 |
|
R5838:Pde4d
|
UTSW |
13 |
109740442 |
missense |
probably damaging |
0.99 |
|
R5864:Pde4d
|
UTSW |
13 |
109938048 |
missense |
probably benign |
0.00 |
|
R6039:Pde4d
|
UTSW |
13 |
109948342 |
missense |
probably damaging |
1.00 |
|
R6039:Pde4d
|
UTSW |
13 |
109948342 |
missense |
probably damaging |
1.00 |
|
R6049:Pde4d
|
UTSW |
13 |
109032585 |
nonsense |
probably null |
|
|
R6214:Pde4d
|
UTSW |
13 |
109949433 |
missense |
probably damaging |
1.00 |
|
R6215:Pde4d
|
UTSW |
13 |
109949433 |
missense |
probably damaging |
1.00 |
|
R6273:Pde4d
|
UTSW |
13 |
109950221 |
missense |
possibly damaging |
0.94 |
|
R6431:Pde4d
|
UTSW |
13 |
109601786 |
splice site |
probably null |
|
|
R6501:Pde4d
|
UTSW |
13 |
109116942 |
missense |
probably benign |
|
|
R6534:Pde4d
|
UTSW |
13 |
109632901 |
missense |
probably benign |
0.05 |
|
R6709:Pde4d
|
UTSW |
13 |
109948279 |
missense |
probably damaging |
1.00 |
|
R6722:Pde4d
|
UTSW |
13 |
109632898 |
nonsense |
probably null |
|
|
R7164:Pde4d
|
UTSW |
13 |
109032688 |
missense |
probably benign |
|
|
R7222:Pde4d
|
UTSW |
13 |
109757579 |
missense |
probably damaging |
1.00 |
|
R7417:Pde4d
|
UTSW |
13 |
109632788 |
splice site |
probably null |
|
|
R7489:Pde4d
|
UTSW |
13 |
109116767 |
missense |
unknown |
|
|
R7563:Pde4d
|
UTSW |
13 |
109951007 |
missense |
probably benign |
0.37 |
|
R7861:Pde4d
|
UTSW |
13 |
109935324 |
missense |
probably damaging |
0.99 |
|
R8167:Pde4d
|
UTSW |
13 |
109442321 |
missense |
probably benign |
0.00 |
|
R8197:Pde4d
|
UTSW |
13 |
109948336 |
missense |
probably damaging |
1.00 |
|
R8469:Pde4d
|
UTSW |
13 |
108860188 |
missense |
probably benign |
|
|
R8715:Pde4d
|
UTSW |
13 |
109935342 |
missense |
probably benign |
0.29 |
|
R8926:Pde4d
|
UTSW |
13 |
109938091 |
missense |
probably benign |
0.00 |
|
R9054:Pde4d
|
UTSW |
13 |
109935390 |
missense |
probably damaging |
0.96 |
|
R9406:Pde4d
|
UTSW |
13 |
109740530 |
missense |
probably damaging |
0.99 |
|
R9516:Pde4d
|
UTSW |
13 |
109260662 |
missense |
|
|
|
R9526:Pde4d
|
UTSW |
13 |
109935381 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAGGCCTCTGGTAATTAAGTAG -3'
(R):5'- GGTGTACCACGTCATGATCC -3'
Sequencing Primer
(F):5'- GGTTTGCAGATACCAACTTGTAGTC -3'
(R):5'- GTACCACGTCATGATCCCTGAATC -3'
|
| Posted On |
2017-02-03 |
Incidental Mutation