Incidental Mutation 'R1246:Pde4d'
| ID |
152161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
dunce, Dpde3, 9630011N22Rik |
| MMRRC Submission |
039313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
108449948-109953461 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 109950973 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 625
(W625R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136485
(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 damaging
Transcript: ENSMUST00000074103
AA Change: W556R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: W556R
| 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: W576R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: W576R
| 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: W395R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: W395R
| 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: W382R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: W382R
| 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: W581R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: W581R
| 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: W462R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: W462R
| 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: ENSMUST00000120671
AA Change: W681R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: W681R
| 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: ENSMUST00000122041
AA Change: W625R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: W625R
| 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: ENSMUST00000135275
AA Change: W578R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: W578R
| 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 |
unknown
Transcript: ENSMUST00000153234
AA Change: W631R
|
| SMART Domains |
Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: W631R
| 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: W625R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: W625R
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,030,295 |
D71G |
unknown |
Het |
| Gm11563 |
T |
C |
11: 99,658,848 |
T27A |
unknown |
Het |
| Gm7361 |
G |
T |
5: 26,261,227 |
E196* |
probably null |
Het |
| Ltbp1 |
T |
A |
17: 75,385,161 |
Y1273* |
probably null |
Het |
| Nol8 |
T |
A |
13: 49,676,769 |
W1110R |
probably damaging |
Het |
| Olfr547 |
T |
A |
7: 102,534,942 |
L65H |
probably damaging |
Het |
| Olfr661 |
C |
A |
7: 104,688,164 |
L50I |
possibly damaging |
Het |
| Olfr906 |
T |
C |
9: 38,488,790 |
S254P |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,341,820 |
Y631H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,659,800 |
Y165H |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,712,094 |
E114G |
possibly damaging |
Het |
| Tubb2b |
G |
A |
13: 34,128,147 |
T221I |
possibly damaging |
Het |
| Ythdf2 |
G |
A |
4: 132,204,871 |
T326M |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,874,909 |
I1421V |
probably benign |
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 |
|
|
IGL03055:Pde4d
|
UTSW |
13 |
109935345 |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CGTGATCTGTTGGCTCAAACTGACC -3'
(R):5'- AGAAAGAGTGGGACAGCCTTTATGC -3'
Sequencing Primer
(F):5'- GTTGGCTCAAACTGACCAATTTAC -3'
(R):5'- TGCACAGAGTCTTAGAGTCACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation