Incidental Mutation 'R6214:Pde4d'
| ID |
503631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pde4d
|
| Ensembl Gene |
ENSMUSG00000021699 |
| Gene Name |
phosphodiesterase 4D, cAMP specific |
| Synonyms |
dunce, Dpde3, 9630011N22Rik |
| MMRRC Submission |
044347-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6214 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
108449948-109953461 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109949433 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 515
(S515L)
|
| 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: S446L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073742
Gene: ENSMUSG00000021699
AA Change: S446L
| 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: S466L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078891
Gene: ENSMUSG00000021699
AA Change: S466L
| 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: S285L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113610
Gene: ENSMUSG00000021699
AA Change: S285L
| 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: S272L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112774
Gene: ENSMUSG00000021699
AA Change: S272L
| 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: S471L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114089
Gene: ENSMUSG00000021699
AA Change: S471L
| 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: S352L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113024
Gene: ENSMUSG00000021699
AA Change: S352L
| 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: S571L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112991
Gene: ENSMUSG00000021699
AA Change: S571L
| 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: S515L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113488
Gene: ENSMUSG00000021699
AA Change: S515L
| 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: S468L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119583
Gene: ENSMUSG00000021699
AA Change: S468L
| 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: S521L
|
| SMART Domains |
Protein: ENSMUSP00000121592
Gene: ENSMUSG00000021699
AA Change: S521L
| 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: S515L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136485
Gene: ENSMUSG00000021699
AA Change: S515L
| 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 |
0.9520 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
C |
4: 136,241,425 |
D727A |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,396,857 |
K38E |
probably damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,251,407 |
Y909C |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,798,909 |
|
probably benign |
Het |
| Cd79b |
C |
A |
11: 106,312,441 |
|
probably null |
Het |
| Chia1 |
T |
C |
3: 106,122,445 |
F132L |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,129,634 |
E491G |
probably benign |
Het |
| Ctdnep1 |
T |
C |
11: 69,989,508 |
F206L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,662,152 |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 131,066,733 |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,613,336 |
I205T |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 138,058,003 |
H137Y |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,201,859 |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,069,365 |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,610,333 |
L83* |
probably null |
Het |
| Glra3 |
A |
G |
8: 55,991,256 |
|
probably null |
Het |
| Gm15448 |
A |
G |
7: 3,821,718 |
I554T |
probably damaging |
Het |
| Gm8890 |
C |
T |
5: 11,257,230 |
T25I |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,433,741 |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,823,909 |
A23P |
probably damaging |
Homo |
| Lrrc9 |
A |
T |
12: 72,459,853 |
E301D |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,471,136 |
I11T |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,779,791 |
M1K |
probably null |
Het |
| Nav3 |
A |
G |
10: 109,852,565 |
L617P |
probably damaging |
Het |
| Olfr918 |
A |
G |
9: 38,673,214 |
S90P |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,910,376 |
N156T |
possibly damaging |
Het |
| Prom2 |
A |
G |
2: 127,539,775 |
|
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,579,909 |
|
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,495,036 |
I1046V |
probably benign |
Het |
| Slc13a1 |
A |
T |
6: 24,090,796 |
Y541* |
probably null |
Het |
| Spen |
C |
T |
4: 141,479,112 |
E735K |
unknown |
Het |
| Tm6sf2 |
T |
C |
8: 70,073,074 |
V27A |
possibly damaging |
Het |
| Trim21 |
A |
G |
7: 102,559,439 |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,966,772 |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,880,208 |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,382,558 |
Q525R |
probably benign |
Het |
| Vsig10 |
G |
A |
5: 117,343,924 |
C393Y |
probably damaging |
Het |
| Ywhag |
A |
G |
5: 135,911,074 |
I222T |
probably 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 |
|
|
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 |
|
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 |
|
|
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'- CTCCCAGAAAACGTGGCATCAG -3'
(R):5'- TGAGATGAAGAAGCCCTGGC -3'
Sequencing Primer
(F):5'- TCAGTGAGGAAGAGAGACCCCC -3'
(R):5'- CCTGGCTCTTGTCTTCTTCAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation