Incidental Mutation 'R7563:Pde4d'
ID |
585277 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pde4d
|
Ensembl Gene |
ENSMUSG00000021699 |
Gene Name |
phosphodiesterase 4D, cAMP specific |
Synonyms |
9630011N22Rik, dunce, Dpde3 |
MMRRC Submission |
045655-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7563 (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 C
at 110087541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 636
(I636T)
|
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 benign
Transcript: ENSMUST00000074103
AA Change: I567T
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000073742 Gene: ENSMUSG00000021699 AA Change: I567T
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: I587T
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000078891 Gene: ENSMUSG00000021699 AA Change: I587T
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: I406T
PolyPhen 2
Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113610 Gene: ENSMUSG00000021699 AA Change: I406T
Domain | Start | End | E-Value | Type |
HDc
|
168 |
343 |
1.12e-2 |
SMART |
low complexity region
|
491 |
506 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117879
AA Change: I393T
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000112774 Gene: ENSMUSG00000021699 AA Change: I393T
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: I592T
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000114089 Gene: ENSMUSG00000021699 AA Change: I592T
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 benign
Transcript: ENSMUST00000120664
AA Change: I473T
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113024 Gene: ENSMUSG00000021699 AA Change: I473T
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: ENSMUST00000122041
AA Change: I636T
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113488 Gene: ENSMUSG00000021699 AA Change: I636T
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: I692T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112991 Gene: ENSMUSG00000021699 AA Change: I692T
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: ENSMUST00000135275
AA Change: I589T
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119583 Gene: ENSMUSG00000021699 AA Change: I589T
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: I642T
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 benign
Transcript: ENSMUST00000177907
AA Change: I636T
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000136485 Gene: ENSMUSG00000021699 AA Change: I636T
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 |
0.6990 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
A |
G |
4: 144,184,464 (GRCm39) |
I98T |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,988,529 (GRCm39) |
I3271T |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,086,304 (GRCm39) |
V70I |
probably benign |
Het |
Ap1g2 |
A |
G |
14: 55,337,206 (GRCm39) |
S710P |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,347,162 (GRCm39) |
K1064E |
probably benign |
Het |
Capn11 |
T |
A |
17: 45,944,891 (GRCm39) |
I459F |
probably damaging |
Het |
Ccnc |
A |
G |
4: 21,732,220 (GRCm39) |
I48V |
probably damaging |
Het |
Ces1d |
T |
A |
8: 93,904,667 (GRCm39) |
I358F |
probably benign |
Het |
Clgn |
A |
T |
8: 84,147,185 (GRCm39) |
N379I |
probably damaging |
Het |
Cym |
T |
C |
3: 107,121,548 (GRCm39) |
Y248C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,666,100 (GRCm39) |
D352G |
possibly damaging |
Het |
Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
Fam219a |
A |
C |
4: 41,569,208 (GRCm39) |
V10G |
probably benign |
Het |
Fbxl5 |
C |
T |
5: 43,978,891 (GRCm39) |
V20I |
probably benign |
Het |
Fbxl9 |
A |
G |
8: 106,042,388 (GRCm39) |
C147R |
probably benign |
Het |
Fscb |
T |
C |
12: 64,520,059 (GRCm39) |
E469G |
possibly damaging |
Het |
Glt8d2 |
A |
T |
10: 82,496,659 (GRCm39) |
|
probably null |
Het |
Grep1 |
A |
T |
17: 23,936,302 (GRCm39) |
F8L |
probably benign |
Het |
Helt |
T |
C |
8: 46,746,630 (GRCm39) |
|
probably benign |
Het |
Igkv8-27 |
G |
T |
6: 70,148,887 (GRCm39) |
T89K |
probably benign |
Het |
Ipo5 |
T |
A |
14: 121,183,567 (GRCm39) |
H1048Q |
probably benign |
Het |
Kalrn |
T |
C |
16: 34,212,464 (GRCm39) |
D28G |
probably damaging |
Het |
Kcnh4 |
G |
A |
11: 100,632,680 (GRCm39) |
P936S |
probably benign |
Het |
Klrd1 |
A |
G |
6: 129,570,701 (GRCm39) |
I37M |
possibly damaging |
Het |
Kmt2e |
T |
C |
5: 23,705,271 (GRCm39) |
V1267A |
probably damaging |
Het |
Marchf1 |
A |
T |
8: 66,920,965 (GRCm39) |
Q214L |
probably damaging |
Het |
Mlip |
G |
T |
9: 77,020,279 (GRCm39) |
H52N |
probably damaging |
Het |
Oas1e |
T |
C |
5: 120,927,021 (GRCm39) |
R229G |
probably benign |
Het |
Ogfr |
T |
A |
2: 180,234,300 (GRCm39) |
|
probably null |
Het |
Or4g16 |
T |
C |
2: 111,137,134 (GRCm39) |
F195L |
probably benign |
Het |
Or5m10 |
T |
A |
2: 85,717,482 (GRCm39) |
Y113N |
probably damaging |
Het |
Pex5l |
C |
T |
3: 33,008,625 (GRCm39) |
V426I |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,252,006 (GRCm39) |
K384E |
possibly damaging |
Het |
Pramel22 |
A |
T |
4: 143,380,675 (GRCm39) |
Y449* |
probably null |
Het |
Prl6a1 |
T |
G |
13: 27,498,221 (GRCm39) |
|
probably null |
Het |
Prss23 |
A |
T |
7: 89,159,038 (GRCm39) |
W344R |
probably damaging |
Het |
Ptar1 |
T |
A |
19: 23,697,680 (GRCm39) |
D397E |
probably benign |
Het |
Qrsl1 |
G |
A |
10: 43,752,513 (GRCm39) |
R437C |
probably damaging |
Het |
Rab6a |
G |
T |
7: 100,257,404 (GRCm39) |
|
probably benign |
Het |
Samd14 |
C |
A |
11: 94,912,239 (GRCm39) |
S205R |
probably benign |
Het |
Sel1l3 |
T |
C |
5: 53,343,326 (GRCm39) |
Y322C |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,940,480 (GRCm39) |
L669I |
probably benign |
Het |
Ssc4d |
A |
G |
5: 135,991,887 (GRCm39) |
L419P |
probably damaging |
Het |
Tbc1d2b |
A |
T |
9: 90,101,063 (GRCm39) |
Y642* |
probably null |
Het |
Tbc1d2b |
A |
C |
9: 90,108,301 (GRCm39) |
F417V |
probably benign |
Het |
Top2a |
T |
C |
11: 98,907,005 (GRCm39) |
D212G |
probably damaging |
Het |
Trim39 |
A |
T |
17: 36,571,807 (GRCm39) |
V317E |
probably damaging |
Het |
Uncx |
G |
A |
5: 139,530,261 (GRCm39) |
R113H |
probably damaging |
Het |
Usp4 |
A |
G |
9: 108,256,543 (GRCm39) |
S655G |
probably benign |
Het |
Vmn2r114 |
C |
T |
17: 23,510,000 (GRCm39) |
V827I |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,491,200 (GRCm39) |
N349I |
probably benign |
Het |
Vmn2r3 |
A |
G |
3: 64,182,770 (GRCm39) |
W310R |
possibly damaging |
Het |
Xirp2 |
T |
C |
2: 67,340,245 (GRCm39) |
W829R |
probably damaging |
Het |
Zfp574 |
C |
A |
7: 24,780,777 (GRCm39) |
H600N |
possibly 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 |
|
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'- CTGACCAATTTACCAAACTCGGG -3'
(R):5'- GAGTCACTGCAGCTAGTGTC -3'
Sequencing Primer
(F):5'- GGTTAGTAATATTCTATGCAGGCTCC -3'
(R):5'- GCAGCTAGTGTCTTCCTCCAC -3'
|
Posted On |
2019-10-17 |